Sara Mole Research Group

1983 BA, University of Cambridge
1986 PhD, University of London, Imperial College of Science and Technology, UK
Sara Mole
Tel: 020 7679 7257
Fax: 020 7679 7805
Email: 
s.mole@ucl.ac.uk
Previous Posts: 
1986 - Postdoctoral Fellow at Imperial Cancer Research Fund
1989 - Postdoctoral Fellow at University of Cambridge
1992 - Lecturer in Molecular Genetics, Department of Paediatrics, University College London
1997 - Senior Lecturer in Molecular Genetics, Department of Paediatrics, UCL
2004 - Group Leader, MRC Laboratory for Molecular Cell Biology
2005 - Reader in Molecular Cell Biology, UCL

Genetics and biology of disease

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The lab is 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. We are interested in neurodegenerative diseases in particular. The molecular basis for most late onset cases is unknown, however, a small % is genetic, often causing earlier onset, and some genes have been identified. Combinations of variations in these genes are likely to contribute to the later onset disease. Identifying and characterising the biology of all neurodegenerative genes will give invaluable information on pathways that lead to neurodegeneration. These pathways will provide new therapeutic targets to delay onset of neurodegeneration.

We have focused for many years on the molecular genetics and biology of the neuronal ceroid lipofuscinoses (NCL), or Batten disease (see NCL Resource web site). These are the most common neurodegenerative disorders of childhood. Children suffer from progressive blindness, seizures, and decreasing cognitive and motor abilities, leading to premature death. The disease is characterised by the early accumulation of autofluorescent material in the lysosomes of most cells, and the eventual death of cortical neurons. Since lipofuscin accumulates during the normal ageing process, understanding the molecular basis of NCL disease may shed light on the biology of late onset neurodegeneration and even ageing. We are also interested in Chediak-Higashi Syndrome, another severe lysosome storage disorder with immunological defects and neurodegeneration.

Our approach is to use molecular genetics to identify disease genes, and to use mammalian cell systems and a simple model system to extend our knowledge of the biology of these genes and to provide new therapeutic targets and a system for screening small molecules. We currently use Schizosaccharomyces pombe, a fission yeast that has many small vacuoles, like mammalian lysosomes. We have a particular interest in the function of conserved NCL proteins, and of those located upstream of the lysosome.

Identification of NCL genes

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Most NCLs are inherited in an autosomal recessive manner. A molecular genetic approach has identified many of the NCL genes, with eight human genes identified so far, and several additional genes identified in mouse models. We now concentrate on identifying the genes causing rare, variant or unusual types of NCLs, making increasing use new technologies . Since 2006, much of this work is being done collaboratively with the Rare NCL Gene Consortium. We are also interested in mutations that affect known NCL genes but cause atypical disease phenotypes. All NCL genetic data is deposited in the Mutation Database for the NCLs and associated pages.

Use of fission yeast as a model system for disease

Yeast is a great model system for studying the basic biology of conserved disease genes because it is a unicellular organism with around 5000 genes and is genetically tractable. For our work studying diseases that affect the lysosome, the fission yeast Schizosaccharomyces pombe is ideal because this rod-shaped yeast has many small vacuoles (equivalent to mammalian lysosomes). We study the effect on cells of deleting or overexpressing human disease genes, and of mimicking disease-causing or targeted mutations. We also identify and investigate genes that interact genetically with the disease gene to identify the biological pathways in which the disease gene functions, since these may lead to the development of new therapies. We take our results using yeast to ask informed questions in mammalian cells, to further understand the biology of the proteins that cause disease, and their relevance to neuronal cell death.

 

So far, most work has used btn1, the yeast orthologue of the NCL gene CLN3, and this approach has revealed several novel aspects of Btn1, and therefore, CLN3 function. As well as affecting vacuole homeostasis, Btn1 also affects other independent pathways, and disease-causing missense mutations in Btn1 differentially affect these pathways, providing an explanation for variation in disease phenotype. One of our most significant recent findings is that Btn1 is a Golgi protein, and its deletion affects the morphology of these organelles. There are many trafficking pathways from the Golgi, so this explains why so many phenotypes occur when the yeast gene is deleted. This work led us to reconsider juvenile CLN3 disease, and we showed that the mutation found in most patients world-wide does not completely abolish CLN3 function. Other mutations in CLN3 may therefore cause different diseases.

