Dr Sara Mole

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Personal Profile

Name: Sara Mole Email: s.mole@ucl.ac.uk
Title: Dr Tel: 020 7679 7257
Department: Genetics, Evolution & Environment Fax: 020 7679 7805
Position: Reader in Molecular Cell Biology Address: MRC Laboratory for Molecular Cell Biology, , London, WC1E 6BT
Research Domain: Basic Life Sciences, Genetics (Frontier Disciplines), Neuroscience Web Page: Personal Web Page

Profile

Research Description

I am interested in disease caused by genetic changes and how study of these mutations and their effects can reveal important and complex aspects of cell biology that may otherwise be beyond current appreciation. I make use of model systems.

My main research interest is the molecular genetics and biology of the neuronal ceroid lipofuscinoses (NCL) or Batten disease, a group of inherited neurodegenerative diseases that affect lysosome homeostasis. This group of diseases are rare but understanding their biology may open new avenues for understanding more common neurodegenerative conditions as well as the basic biology of neurons and associated cells. When I began this work none of the genes had been identified so my initial research strategy was one of genetic linkage, eventually progressing to the molecular and cell biology of the genes I identified. Fourteen genes have now been identified. I work closely with others whose aim is to identify the remaining NCL disease genes by pooling resources and expertise. I curate the NCL Resource web site, which acts as a gateway for Batten disease and includes the Mutation Database which I maintain on behalf of the international NCL community (http://www.ucl.ac.uk/ncl). 

Within my own laboratory I have a particular interest in the biology of CLN3, a highly conserved gene, and of CLN6 and CLN8, vertebrate genes, whose functions remain elusive. We currently use mammalian systems and the model organism Schizosaccharomyces pombe and have studied their location, topology, trafficking signals, interacting partners and effect on cells of complete loss of function. The function of CLN3 is complex and more important than was expected, and the fission yeast model system has recently revealed novel aspects of its function including a role in polarisation of lipid domains and F-actin, and trafficking, as well as effects on vacuole homeostasis, that can be explained by a role upstream of the lysosome. These effects also translate into mammalian defects, revealed by RNAi. Significantly we discovered that an intragenic deletion of CLN3 shared by most patients with juvenile NCL does not completely abolish CLN3 function, which has important implications for future therapy development. We are using various screening strategies to identify genes and small molecules that restore defects associated with loss of CLN3 function. We are currently exploring the challenges of developing a therapy that targets the visual loss in NCL since this would significantly improve the quality of life of affected children, with the ultimate target being the brain.

Recently the potential of fission yeast as a model system for mammalian cell biology that is surprisingly under exploited has allowed me to develop a system to study membrane retrieval from the vacuole, a process that has escaped previous attempts to completely decipher and which may be similar to other intracellular membrane budding events. This approach has already shown the requirement for several genes that also underlie disease and promises to reveal numerous further genes involved in this process.

Keywords: Brain, Dementia, Epilepsy, Genetics, Macula, Modelling, Neurodegeneration, Neuron, Neuroscience, Vision

Conditions: Batten disease, Batten's disease, Neurodegenerative diseases

Methods: Bioinformatic analysis, Cell culture, Confocal microscopy, Electron Microscopy, Enzyme assays, Genetic manipulation (including knockout/knockin) , Genetic screens, Genomic analyses, Light microscopic techniques, Linkage, Mapping and positional cloning, Protein transport/localisation, Recombinant protein expression, Time-lapse imaging, Other


Research Activities

Batten disease

Education Description

UCL Collaborators

External Collaborators

Publications

    2014

    • Jacques TS, Andersen G, Hersheson J, Burke D, Clayton R, Mills P, Wood N, Gissen P, Clayton P, Fearnley J, Mole SE, Houlden H (2014). Distinctive muscle pathology in patients with mutations in the Cathepsin D gene.
    • Mole SE (2014). Development of new treatments for Batten disease.. Lancet Neurol, , - . doi:10.1016/S1474-4422(14)70151-6
    • Cortese A, Tucci A, Piccolo G, Galimberti CA, Fratta P, Marchioni E, Grampa G, Cereda C, Grieco G, Ricca I, Pittman A, Ciscato P, Napoli L, Lucchini V, Ripolone M, Violano R, Fagiolari G, Mole SE, Hardy J, Moglia A, Moggio M (2014). Novel CLN3 mutation causing autophagic vacuolar myopathy.. Neurology, , - . doi:10.1212/WNL.0000000000000490

    2013

    • Warrier V, Vieira M, Mole SE (2013). Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses.. Biochim Biophys Acta, 1832(11), 1827 - 1830. doi:10.1016/j.bbadis.2013.03.017
    • Guerreiro R, Bras JT, Vieira M, Warrier V, Agrawal S, Stewart H, Anderson G, Mole SE (2013). CLN6 disease caused by the same mutation originating in Pakistan has varying pathology.. Eur J Paediatr Neurol, , - . doi:10.1016/j.ejpn.2013.04.011
    • Mole SE, Williams RE, Cooper JD (2013). Special issue: Molecular basis of NCL.. Biochim Biophys Acta, , - . doi:10.1016/j.bbadis.2013.05.025
    • Smith KR, Dahl HH, Canafoglia L, Andermann E, Damiano J, Morbin M, Bruni AC, Giaccone G, Cossette P, Saftig P, Grötzinger J, Schwake M, Andermann F, Staropoli JF, Sims KB, Mole SE, Franceschetti S, Alexander NA, Cooper JD, Chapman HA, Carpenter S, Berkovic SF, Bahlo M (2013). Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.. Hum Mol Genet, 22(7), 1417 - 1423. doi:10.1093/hmg/dds558

    2012

    • Kousi M, Lehesjoki A-E, Mole SE (2012). Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. Human Mutation, 33(1), 42 - 63. doi:10.1002/humu.21624
    • Smith KR, Damiano J, Franceschetti S, Carpenter S, Canafoglia L, Morbin M, Rossi G, Pareyson D, Mole SE, Staropoli JF, Sims KB, Lewis J, Lin WL, Dickson DW, Dahl HH, Bahlo M, Berkovic SF (2012). Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.. Am J Hum Genet, 90(6), 1102 - 1107. doi:10.1016/j.ajhg.2012.04.021
    • Bras J, Verloes A, Schneider SA, Mole SE, Guerreiro RJ (2012). Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.. Hum Mol Genet, 21(12), 2646 - 2650. doi:10.1093/hmg/dds089
    • Williams RE, Mole SE (2012). New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses.. Neurology, 79(2), 183 - 191. doi:10.1212/WNL.0b013e31825f0547