 

We also use yeast to study lvs1, the homologue of the Chediak-Higashi Syndrome (CHS) gene. When lvs1 is deleted the yeast vacuoles are very large.

 

Additional

Links:

NCL Resource web site http://www.ucl.ac.uk/ncl/

MCL Mutation Database http://www.ucl.ac.uk/ncl/mutation.shtml

Rare NCL Gene Consortium http://www.ucl.ac.uk/ncl/RNGC.shtml

Books:

The Neuronal Ceroid Lipofuscinoses (Batten Disease) - edited by H.H. Goebel, S.E. Mole and B.D. Lake. 1999. IOS Press

The Neuronal Ceroid Lipofuscinoses (Batten Disease) - 2nd edition , edited by S.E. Mole, R. E Williams and H.H. Goebel, 2012. OUP Press

Journal issues:

Molecular basis of NCL - edited by S.E. Mole, A. Jalanko and G. Dawson

Biochim Biophys Acta - Molecular Basis of Disease Special Issue - 1762 (10): 849-954. 2006

Recent advances in the neuronal ceroid lipofuscinoses - edited by H.M. Mitchison and S.E. Mole

Eur J Paed Neurol - Supplement - 5 (Suppl A): 1-217. 2001

Lab Members: 
Publications
Jump to: 2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2006 | 2005 | 2004 | 2003 | 2002 | 2001 | 2000 | 1999 | 1998 | 1997 | 1996 | 1995 | 1994 | 1993 | 1992 | 1991 | 1989 | 1987 | 1985
Number of items: 172.

2014

Cortese, A; Tucci, A; Piccolo, G; Galimberti, CA; Fratta, P; Marchioni, E; ... Moggio, M; + view all (2014) Novel CLN3 mutation causing autophagic vacuolar myopathy. Neurology 10.1212/WNL.0000000000000490.

Jacques, TS; Andersen, G; Hersheson, J; Burke, D; Clayton, R; Mills, P; ... Houlden, H; + view all (2014) Distinctive muscle pathology in patients with mutations in the Cathepsin D gene. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 16 - 17).

Mole, SE; (2014) Development of new treatments for Batten disease. Lancet Neurol 10.1016/S1474-4422(14)70151-6.

2013

Guerreiro, R; Bras, JT; Vieira, M; Warrier, V; Agrawal, S; Stewart, H; ... Mole, SE; + view all (2013) CLN6 disease caused by the same mutation originating in Pakistan has varying pathology. European Journal of Paediatric Neurology , 17 (6) pp. 657-660. 10.1016/j.ejpn.2013.04.011.

Mole, SE; Williams, RE; Cooper, JD; (2013) Special issue: Molecular basis of NCL. Biochim Biophys Acta 10.1016/j.bbadis.2013.05.025.

Smith, KR; Dahl, HH; Canafoglia, L; Andermann, E; Damiano, J; Morbin, M; ... Bahlo, M; + view all (2013) Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. Hum Mol Genet , 22 (7) 1417 - 1423. 10.1093/hmg/dds558.

Warrier, V; Vieira, M; Mole, SE; (2013) Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses. Biochim Biophys Acta , 1832 (11) 1827 - 1830. 10.1016/j.bbadis.2013.03.017.

2012

Bras, J; Verloes, A; Schneider, SA; Mole, SE; Guerreiro, RJ; (2012) Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Human Molecular Genetics , 21 (12) 2646 - 2650. 10.1093/hmg/dds089. Green and gold open access
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Kousi, M; Lehesjoki, AE; Mole, SE; (2012) Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. Hum Mutat , 33 (1) 42 - 63. 10.1002/humu.21624.

Smith, KR; Damiano, J; Franceschetti, S; Carpenter, S; Canafoglia, L; Morbin, M; ... Berkovic, SF; + view all (2012) Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. The American Journal of Human Genetics , 90 (6) 1102 - 1107. 10.1016/j.ajhg.2012.04.021. Green and gold open access
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Williams, RE; Mole, SE; (2012) New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. Neurology , 79 (2) 183 - 191. 10.1212/WNL.0b013e31825f0547.

2011

Mole, SE and Williams, RE and Goebel, HH (Eds). (2011) The Neuronal Ceroid Lipofuscinoses (Batten Disease). Contemporary Neurology Series. (2nd ed. ed.). Oxford University Press: Oxford, UK.

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. 10.1177/0883073810387298.

Arsov, T; Smith, KR; Damiano, J; Franceschetti, S; Canafoglia, L; Bromhead, CJ; ... Berkovic, SF; + view all (2011) Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6. AM J HUM GENET , 88 (5) 566 - 573. 10.1016/j.ajhg.2011.04.004.

Kohan, R; Cismondi, IA; Oller-Ramirez, AM; Guelbert, N; Anzolini, VT; Alonso, G; ... de Halac, IN; + view all (2011) Therapeutic Approaches to the Challenge of Neuronal Ceroid Lipofuscinoses. CURR PHARM BIOTECHNO , 12 (6) 867 - 883.

Lebrun, AH; Moll-Khosrawi, P; Pohl, S; Makrypidi, G; Storch, S; Kilian, D; ... Schulz, A; + view all (2011) Analysis of potential biomarkers and modifier genes affecting the clinical course of CLN3 disease. Mol Med , 17 (11-12) 1253 - 1261. 10.2119/molmed.2010.00241.

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 - 1349. 10.1039/c0mb00300j.

Noskova, L; Stranecky, V; Hartmannova, H; Pristoupilova, A; Baresova, V; Ivanek, R; ... Kmoch, S; + view all (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. 10.1016/j.ajhg.2011.07.003.

Pezzini, F; Gismondi, F; Tessa, A; Tonin, P; Carrozzo, R; Mole, SE; ... Simonati, A; + view all (2011) Involvement of the mitochondrial compartment in human NCL fibroblasts. Biochem Biophys Res Commun , 416 (1-2) 159 - 164. 10.1016/j.bbrc.2011.11.016.

2010

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. 10.1002/humu.21184.

Lebrun, AH; Moll-Kosrawi, P; Storch, S; Pohl, S; Kilian, D; Streichert, T; ... Schulz, A; + view all (2010) IDENTIFICATION OF POTENTIAL BIOMARKERS AND MODIFIERS OF CLN3 DISEASE. In: J INHERIT METAB DIS. (pp. S140 - S140). SPRINGER

Lebrun, AH; Storch, S; Pohl, S; Streichert, S; Mole, SE; Ullrich, K; ... Schulz, A; + view all (2010) Identification of Potential Biomarkers and Modifiers of CLN3-disease Progression. ANNALS OF NEUROLOGY , 68 (4) S114 - S115.

Mole, SE; Williams, RE; (2010) Neuronal Ceroid-Lipofuscinoses. [Digital scholarly resource].

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. 10.1039/b915670d.

Xin, W; Mullen, TE; Kiely, R; Min, J; Feng, X; Cao, Y; ... Sims, K; + view all (2010) CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL. NEUROLOGY , 74 (7) 565 - 571.

2009

Aiello, C; Terracciano, A; Simonati, A; Discepoli, G; Cannelli, N; Claps, D; ... Santorelli, FM; + view all (2009) Mutations in MFSD8/CLN7 Are a Frequent Cause of Variant-Late Infantile Neuronal Ceroid Lipofuscinosis. HUM MUTAT , 30 (3) E530 - E540. 10.1002/humu.20975.

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.

Cannelli, N; Garavaglia, B; Simonati, A; Aiello, C; Barzaghi, C; Pezzini, F; ... Santorelli, FM; + view all (2009) Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6. BIOCHEM BIOPH RES CO , 379 (4) 892 - 897. 10.1016/j.bbrc.2008.12.159.