    2011

    • Pezzini F, Gismondi F, Tessa A, Tonin P, Carrozzo R, Mole SE, Santorelli FM, Simonati A (2011). Involvement of the mitochondrial compartment in human NCL fibroblasts.. Biochem Biophys Res Commun, 416(1-2), 159 - 164. doi:10.1016/j.bbrc.2011.11.016
    • (2011). The Neuronal Ceroid Lipofuscinoses (Batten Disease).
    • Kohan R, Cismondi IA, Oller-Ramirez AM, Guelbert N, Anzolini TV, Alonso G, Mole SE, de Kremer DR, de Halac NI (2011). Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses.. Curr Pharm Biotechnol, 12(6), 867 - 883.
    • Mole SE, Codlin S, Griffin JL (2011). Reply to Comment on "Deletion of btn1, an orthologue of CLN3, increases glycolysis and perturbs amino acid metabolism in the fission yeast model of Batten disease".. Mol Biosyst, 7(4), 1349 - . doi:10.1039/c0mb00300j
    • Al-Kowari MK, Hassan S, El-Said MF, Ben-Omran T, Hedin L, Mole SE, Badii R (2011). Neuronal ceroid lipofuscinosis in Qatar: report of a novel mutation in ceroid-lipofuscinosis, neuronal 5 in the Arab population.. J Child Neurol, 26(5), 625 - 629. doi:10.1177/0883073810387298
    • Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, Bromhead CJ, Andermann E, Vears DF, Cossette P, Rajagopalan S, McDougall A, Sofia V, Farrell M, Aguglia U, Zini A, Meletti S, Morbin M, Mullen S, Andermann F, Mole SE, Bahlo M, Berkovic SF (2011). Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.. Am J Hum Genet, 88(5), 566 - 573. doi:10.1016/j.ajhg.2011.04.004
    • Nosková L, Stránecký V, Hartmannová H, Přistoupilová A, Barešová V, Ivánek R, Hůlková H, Jahnová H, van der Zee J, Staropoli JF, Sims KB, Tyynelä J, Van Broeckhoven C, Nijssen PC, Mole SE, Elleder M, Kmoch S (2011). Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.. Am J Hum Genet, 89(2), 241 - 252. doi:10.1016/j.ajhg.2011.07.003
    • Lebrun AH, Moll-Khosrawi P, Pohl S, Makrypidi G, Storch S, Kilian D, Streichert T, Otto B, Mole SE, Ullrich K, Cotman S, Kohlschütter A, Braulke T, Schulz A (2011). Analysis of potential biomarkers and modifier genes affecting the clinical course of CLN3 disease.. Mol Med, 17(11-12), 1253 - 1261. doi:10.2119/molmed.2010.00241
    • Noskova L, Stranecky V, Hartmannova H, Pristoupilova A, Baresova V, Ivanek R, Hulkova H, Jahnova H, van der Zee J, Staropoli JF, Sims KB, Tyynela J, Van Broeckhoven C, Nijssen PCG, Mole SE, Elleder M, Kmoch S (2011). Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis (vol 89, pg 241, 2011). AM J HUM GENET, 89(4), 589 - 589. doi:10.1016/j.ajhg.2011.09.003

    2010

    • Lebrun AH, Storch S, Pohl S, Streichert S, Mole SE, Ullrich K, Kohlschutter A, Braukle T, Schulz A (2010). Identification of Potential Biomarkers and Modifiers of CLN3-disease Progression. ANNALS OF NEUROLOGY, 68(4), S114 - S115.
    • Pears MR, Codlin S, Haines RL, White IJ, Mortishire-Smith RJ, Mole SE, Griffin JL (2010). Deletion of btn1, an orthologue of CLN3, increases glycolysis and perturbs amino acid metabolism in the fission yeast model of Batten disease.. Mol Biosyst, 6(6), 1093 - 1102. doi:10.1039/b915670d
    • Xin W, Mullen TE, Kiely R, Min J, Feng X, Cao Y, O'Malley L, Shen Y, Chu-Shore C, Mole SE, Goebel HH, Sims K (2010). CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL. NEUROLOGY, 74(7), 565 - 571.
    • Lebrun AH, Moll-Kosrawi P, Storch S, Pohl S, Kilian D, Streichert T, Mole SE, Ullrich K, Kohlschutter A, Braulke T, Schulz A (2010). IDENTIFICATION OF POTENTIAL BIOMARKERS AND MODIFIERS OF CLN3 DISEASE.
    • Mole SE, Williams RE (2010). Neuronal Ceroid-Lipofuscinoses.
    • Xin W, Mullen TE, Kiely R, Min J, Feng X, Cao Y, O Malley L, Shen Y, Chu-Shore C, Mole SE, Goebel HH, Sims KB (2010). CLN5 mutations are frequent in juvenile and late-onset non-Finnish NCL patients. Neurology, 74(7), 565 - 571.
    • Kurze AK, Galliciotti G, Heine C, Mole SE, Quitsch A, Braulke T (2010). Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6.. Hum Mutat, 31(2), E1163 - E1174. doi:10.1002/humu.21184

    2009

    • Cannelli N, Garavaglia B, Simonati A, Aiello C, Barzaghi C, Pezzini F, Cilio MR, Biancheri R, Morbin M, Bernardina BD, Granata T, Tessa A, Invernizzi F, Pessagno A, Boldrini R, Zibordi F, Grazian L, Claps D, Carrozzo R, Mole SE, Nardocci N, Santorelli FM (2009). Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6. BIOCHEM BIOPH RES CO, 379(4), 892 - 897. doi:10.1016/j.bbrc.2008.12.159
    • Lebrun AH, Storch S, Rüschendorf F, Schmiedt ML, Kyttälä A, Mole SE, Kitzmüller C, Saar K, Mewasingh LD, Boda V, Kohlschütter A, Ullrich K, Braulke T, Schulz A (2009). Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.. Hum Mutat, 30(5), E651 - E661. doi:10.1002/humu.21010
    • Aberg L, Lauronen L, Hamalainen J, Mole SE, Autti T (2009). A 30-year Follow-Up of a Neuronal Ceroid Lipofuscinosis Patient With Mutations in CLN3 and Protracted Disease Course. PEDIATR NEUROL, 40(2), 134 - 137. doi:10.1016/j.pediatrneurol.2008.10.012
    • Schulz A, Lebrun AH, Storch S, Franz R, Schmiedt ML, Kyttdlld A, Mole SE, Kitzmller C, Mewasingh LD, Boda V, Ullrich K, Kohlschtter A, Braulke T (2009). Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship. doi:10.1016/j.ymgme.2008.11.125
    • Aiello C, Terracciano A, Simonati A, Discepoli G, Cannelli N, Claps D, Crow YJ, Bianchi M, Kitzmuller C, Longo D, Tavoni A, Franzoni E, Tessa A, Veneselli E, Boldrini R, Filocamo M, Williams RE, Bertini ES, Biancheri R, Carrozzo R, Mole SE, Santorelli FM (2009). Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.. Hum Mutat, 30(3), E530 - E540. doi:10.1002/humu.20975
    • Codlin S, Mole SE (2009). S. pombe btn1, the orthologue of the Batten disease gene CLN3, is required for vacuole protein sorting of Cpy1p and Golgi exit of Vps10p. J CELL SCI, 122(8), 1163 - 1173. doi:10.1242/jcs.038323
    • Kousi M, Siintola E, Dvorakova L, Vlaskova H, Turnbull J, Topcu M, Yuksel D, Gokben S, Minassian BA, Elleder M, Mole SE, Lehesjoki AE (2009). Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. BRAIN, 132, 810 - 819. doi:10.1093/brain/awn366
    • Åberg L, Lauronen L, Hämäläinen J, Mole SE, Autti T (2009). A 30-year follow-up of a patient with mutations in CLN3 and protracted disease course. Pediatric Neurology, 40, 134 - 137.
    • Haines RL, Codlin S, Mole SE (2009). The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3. DIS MODEL MECH, 2(1-2), 84 - 92. doi:10.1242/dmm.000851
    • Lebrun AH, Storch S, Kyttalla A, Mole SE, Kohlschutter A, Ullrich K, Braulke T, Schulz A (2009). Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship. EUR J PEDIATR, 168(3), 378 - 378.
    • Mole SE, Williams RE (2009). Neuronal ceroid lipofuscinosis (CLN1-10). In Lang F (Ed.), Encyclopedia of Molecular Mechanisms of Disease (pp. - ). : Springer-Verlag.