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. 10.1242/jcs.038323. Gold open access

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. 10.1242/dmm.000851. Gold open access

Kousi, M; Siintola, E; Dvorakova, L; Vlaskova, H; Turnbull, J; Topcu, M; ... Lehesjoki, AE; + view all (2009) Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. BRAIN , 132 810 - 819. 10.1093/brain/awn366.

Lebrun, AH; Storch, S; Kyttalla, A; Mole, SE; Kohlschutter, A; Ullrich, K; ... Schulz, A; + view all (2009) Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship. EUR J PEDIATR , 168 (3) 378 - 378.

Lebrun, AH; Storch, S; Rueschendorf, F; Schmiedt, ML; Kyttaelae, A; Mole, SE; ... Schulz, A; + view all (2009) Retention of Lysosomal Protein CLN5 in the Endoplasmic Reticulum Causes Neuronal Ceroid Lipofuscinosis in Asian Sibship. HUM MUTAT , 30 (5) E651 - E661. 10.1002/humu.21010.

Mole, SE; Williams, RE; (2009) Neuronal ceroid lipofuscinosis (CLN1-10). In: Lang, F, (ed.) Encyclopedia of Molecular Mechanisms of Disease. Springer-Verlag: Heidelberg.

Schulz, A; Lebrun, AH; Storch, S; Franz, R; Schmiedt, ML; Kyttdlld, A; ... Braulke, T; + view all (2009) Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship. In: MOLECULAR GENETICS AND METABOLISM. (pp. S39 - S39). ACADEMIC PRESS INC ELSEVIER SCIENCE

2008

Cismondi, IA; Kohan, R; Guelbert, N; Anzolini, TV; Ghio, A; Mole, SE; ... de Halac, NI; + view all (2008) Morphologically targeted DNA screening of neuronal ceroid lipofuscinoses CLN5 and CLN6 in Argentina. J INHERIT METAB DIS , 31 129 - 129.

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. 10.1242/jcs.030122.

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. 10.1111/j.1600-0854.2008.00735.x. Gold open access

Kitzmuller, 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. HUM MOL GENET , 17 (2) 303 - 312. 10.1093/hmg/ddm306.

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 LETT , 582 (7) 1019 - 1024. 10.1016/j.febslet.2008.02.049.

2007

de Halac, IN; Cismondi, I; Kohan, R; de Kremer, RD; Guelbert, N; Muller, VJ; ... de Ramirez, AMO; + view all (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, AE; ... Braulke, T; + view all (2007) Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6. MOL MEMBR BIOL , 24 (1) 74 - 87. 10.1080/09687860600967317.

Mole, SE; (2007) ITN London Tonight. UNSPECIFIED

Noher de Halac, I; Cismondi, I; Kohan, R; Dodelson de Kremer, R; Guelbert, N; Muller, VJ; ... Oller de Ramirez, AM; + view all (2007) Characterization of neuronal ceroid lipofuscinosis in Argentina. In: (Proceedings) Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. (pp. 10 - 10).

Ramadan, H; Al-Din, AS; Ismail, A; Balen, F; Varma, A; Twomey, A; ... Mole, SE; + view all (2007) Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1. NEUROLOGY , 68 (5) 387 - 388.

Steinfeld, R; Mole, SE; Niezen-de Boer, R; Gartner, 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. J INHERIT METAB DIS , 30 93 - 93.

2006

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. 10.1016/j.jneumeth.2006.04.015.

Mole, SE; (2006) Neuronal ceroid lipofuscinoses (NCL). EUR J PAEDIATR NEURO , 10 (5-6) 255 - 257. 10.1016/j.ejpn.2006.08.009.

Mole, SE; Dawson, G; Jalanko, A; (2006) Special issue: Molecular basis of NCL. BBA-MOL BASIS DIS , 1762 (10) 849 - 849. 10.1016/j.bbadis.2006.10.005.

Phillips, SN; Muzaffar, N; Codlin, S; Korey, CA; Taschner, PEM; de Voer, G; ... Pearce, DA; + view all (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. 10.1016/j.bbadis.2006.08.010.