    2008

    • Nugent T, Mole SE, Jones DT (2008). The transmembrane topology of Batten disease protein CLN3 determined by consensus computational prediction constrained by experimental data. FEBS Letters, 582, 1019 - 1024.
    • Kitzmüller C, Haines RL, Codlin S, Cutler DF, Mole SE (2008). A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis (JNCL). Human Molecular Genetics, 17, 303 - 312. doi:10.1093/hmg/ddm306
    • Codlin S, Haines RL, Burden JJE, Mole SE (2008). btn1 affects cytokinesis and cell-wall deposition by independent mechanisms, one of which is linked to dysregulation of vacuole pH. J CELL SCI, 121(17), 2860 - 2870. doi:10.1242/jcs.030122
    • Cismondi IA, Kohan R, Guelbert N, Anzolini TV, Ghio A, Mole SE, Xin W, Santorelli F, Dodelson de Kremer R, Oller de Ramirez AM, Noher de Halac I (2008). Morphologically targeted DNA screening of neuronal ceroid lipofuscinoses CLN5 and CLN6 in Argentina. Journal of Inherited Metabolic Disease, 31(Suppl 1), 129 - 129.
    • Codlin S, Haines RL, Mole SE (2008). btn1 Affects endocytosis, polarization of sterol-rich membrane domains and polarized growth in Schizosaccharomyces pombe. TRAFFIC, 9(6), 936 - 950. doi:10.1111/j.1600-0854.2008.00735.x
    • Codlin S, Haines RL, Burden JJE, Mole SE (2008). btn1 affects cytokinesis and cell wall deposition by independent mechanisms, one of which is linked to vacuole pH dysregulation. Journal of Cell Science, 121, 2860 - 2870.

    2007

    • Mole SE (2007). ITN London Tonight.
    • Steinfeld R, Mole SE, Niezen de Boer R, Gärtner J (2007). The CLN10 subtype of neuronal ceroid lipofuscinosis is caused by mutations in the CTSD gene and is associated with a variable age of onset. Journal of Inherited Metabolic Disease, 30(Suppl 1), 93 - 93.
    • de Halac IN, Cismondi I, Kohan R, de Kremer RD, Guelbert N, Muller VJ, Creegan D, Canelli N, Aiello CH, Anzolini VT, Mole S, Xin W, Sims K, Fietz M, Santorelli FM, de Ramirez AMO (2007). Characterization of neuronal ceroid lipofuscinoses in Argentina. J INHERIT METAB DIS, 30, 103 - 103.
    • Heine C, Quitsch A, Storch S, Martin Y, Lonka L, Lehesjoki A-E, Mole SE, Braulke T (2007). Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6. Molecular Membrane Biology, 24, 74 - 87.
    • Ramadan H, Al-Din AS, Ismail A, Balen F, Varma A, Twomey A, Watts R, Jackson R, Anderson G, Green E, Mole SE (2007). Adult-onset neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1 (PPT1). Neurology, 68, 387 - 388.
    • Noher de Halac I, Cismondi I, Kohan R, Dodelson de Kremer R, Guelbert N, Muller VJ, Cregeen D, Canellli N, Aiello CC, Tapia Anzolini V, Mole S, Xin W, Sims K, Frietz M, Santorelli FM, Oller de Ramirez AM (2007). Characterization of neuronal ceroid lipofuscinosis in Argentina.

    2006

    • Mole SE (2006). Neuronal ceroid lipofuscinoses (NCL).. Eur J Paediatr Neurol, 10(5-6), 255 - 257. doi:10.1016/j.ejpn.2006.08.009
    • Leman AR, Polochock S, Mole SE, Pearce DA, Rothberg PG (2006). Homogeneous PCR nucleobase quenching assays to detect four mutations that cause neuronal ceroid lipofuscinosis: T75P and R151X in CLN1, and IVS5-1G > C and R208X in CLN2. J NEUROSCI METH, 157(1), 124 - 131. doi:10.1016/j.jneumeth.2006.04.015
    • Siintola E, Lehesjoki AE, Mole SE (2006). Molecular genetics of the NCLs - status and perspectives. Biochimica et Biophysica Acta (BBA) - Bioenergetics, 1762(10), 857 - 864.
    • Poet M, Kornak U, Schweizer M, Zdebik AA, Scheel O, Hoelter S, Wurst W, Schmitt A, Fuhrmann JC, Planells-Cases R, Mole SE, Hubner CA, Jentsch TJ (2006). Lysosomal storage disease upon disruption of the neuronal chloride transport protein CIC-6. P NATL ACAD SCI USA, 103(37), 13854 - 13859. doi:10.1073/pnas.06061347103
    • Tang C-H, Lee J-W, Galvez MG, Robillard L, Mole SE, Chapman HA (2006). Murine cathepsin F deficiency causes neuronal ceroid lipofuscinosis. Molecular and Cellular Biology, 26(6), 2309 - 2316. doi:10.1128/MCB.26.6.2309-2316.2006
    • Quitsch A, Heine C, Storch S, Lehesjoki AE, Mole SE, Braulke T (2006). Structural requirements for dimerization and ER-retention of the polytopic membrane protein CLN6, defective in variant late infantile neuronal ceroid lipofucinosis.
    • Mole SE (2006). Gene table: Neuronal ceroid lipofuscinoses (NCL). Eur J Paediatr Neurol, 10, 255 - 257.
    • Phillips SN, Muzaffar N, Codlin S, Korey CA, Taschner PEM, de Voer G, Mole SE, Pearce DA (2006). Characterizing pathogenic processes in Batten disease: Use of small eukaryotic model systems. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 1762(10), 906 - 919. doi:10.1016/j.bbadis.2006.08.010
    • (2006). Molecular basis of NCL. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1762(10), 849 - 954. doi:10.1016/j.bbadis.2006.10.005

    2005

    • Porter MY, Turmaine M, Mole SE (2005). Identification and characterization of Caenorhabditis elegans palmitoyl protein thioesterase1. J NEUROSCI RES, 79(6), 836 - 848. doi:10.1002/jnr.20403
    • Pineda-Trujillo N, Cornejo W, Carrizosa J, Wheeler RB, Munera S, Valencia A, Agudelo-Arango J, Cogollo A, Anderson G, Bedoya G, Mole SE, Ruiz-Linares A (2005). A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset. Neurology, 64(4), 740 - 742.
    • Mole SE, Williams RE, Goebel HH (2005). Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. NEUROGENETICS, 6(3), 107 - 126. doi:10.1007/s10048-005-0218-3
    • Gachet Y, Codlin S, Hyams JS, Mole SE (2005). btn1, the Schizosaccharomyces pombe homologue of the human Batten disease gene CLN3, regulates vacuole homeostasis. J CELL SCI, 118(23), 5525 - 5536. doi:10.1242/jcs.02656
    • Rothberg PG, Leman AR, Ramirez-Montealegre D, Mole SE, Pearce DA (2005). A homogeneous PCR method for rapid detection of the most common mutations in the neuronal ceroid lipofuscinosis genes CLN1 and CLN2..

    2004

    • Mole SE (2004). Neuronal ceroid lipofuscinoses (NCL). European Journal of Paediatric Neurology, 8(2), 101 - 103.
    • Mole SE, Sharp JD, Wheeler RB, Gardiner RM, Williams RE, Cutler D (2004). Molecular genetics and biology of CLN6.
    • Mole SE (2004). The genetic spectrum of human neuronal ceroid-lipofuscinoses. Brain Pathology, 14(1), 70 - 76.
    • Codlin S, Porter M, Gachet Y, Hyams JS, Mole SE (2004). The fission yeast Schizosaccharomyces pombe and the nematode worm Caenorhabditis elegans as model systems for studying the basic biology of CLN1 and CLN3.
    • Ranta S, Topcu M, Tegelberg S, Tan H, Ustubutu A, Saatci I, Dufke A, Enders H, Pohl K, Alembik Y, Mitchell WA, Mole SE, Lehesjoki AE (2004). Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. Human Mutation, 23(4), 300 - 305.
    • Tyynela J, Autti T, Haltia M, Mole SE (2004). Pirkko Santavuori (1933-2004). Journal of Child Neurology, 19(6), 465 - 470.
    • Mole SE, Michaux G, Codlin S, Wheeler RB, Sharp JD, Cutler DF (2004). CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein. EXP CELL RES, 298(2), 399 - 406. doi:10.1016/j.yexcr.2004.04.042

    2003

    • Sharp JD, Wheeler RB, Parker KA, Gardiner RM, Williams RE, Mole SE (2003). Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis. Human Mutation, 22(1), 35 - 42. doi:10.1002/humu.10227

    2002

    • Wheeler RB, Sharp JD, Schultz RA, Joslin JM, Williams RE, Mole SE (2002). The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein. The American Journal of Human Genetics, 70(2), 537 - 542.
    • Mole SE (2002). Gene table: neuronal ceroid lipofuscinoses. European Journal of Paediatric Neurology, 6(2), 129 - 130.

    2001

    • Mole SE, Zhong NA, Sarpong A, Logan WP, Hofmann S, Yi W, Franken PF, van Diggelen OP, Breuning MH, Moroziewicz D, Ju W, Salonen T, Holmberg V, Jarvela I, Taschner PE (2001). New mutations in the neuronal ceroid lipofuscinosis genes. European Journal of Paediatric Neurology, 5 Supp, 7 - 10.
    • Sharp JD, Wheeler RB, Schultz RA, Joslin JM, Mole SE, Williams RE, Gardiner RM (2001). Analysis of candidate genes in the CLN6 critical region using in silico cloning. European Journal of Paediatric Neurology, 5 Supp, 29 - 31.
    • Mole S (2001). Neuronal ceroid lipofuscinoses.. Eur J Paediatr Neurol, 5(5), 211 - 212. doi:10.1053/ejpn.2001.0514
    • Mitchison HM, Mole SE (2001). Neurodegenerative disease: the neuronal ceroid lipofuscinoses (Batten disease). Current Opinion in Neurology, 14(6), 795 - 803.
    • Wheeler RB, Sharp JD, Schultz RA, Mole SE, Williams RE, Gardiner RM (2001). In Silico Cloning: the identification of genes within the CLN6 critical region.. AM J HUM GENET, 69(4), 451 - 451.
    • Leung KY, Greene NDE, Munroe PB, Mole SE (2001). Identification of a transactivation motif in the CLN3 protein. IUBMB LIFE, 51(5), 295 - 298.
    • Leung KY, Greene ND, Munroe PB, Mole SE (2001). Analysis of CLN3-protein interactions using the yeast two-hybrid system. European Journal of Paediatric Neurology, 5 Supp, 89 - 93.
    • Mole SE (2001). Gene Table: Neuronal ceroid lipofuscinoses (NCL). European Journal of Paediatric Neurology, 5, 211 - 212.
    • Mitchell WA, Wheeler RB, Sharp JD, Bate SL, Gardiner RM, Ranta US, Lonka L, Williams RE, Lehesjoki AE, Mole SE (2001). Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8. European Journal of Paediatric Neurology, 5 Supp, 21 - 27.
    • Mitchell WA, Porter M, Kuwabara P, Mole SE (2001). Genomic structure of three CLN3-like genes in Caenorhabditis elegans.. Eur J Paediatr Neurol, 5 Suppl A, 121 - 125.

    2000

    • Wheeler RB, Sharp JD, Schultz RA, Joslin JM, Lake BD, Mole SE, Williams RE, Gardiner RM (2000). Gene identification on chromosome 15q21-23 in a 200 Kb region spanning the CLN6 disease gene locus.
    • Eksandh LB, Ponjavic VB, Munroe PB, Eiberg HE, Uvebrant PE, Ehinger BE, Mole SE, Andréasson S (2000). Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene.. Ophthalmic Genet, 21(2), 69 - 77.