Poët, M; Kornak, U; Schweizer, M; Zdebik, AA; Scheel, O; Hoelter, S; ... Jentsch, TJ; + view all (2006) Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6. Proc Natl Acad Sci U S A , 103 (37) 13854 - 13859. 10.1073/pnas.0606137103.

Poet, M; Kornak, U; Schweizer, M; Zdebik, AA; Scheel, O; Hoelter, S; ... Jentsch, TJ; + view all (2006) Lysosomal storage disease upon disruption of the neuronal chloride transport protein CIC-6. P NATL ACAD SCI USA , 103 (37) 13854 - 13859. 10.1073/pnas.06061347103.

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. In: EUROPEAN JOURNAL OF CELL BIOLOGY. (pp. 40 - 40). ELSEVIER GMBH, URBAN & FISCHER VERLAG

Siintola, E; Lehesjoki, AE; Mole, SE; (2006) Molecular genetics of the NCLs - status and perspectives. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE , 1762 (10) 857 - 864. 10.1016/j.bbadis.2006.05.006.

Tang, C.-H.; Lee, J.-W.; Galvez, M.G.; Robillard, L.; Mole, S.E.; Chapman, H.A.; (2006) Murine cathepsin F deficiency causes neuronal lipofuscinosis and late-onset neurological disease. Molecular and Cellular Biology , 26 (6) pp. 2309-2316. 10.1128/MCB.26.6.2309-2316.2006.

Tang, CH; Lee, JW; Galvez, MG; Robillard, L; Mole, SE; Chapman, HA; (2006) Murine cathepsin F deficiency causes neuronal lipofuscinosis and late-onset neurological disease. MOL CELL BIOL , 26 (6) 2309 - 2316. 10.1128/MCB.26.6.2309-2316.2006.

2005

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. 10.1242/jcs.02656.

Gachet, Y.; Codlin, S.; Hyams, J.S.; Mole, S.E.; (2005) btn1, the schizosaccharomyces pombe homologue of the human batten disease gene CLN3, regulates vacuole homeostasis. Journal of Cell Science , 118 (23) pp. 5525-5536. 10.1242/jcs.02656.

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. 10.1007/s10048-005-0218-3.

Pineda-Trujillo, N; Cornejo, W; Carrizosa, J; Wheeler, RB; Munera, S; Valencia, A; ... Ruiz-Linares, A; + view all (2005) A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset. NEUROLOGY , 64 (4) 740 - 742.

Porter, MY; Turmaine, M; Mole, SE; (2005) Identification and characterization of Caenorhabditis elegans palmitoyl protein thioesterase1. J NEUROSCI RES , 79 (6) 836 - 848. 10.1002/jnr.20403.

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. In: JOURNAL OF MOLECULAR DIAGNOSTICS. (pp. 654 - 654). AMER SOC INVESTIGATIVE PATHOLOGY, INC

2004

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. In: Revue Neurologique. (pp. 294 - ?).

Mole, S; (2004) Neuronal ceroid lipofuscinoses (NCL). Eur J Paediatr Neurol , 8 (2) 101 - 103.

Mole, SE; (2004) The genetic spectrum of human neuronal ceroid-lipofuscinoses. BRAIN PATHOL , 14 (1) 70 - 76.

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. 10.1016/j.yexcr.2004.04.042.

Mole, SE; Sharp, JD; Wheeler, RB; Gardiner, RM; Williams, RE; Cutler, D; (2004) Molecular genetics and biology of CLN6. In: Revue Neurologique. (pp. 293 - 294).

Ranta, S; Topcu, M; Tegelberg, S; Tan, H; Ustubutun, A; Saatci, I; ... Lehesjoki, AE; + view all (2004) Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to northern epilepsy. HUM MUTAT , 23 (4) 300 - 305. 10.1002/humu.20018.

Tyynela, J; Autti, T; Haltia, A; Mole, SE; (2004) Pirkko Santavuori (1933-2004). J CHILD NEUROL , 19 (6) 465 - 470.

2003

Sharp, JD; Wheeler, RB; Parker, KA; Gardiner, RM; Williams, RE; Mole, SE; (2003) Spectrum of CLN6 mutations in variant late infantile neuronal cerolid lipofuscinosis. HUM MUTAT , 22 (1) 35 - 42. 10.1002/humu.10227.

2002

Mole, S; (2002) Gene table: neuronal ceroid lipofuscinoses. Eur J Paediatr Neurol , 6 (2) 129 - 130. 10.1053/ejpn.2002.0560.

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. AM J HUM GENET , 70 (2) 537 - 542.

2001

Leung, KY; Greene, ND; Munroe, PB; Mole, SE; (2001) Analysis of CLN3-protein interactions using the yeast two-hybrid system. Eur J Paediatr Neurol , 5 Suppl A 89 - 93. 10.1053/ejpn.2001.0472.

Leung, KY; Greene, NDE; Munroe, PB; Mole, SE; (2001) Identification of a transactivation motif in the CLN3 protein. IUBMB LIFE , 51 (5) 295 - 298.

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.

Mitchell, WA; Wheeler, RB; Sharp, JD; Bate, SL; Gardiner, RM; Ranta, US; ... Mole, SE; + view all (2001) Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8. Eur J Paediatr Neurol , 5 Suppl A 21 - 27.

Mitchison, HM; Mole, SE; (2001) Neurodegenerative disease: the neuronal ceroid lipofuscinoses (Batten disease). CURR OPIN NEUROL , 14 (6) 795 - 803.

Mole, S; (2001) Neuronal ceroid lipofuscinoses. Eur J Paediatr Neurol , 5 (5) 211 - 212. 10.1053/ejpn.2001.0514.

Mole, SE; Zhong, NA; Sarpong, A; Logan, WP; Hofmann, S; Yi, W; ... Taschner, PE; + view all (2001) New mutations in the neuronal ceroid lipofuscinosis genes. Eur J Paediatr Neurol , 5 Suppl A 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. Eur J Paediatr Neurol , 5 Suppl A 29 - 31.

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.

2000

Eksandh, LB; Ponjavic, VB; Munroe, PB; Eiberg, HE; Uvebrant, PE; Ehinger, BE; ... Andréasson, S; + view all (2000) Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene. Ophthalmic Genet , 21 (2) 69 - 77.

Wheeler, RB; Sharp, JD; Schultz, RA; Joslin, D; Lake, BD; Mole, SE; ... Gardiner, RM; + view all (2000) Gene identification on chromosome 15q21-23 in a 200 Kb region spanning the CLN6 disease locus. In: AM J HUM GENET. (pp. 177 - 177). UNIV CHICAGO PRESS

1999

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.

Goebel, HH; Mole, SE; Lake, BD; (1999) The neuronal ceroid lipofuscinoses (Batten disease). Ios Pr Inc

Greene, NDE; Bernard, DJ; Taschner, PEM; de Vos, N; Breuning, MH; Gardiner, RM; ... Mitchison, HM; + view all (1999) Mice with a targeted disruption of the Batten disease gene (CLN3) display a progressive storage disorder. In: Genetical Research. (pp. 104 - 104).

Greene, NDE; Bernard, DL; Taschner, PEM; Lake, BD; de Vos, N; Breuning, MH; ... Mitchison, HM; + view all (1999) A murine model for juvenile NCL: Gene targeting of mouse CLn3 (vol 66, pg 309, 1999). MOL GENET METAB , 67 (4) 368 - 368.

Greene, NDE; Bernard, DL; Taschner, PEM; Lake, BD; de Vos, N; Breuning, MH; ... Mitchison, HM; + view all (1999) A murine model for juvenile NCL: Gene targeting of mouse Cln3. MOLECULAR GENETICS AND METABOLISM , 66 (4) 309 - 313.

Lauronen, L; Munroe, PB; Jarvela, I; Autti, T; Mitchison, HM; O'Rawe, AM; ... Santavuori, P; + view all (1999) Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis. NEUROLOGY , 52 (2) 360 - 365.