    1999

    • Ranta S, Zhang Y, Lonka L, Messer A, Mole S, Wheeler R, Sharp J, Hirvasniemi A, de la Chapelle A, Gilliam TC, Lehesjoki AE (1999). Neuronal ceroid lipofuscinosis: A novel gene (CLN8) is mutated in human progressive epilepsy with mental retardation and the motor neuron degeneration mouse model.
    • Greene NDE, Bernard DJ, Taschner PEM, de Vos N, Breuning MH, Gardiner RM, Mole SE, Nussbaum RL, Mitchison HM (1999). Mice with a targeted disruption of the Batten disease gene (CLN3) display a progressive storage disorder.
    • Mole S, Gardiner RM (1999). Molecular genetics of the neuronal ceroid lipofuscinoses. Epilepsia, 40 (Su, 29 - 32.
    • Mitchell W, Bate SL, Wheeler RB, Sharp JD, Sattar A, Lake BD, Gardiner RM, Mole SE (1999). Homozygosity mapping of a new variant late infantile NCL (Turkish variant, CLN7).
    • Mole SE (1999). Batten's disease: eight genes and still counting?. The Lancet, 354(9177), 443 - 445.
    • Mole S (1999). Neuronal ceroid lipofuscinoses.. Eur J Paediatr Neurol, 3(1), 43 - 44. doi:10.1053/ejpn.1999.0179
    • Leung KY, Greene ND, Munroe PB, Gardiner RM, Mole S (1999). Analysis of the structure and function of the Batten disease protein, CLN3.
    • Goebel HH, Mole SE, Lake BD (1999). The neuronal ceroid lipofuscinoses (Batten disease).
    • Stephenson JB, Greene ND, Leung KY, Munroe PB, Mole SE, Gardiner RM, Taschner PE, O'Regan M, Naismith K, Crow YJ, Mitchison HM (1999). The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland.. MOLECULAR GENETICS AND METABOLISM, 66(4), 245 - 247.
    • Sharp JD, Wheeler RB, Schultz RA, Joslin JM, Lake BD, Fox M, Mole SE, Williams RE, Gardiner RM (1999). Physical and transcript mapping of the CLN6 critcal region on chromosome 15q22-23.. AM J HUM GENET, 65(4), A419 - A419.
    • Ranta S, Zhang Y, Ross B, Lonka L, Takkunen E, Messer A, Sharp J, Wheeler R, Kusumi K, Mole S, Liu W, Soares MB, Bonaldo MF, Hirvasniemi A, de la CA, Gilliam TC, Lehesjoki AE (1999). The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. Nature Genetics, 23(2), 233 - 236.
    • Ranta S, Zhang Y, Lonka L, Messer A, Mole S, Wheeler R, Sharp J, Hirvasniemi A, de la Chapelle A, Gilliam TC, Lehesjoki AE (1999). Neuronal ceroid lipofuscinosis: A novel gene (CLN8) is mutated in human progressive epilepsy with mental retardation and the motor neuron degeneration mouse model.. AM J HUM GENET, 65(4), A5 - A5.
    • Greene NDE, Bernard DL, Taschner PEM, Lake BD, de Vos N, Breuning MH, Gardiner RM, Mole SE, Nussbaum RL, Mitchison HM (1999). A murine model for juvenile NCL: Gene targeting of mouse CLn3 (vol 66, pg 309, 1999). MOL GENET METAB, 67(4), 368 - 368.
    • Mole SE, Mitchison HM, Munroe PB (1999). Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5. Human Mutation, 14(3), 199 - 215.
    • Greene NDE, Bernard DL, Taschner PEM, Lake BD, de Vos N, Breuning MH, Gardiner RM, Mole SE, Nussbaum RL, Mitchison HM (1999). A murine model for juvenile NCL: Gene targeting of mouse Cln3. MOLECULAR GENETICS AND METABOLISM, 66(4), 309 - 313.
    • Eksandh LC, Mole S, Eiberg H, Munroe P, Andreasson S, Ehinger B (1999). Full-field ERG in patients with Spielmeyer-Vogt/Batten disease caused by mutations in the CLN3 gene. INVEST OPHTH VIS SCI, 40(4), S604 - S604.
    • Lauronen L, Munroe PB, Jarvela I, Autti T, Mitchison HM, O'Rawe AM, Gardiner RM, Mole SE, Puranen J, Hakkinen AM, Kirveskari E, Santavuori P (1999). Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis. NEUROLOGY, 52(2), 360 - 365.
    • Mole SE (1999). Gene Table: Neuronal ceroid lipofuscinoes (NCL). European Journal of Paediatric Neurology, 3, 43 - 44.

    1998

    • Mole SE (1998). Westcountry TV Ltd.
    • Mole SE, Gardiner RM, Goebel HH (1998). Workshop on the genetic and molecular basis of the NCLs. London, UK. 13-16 November 1997. European Journal of Paediatric Neurology, 2(2), A1 - A18.
    • Mole SE (1998). Physical mapping of the short arm of human chromosome 16. In Hallen M (Ed.), Biomedical and Health Research (pp. 129 - 149). : IOS Press.
    • Mitchison HM, Hofmann SL, Becerra CHR, Munroe PB, Lake BD, Crow YJ, Stephenson JBP, Williams RE, Hofman IL, Martin J, Philippart M, Andermann E, Andermann F, Mole SE, Gardiner RM, O'Rawe AM (1998). Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
    • Mitchison HM, Bernard DL, Greene NDE, Taschner PEM, de Vos N, Breuning MH, Mole SE, Gardiner RM, Lake BD, Nussbaum RL (1998). Mice with a targeted disruption of the Batten disease gene (CLN3) display a progressive storage disorder.
    • Mole SE, Gardiner RM, Goebel HH (1998). Workshop on the genetic and molecular basis of the neuronal ceroid lipofuscinoses. London, UK, 13-16 November 1997. Report and abstracts.. Eur J Paediatr Neurol, 2(2), A1 - 17.
    • Munroe PB, Greene NDE, Leung K, Mole SE, Gardiner RM, Mitchison HM, Stephenson JBP, Crow YJ (1998). Sharing of mutations between distinct clinical forms of neuronal ceroid lipofuscinosis in patients from Scotland. Journal of Medical Genetics, 35, 790 - 790.
    • Greene NDE, Bernard DL, Mole SE, Gardiner RM, Nussbaum RL, Mitchison HM, Taschner PEM, de Vos N, Breuning MH (1998). Progress towards development of mouse models for JNCL.
    • Mitchison HM, Hofmann SL, Becerra CHR, Munroe PB, Lake BD, Crow YJ, Stephenson JBP, Williams RE, Hofman IL, Taschner PEM, Martin J, Philippart M, Andermann E, Andermann F, Mole SE, Gardiner RM, O'Rawe AM (1998). Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. Human Molecular Genetics, 7, 291 - 297.
    • Munroe PB, Mitchison HM, O'Rawe AM, Anderson JW, Boustany RN, Lerner TJ, Taschner PEM, de Vos N, Breuning MH, Jarvela IE, Gardiner RM, Mole SE (1998). Mutational analysis of the CLN3 gene.
    • Williams RE, Verloes A, Munroe PB, Sharp JD, Wheeler RB, Gardiner RM, Mole SE (1998). Genetic analysis of adult onset neuronal ceroid lipofuscinosis (Kufs' disease).
    • Leung K, Greene NDE, Munroe PB, Gardiner RM, Mole SE (1998). Fishing for interaction with the CLN3 protein.
    • Greenham J, Adams M, Doggett N, Mole S (1998). Elucidation of the exon-intron structure and size of the human protein kinase C beta gene (PRKCB).. Hum Genet, 103(4), 483 - 487.
    • Mitchison HN, Hofmann SL, Becerra CHR, Munroe PB, Lake BD, Crow YJ, Stephenson JBP, Williams RE, Hofman IL, Taschner PEM, Martin JJ, Philippart M, Andermann E, Andermann F, Mole SE, Gardiner RM, O'Rawe AM (1998). Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits (vol 7, pg 291, 1998). HUM MOL GENET, 7(4), 765 - 765.
    • Mole SE (1998). Batten disease: Four genes and still counting. Neurobiology of Disease, 5, 287 - 303.
    • Taschner PEM, de Vos N, Breuning MH, Mitchison HM, Greene NDE, Gardiner RM, Mole SE, Nussbaum RL (1998). Development of a CLN3 knock-out mouse model for Batten disease.
    • Lindner K, Mole SE, Lane DP, Kenny MK (1998). Epitope mapping of antibodies recognising the N-terminal domain of simian virus large tumour antigen. INTERVIROLOGY, 41(1), 10 - 16.

    1997

    • Munroe PB, Mitchison HM, O'Rawe AM, Anderson JW, Boustany RN, Lerner TJ, Taschner PEM, de Vos N, Breuning MH, Gardiner RM, Mole SE (1997). Spectrum of mutations in the Batten disease gene, CLN3. The American Journal of Human Genetics, 61, 310 - 316.
    • Mitchison HM, Taschner PEM, Kremmidiotis G, Callen DF, Doggett NA, Lerner TJ, Janes RB, Wallace BA, Munroe PB, O'Rawe AM, Gardiner RM, Mole SE (1997). Structure of the CLN3 gene and predicted structure, location and function of CLN3 protein. Neuropediatrics, 28, 12 - 14.
    • Jarvela IE, Mitchison HM, Munroe PB, O'Rawe AM, Mole SE, Syvanen A (1997). Rapid diagnostic test for the major mutation underlying Batten disease. Journal of Medical Genetics, 33, 1041 - 1042.
    • Munroe PB, O'Rawe AM, Mitchison HM, Jarvela IE, Santavuori P, Lerner TJ, Taschner PEM, Gardiner RM, Mole SE (1997). Strategy for mutation detection in CLN3: characterisation of two Finnish mutations. Neuropediatrics, 28, 15 - 17.
    • Mole SE (1997). Gene table: Neuronal ceroid lipofuscinoses (NCL). European Journal of Paediatric Neurology, 5/6, 187 - 187.
    • ORawe A, Mitchison HM, Williams R, Wheeler R, Andermann E, Andermann F, Hart YM, Martin JJ, Philippart M, Stephenson JBP, Gardiner RM, Mole SE (1997). Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits. NEUROPEDIATRICS, 28(1), 21 - 22.
    • Mitchison HM, Munroe PB, ORawe AM, Taschner PEM, DeVos N, Kremmidiotis G, Lensink I, Munk AC, DArigo KL, Anderson JW, Lerner TJ, Moyzis RK, Callen DF, Breuning MH, Doggett NA, Gardiner RM, Mole SE (1997). Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3. GENOMICS, 40(2), 346 - 350.
    • Mitchison HM, Hofmann SL, Becerra CHR, Munroe PB, Gardiner RM, Mole SE, O'Rawe AM (1997). A variant of juvenile-onset Batten disease is allelic with infantile Batten disease.

    1996

    • Altherr MR, Auerbach AD, Biggs PO, Burn TC, Breuning MH, Peters DJM, Taschner P, Giles R, vanderReijden B, Callen DF, CletonJansen AM, Daniels R, Doggett NA, DorionBonnet F, Driouch K, Gibson R, Ingvarsson S, Kastner DL, KwitekBlack AE, Landegent JE, Loder B, Matthijs G, Mole SE, Olsson PG, Porter CJ, Pronk JC, Ricke DO, Sandford R, Savoia A, Siciliano MJ, Sood R (1996). Report of the fourth international workshop on human chromosome 16 mapping 1995 - Held on 12-14 November 1995 at the University of Leiden, The Netherlands. CYTOGENET CELL GENET, 72(4), 271 - 285.
    • Mole SE (1996). Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses.. Journal of Inherited Metabolic Disease, 19, 269 - 274.
    • Jarvela I, Mitchison HM, Munroe PB, O'Rawe AM, Mole SE, Syvanen AC (1996). Rapid diagnostic test for the major mutation underlying Batten disease. Journal of Medical Genetics, 33, 1041 - 1042.
    • Mole SE, Greenham JA, Creavin TA, Doggett NA, Jarvela IE, Mitchison HM, Munroe PB (1996). Physical and transcriptional mapping of 16p12.3-p12.1. CYTOGENET CELL GENET, 72(4), 17 - 17.
    • Munroe PB, Rapola J, Mitchison HM, Mustonen A, Mole SE, Gardiner RM, Jarvela I (1996). Prenatal diagnosis of Batten's disease. The Lancet, 347, 1014 - 1015.
    • Janes RW, Munroe PM, Mitchison HM, Gardiner RM, Mole SE, Wallace BB (1996). A model for Batten disease protein CLN3: functional implications from homology and mutations. Federation of European Biochemical Societies Letters, 399, 75 - 77.

    1995

    • Mole SE (1995). BBC News Room Southeast.
    • JARVELA IE, MITCHISON HM, GARDINER RM, CALLEN DF, BREUNING MH, LEMER TJ, MOLE SE, DOGGETT NA, DOOLEY TP (1995). LONG-RANGE RESTRICTION MAP OF A YAC CONTIG IN THE BATTEN-DISEASE REGION OF CHROMOSOME-16 AND EXCLUSION OF POTENTIAL CANDIDATE GENES FROM THIS REGION. CYTOGENET CELL GENET, 68(3-4), 183 - 184.
    • Järvelä IE, Mitchison HM, Callen DF, Lerner TJ, Doggett NA, Taschner PEM, GardinerR M M, S E (1995). Physical map of the region containing the gene for Batten disease (CLN3). American Journal of Medical Genetics Part A, 57, 316 - 319.
    • TASCHNER PEM, DEVOS N, THOMPSON AD, CALLEN DF, DOGGETT N, MOLE SE, DOOLEY TP, BARTH PG, BREUNING MH (1995). CHROMOSOME-16 MICRODELETION IN A PATIENT WITH JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS (BATTEN-DISEASE). AM J HUM GENET, 56(3), 663 - 668.
    • Mitchison HM, O'Rawe AM, Taschner PEM, Sandkuijl LA, Santavuori P, de Vos N, Breuning MH, Mole SE, GardinerR M J, I E (1995). Batten disease, CLN3: Linkage disequilibrium mapping in the Finnish population and analysis of European haplotypes. The American Journal of Human Genetics, 56, 654 - 662.
    • LERNER TJ, KREMMIDIOTIS G, BOUSTANY RMN, ANDERSON JW, DARIGO KL, BUCKLER AJ, GUSELLA JF, TASCHNER PEM, DEVOS N, MEINCKE LJ, MITCHISON HM, ORAWE A, MUNROE PB, JARVELA IE, LENSINK IL, GARDINER RM, SUTHERLAND GR, CALLEN DF, DOGGETT NA, BREUNING MH, MOLE SE, HAINES JL (1995). BATTEN-DISEASE .1. ISOLATION OF A CANDIDATE GENE FOR CLN3. AM J HUM GENET, 57(4), 23 - 23.
    • Munroe PB, Mitchison HM, Dooley TP, Gardiner RM, Mole SE (1995). Analysis of Batten disease candidate genes STP and STM. American Journal of Medical Genetics Part A, 57, 324 - 326.
    • MITCHISON HM, MUNROE PB, ORAWE AM, TASCHNER PEM, KREMMIDIOTIS G, LENSINK I, MEINCKE LI, DARIGO KL, DEVOS N, GARDINER RM, CALLEN DF, BREUNING MH, LERNER TI, DOGGETT NA, MOLE SE (1995). BATTEN-DISEASE .3. GENOMIC STRUCTURE OF A CANDIDATE FOR CLN3. AM J HUM GENET, 57(4), 836 - 836.
    • TASCHNER PEM, MITCHISON HM, KREMMIDIOTIS G, ORAWE A, MUNROE PB, DEVOS N, BOUSTANY RM, LENSINK I, MEINCKE LJ, ANDERSON JW, DARIGO KL, JARVELA IE, BUCKLER AJ, GUSELLA JF, HAINES JL, GARDINER RM, SUTHERLAND GR, DOGGETT NA, CALLEN DF, MOLE SE, LERNER TJ, BREUNING MH (1995). BATTEN-DISEASE .2. GENOMIC ALTERATIONS IN CLN3. AM J HUM GENET, 57(4), 1328 - 1328.
    • Dooley TP, Probst P, Obermoeller RD, Sicilano M, Doggett NA, Callen DF, Mitchison HM, Mole SE (1995). Phenol sulfotransferases: Candidate genes for Batten disease. American Journal of Medical Genetics Part A, 57, 327 - 332.
    • Mitchison HM, O'Rawe AM, Lerner TJ, Taschner PEM, Schlumpf K, D'Arigo K, de Vos N, Phillips HA, Thompson AD, Gormally E, Hart YM, Andermann E, Callen DF, Breuning MH, Gardiner RM, Mole SE (1995). Refined localisation of the Batten Disease gene (CLN3) by haplotype and linkage disequilibrium mapping to D16S288-D16S383 and exclusion from this region of a variant form of Batten disease with granular osmiophilic deposits. American Journal of Medical Genetics Part A, 57, 312 - 315.
    • LERNER TJ, BOUSTANY RMN, ANDERSON JW, DARIGO KL, SCHLUMPF K, BUCKLER AJ, GUSELLA JF, HAINES JL, KREMMIDIOTIS G, LENSINK IL, SUTHERLAND GR, CALLEN DF, TASCHNER PEM, DEVOS N, VANOMMEN GJB, BREUNING MH, DOGGETT NA, MEINCKE LJ, LIU ZY, GOODWIN LA, TESMER JG, MITCHISON HM, ORAWE AM, MUNROE PB, JARVELA IE, GARDINER RM, MOLE SE (1995). ISOLATION OF A NOVEL GENE UNDERLYING BATTEN-DISEASE, CLN3. CELL, 82(6), 949 - 957.
    • Järvelä IE, Mitchison HM, O'Rawe AM, Munroe PB, Taschner PEM, de Vos N, Lerner TJ, D'Arigo KL, Callen DF, Thompson AD, Knight M, Marrone BL, Mundt MO, Meincke L, Breuning MH, Gardiner RM, Doggett NA, Mole SE (1995). YAC and cosmid contigs spanning the Batten disease (CLN3) region at 16p12.1-p11.2. Genomics, 29, 478 - 489.

    1994

    • Tunnacliffe A, Jackson MS, Gardner E, Moore JK, Mole SE, Mulligan LM, Graham A, Fiocchiaro G, Ørstavik S, Ponder BAJ (1994). A multiple interval physical map of the pericentromeric region of human chromosome 10. Human Genetics, 93, 313 - 318.
    • DOOLEY TP, MITCHISON HM, MUNROE PB, PROBST P, NEAL M, SICILIANO MJ, DENG ZM, DOGGETT NA, CALLEN DF, GARDINER RM, MOLE SE (1994). MAPPING OF 2 PHENOL SULFOTRANSFERASE GENES, STP AND STM, TO 16P - CANDIDATE GENES FOR BATTEN-DISEASE. BIOCHEM BIOPH RES CO, 205(1), 482 - 489.
    • DOOLEY TP, PROBST P, MUNROE PB, MOLE SE, LIU Z, DOGGETT NA (1994). GENOMIC ORGANIZATION AND DNA-SEQUENCE OF THE HUMAN CATECHOLAMINE-SULFATING PHENOL SULFOTRANSFERASE GENE (STM). BIOCHEM BIOPH RES CO, 205(2), 1325 - 1332.
    • MITCHISON HM, TASCHNER PEM, ORAWE AM, DEVOS N, PHILLIPS HA, THOMPSON AD, KOZMAN HM, HAINES JL, SCHLUMPF K, DARIGO K, BOUSTANY RMN, CALLEN DF, BREUNING MH, GARDINER RM, MOLE SE, LERNER TJ (1994). GENETIC-MAPPING OF THE BATTEN-DISEASE LOCUS (CLN3) TO THE INTERVAL D165288-D165383 BY ANALYSIS OF HAPLOTYPES AND ALLELIC ASSOCIATION. GENOMICS, 22(2), 465 - 468.
    • Mole SE (1994). Epitope mapping. In Walker J (Ed.), Molecular Biotechnology (pp. 277 - 287). : Humana Press Inc..

    1993

    • Kölble K, Lu J, Mole SE, Kaluz S, Reid KBM (1993). Assignment of the human pulmonary surfactant protein D gene (SFTP4) to 10q22-q23 close to the surfactant protein A gene cluster. Genomics, 17, 294 - 298.
    • Mole SE, Jackson MS, Tokino T, Nakamura Y, Ponder BA (1993). Assignment of fifty-four cosmid clones to five regions of chromosome 10.. Genomics, 15(2), 457 - 458. doi:10.1006/geno.1993.1090
    • Mole SE, Mulligan LM (1993). Strategies for isolating genes in hereditary and sporadic tumors. In Levine AJ, Schmidek HH (Ed.), Molecular genetics of nervous system tumors (pp. 195 - 208). : Wiley-Liss, Inc.
    • MOLE SE, MULLIGAN LM, HEALEY CS, PONDER BAJ, TUNNACLIFFE A (1993). LOCALIZATION OF THE GENE FOR MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A TO A 480-KB REGION IN CHROMOSOME BAND 10Q11.2. HUM MOL GENET, 2(3), 247 - 252.
    • MULLIGAN LM, KWOK JBJ, HEALEY CS, ELSDON MJ, ENG C, GARDNER E, LOVE DR, MOLE SE, MOORE JK, PAPI L, PONDER MA, TELENIUS H, TUNNACLIFFE A, PONDER BAJ (1993). GERM-LINE MUTATIONS OF THE RET PROTOONCOGENE IN MULTIPLE ENDOCRINE NEOPLASIA TYPE-2A. NATURE, 363(6428), 458 - 460.
    • Mole SE, Gardiner RM (1993). Molecular genetic analysis of neuronal ceroid lipofuscinosis. International Journal of Neurology, 25-26, 52 - 59.
    • MOLE SE, JACKSON MS, TOKINO T, NAKAMURA Y, PONDER BAJ (1993). ASSIGNMENT OF 54 COSMID CLONES TO 5 REGIONS OF CHROMOSOME-10. GENOMICS, 15(2), 457 - 458.
    • MITCHISON HM, ORAWE AM, THOMPSON AD, KNIGHT M, CALLEN DF, DOGGETT NA, GARDINER RM, MOLE SE (1993). GENETIC-MAPPING OF THE BATTEN-DISEASE LOCUS (CLN3) TO THE INTERVAL D16S288-D16S383 BY ANALYSIS OF HAPLOTYPES AND ALLELIC ASSOCIATION. AM J HUM GENET, 53(3), 1047 - 1047.
    • GARDNER E, PAPI L, EASTON DF, CUMMINGS T, JACKSON CE, KAPLAN M, LOVE DR, MOLE SE, MOORE JK, MULLIGAN LM, NORUM RA, PONDER MA, REICHLIN S, STALL G, TELENIUS H, TELENIUSBERG M, TUNNACLIFFE A, PONDER BAJ (1993). GENETIC-LINKAGE STUDIES MAP THE MULTIPLE ENDOCRINE NEOPLASIA TYPE-2 LOCI TO A SMALL INTERVAL ON CHROMOSOME 10Q11.2. HUM MOL GENET, 2(3), 241 - 246.

    1992

    • Mole SE (1992). Epitope mapping.. Methods Mol Biol, 10, 105 - 116. doi:10.1385/0-89603-204-3:105
    • Decker RA, Ponder BA, Mole SE, Weber JL (1992). Dinucleotide repeat polymorphisms at the D10S183 and D10S245 loci.. Hum Mol Genet, 1(9), 777 - .
    • Mole SE (1992). Epitope mapping. In Manson MM (Ed.), Methods in Molecular Biology: Immunochemical Protocols (pp. 105 - 116). : Humana Press Inc..
    • JACKSON MS, MOLE SE, PONDER BAJ (1992). CHARACTERIZATION OF A BOUNDARY BETWEEN SATELLITE-III AND ALPHOID SEQUENCES ON HUMAN CHROMOSOME-10. NUCLEIC ACIDS RES, 20(18), 4781 - 4787.

    1991

    • Mulligan LM, Gardner E, Jones C, Mole SE, Moore J, Nakamura Y, Papi L, Telenius H, Ponder BAJ (1991). Clinical and molecular genetics of multiple endocrine neoplasia type 2A (MEN2A). In (Ed.), Medullary Thyroid Carcinoma (pp. 137 - 143). : John Libbey Eurotext Ltd.
    • Mole SE, Tunnacliffe A, Mulligan LM, Cervini R, Finocciaro G, Thiesen H-JN, Y P, B AJ (1991). The generation and physical mapping of markers on chromosome 10. Cytogenetics and Cell Genetics, 58, 1951 - 1952.
    • MULLIGAN LM, GARDNER E, MOLE SE, NAKAMURA Y, PAPI L, TELENIUS H, PONDER BAJ (1991). IS THE RET PROTOONCOGENE A CANDIDATE FOR THE MEN2 GENE. AM J HUM GENET, 49(4), 414 - 414.
    • GARDNER E, EASTON D, MOLE SE, MULLIGAN LM, TELENIUS H, PAPI L, PONDER BA (1991). EXTENDING THE GENETIC-MAP OF THE PERICENTROMERIC REGION OF CHROMOSOME-10. CYTOGENET CELL GENET, 58(3-4), 1949 - 1949.

    1989

    • MOLE SE, GANNON JV, ANTON IA, FORD MJ, LANE DP (1989). HOST PROTEINS THAT BIND TO OR MIMIC SV40 LARGE T-ANTIGEN - USING ANTIBODIES TO LOOK AT PROTEIN INTERACTIONS AND THEIR SIGNIFICANCE. IMMUNOLOGY, , 80 - 86.
    • Mole SE, Iggo RD, Lane DP (1989). Using the polymerase chain reaction to modify expression plasmids for epitope mapping. Nucleic Acids Research, 17, 3319 - 3319.

    1987

    • Mole SE, Gannon JV, Ford MJL, D P (1987). Structure and function of SV40 large T antigen. In (Ed.), Eukaryotic Chromosome replication (pp. - ). : .
    • Mole SE, Lane DP (1987). pSEMCatR1: a procaryotic-eucaryotic shuttle vector compatible with pUR and λgt11 expression systems. Nucleic Acids Research, 15, 9090 - 9090.
    • Mole SE, Lane DP (1987). Production of monoclonal antibodies against fusion proteins produced in Escherichia coli. In Glover DM (Ed.), Practical approach: DNA cloning III (pp. 113 - 139). : .

    1985

    • Lane DP, Gannon JV, Brennan SPJ, Mole SE (1985). Investigating the specificity of monoclonal antibodies to protein antigens using ß-galactosidase fusion proteins. In Reid E, Cook GMW, Morre DJ (Ed.), Investigations and exploitation of antibody combining sites (pp. 75 - 82). : Plenum Publishing Corporation.
    • Lane DP, Simanis V, Bartsch R, Yewdell J, Gannon J, Mole S (1985). Cellular targets for SV40 large T antigen. In (Ed.), Oncogenes: their role in normal and malignant growth (pp. 25 - 42). : .
    • Mole SE, Lane DP (1985). Use of simian virus 40 large T - ß-galactosidase fusion proteins in an immunochemical analysis of simian virus 40 large T antigen. Journal of Virology, 54, 703 - 710.