Leung, KY; Greene, ND; Munroe, PB; Gardiner, RM; Mole, S; (1999) Analysis of the structure and function of the Batten disease protein, CLN3. In: Protein Science. (pp. 89 - ?).

Mitchell, W; Bate, SL; Wheeler, RB; Sharp, JD; Sattar, A; Lake, BD; ... Mole, SE; + view all (1999) Homozygosity mapping of a new variant late infantile NCL (Turkish variant, CLN7). In: European Journal of Human Genetics. (pp. 134 - 134).

Mole, S; (1999) Neuronal ceroid lipofuscinoses. Eur J Paediatr Neurol , 3 (1) 43 - 44. 10.1053/ejpn.1999.0179.

Mole, S; Gardiner, M; (1999) Molecular genetics of the neuronal ceroid lipofuscinoses. EPILEPSIA , 40 29 - 32.

Mole, SE; (1999) Batten's disease: eight genes and still counting? LANCET , 354 (9177) 443 - 445.

Mole, SE; Mitchison, HM; Munroe, PB; (1999) Molecular basis of the neuronal ceroid lipofuscinoses: Mutations in CLN1, CLN2, CLN3, and CLN5. HUM MUTAT , 14 (3) 199 - 215.

Ranta, S; Zhang, Y; Lonka, L; Messer, A; Mole, S; Wheeler, R; ... Lehesjoki, AE; + view all (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.

Ranta, S; Zhang, Y; Lonka, L; Messer, A; Mole, S; Wheeler, R; ... Lehesjoki, AE; + view all (1999) Neuronal ceroid lipofuscinosis: A novel gene (CLN8) is mutated in human progressive epilepsy with mental retardation and the motor neuron degeneration mouse model. In: American Journal of Human Genetics. (pp. A5 - ?).

Ranta, S; Zhang, YH; Ross, B; Lonka, L; Takkunen, E; Messer, A; ... Lehesjoki, AE; + view all (1999) The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. NAT GENET , 23 (2) 233 - 236.

Sharp, JD; Wheeler, RB; Schultz, RA; Joslin, JM; Lake, BD; Fox, M; ... Gardiner, RM; + view all (1999) Physical and transcript mapping of the CLN6 critcal region on chromosome 15q22-23. AM J HUM GENET , 65 (4) A419 - A419.

Stephenson, JBP; Greene, NDE; Leung, KY; Munroe, PB; Mole, SE; Gardiner, RM; ... Mitchison, HM; + view all (1999) The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland. MOLECULAR GENETICS AND METABOLISM , 66 (4) 245 - 247.

1998

Greene, NDE; Bernard, DL; Mole, SE; Gardiner, RM; Nussbaum, RL; Mitchison, HM; ... Breuning, MH; + view all (1998) Progress towards development of mouse models for JNCL. In: Eur J Paediatr Neurology. (pp. A12 - ?).

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.

Leung, K; Greene, NDE; Munroe, PB; Gardiner, RM; Mole, SE; (1998) Fishing for interaction with the CLN3 protein. In: Eur J Paediatr Neurology. (pp. A10 - ?).

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.

Mitchison, HM; Bernard, DL; Greene, NDE; Taschner, PEM; de Vos, N; Breuning, MH; ... Nussbaum, RL; + view all (1998) Mice with a targeted disruption of the Batten disease gene (CLN3) display a progressive storage disorder. In: Am J Hum Genet. (pp. A15 - ?).

Mitchison, HM; Hofmann, SL; Becerra, CHR; Munroe, PB; Lake, BD; Crow, YJ; ... O'Rawe, AM; + view all (1998) Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. HUM MOL GENET , 7 (2) 291 - 297.

Mitchison, HN; Hofmann, SL; Becerra, CHR; Munroe, PB; Lake, BD; Crow, YJ; ... O'Rawe, AM; + view all (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. NEUROBIOL DIS , 5 (5) 287 - 303.

Mole, SE; (1998) Physical mapping of the short arm of human chromosome 16. In: Hallen, M, (ed.) Biomedical and Health Research. (129 - 149). IOS Press: Amsterdam.

Mole, SE; (1998) Westcountry TV Ltd. UNSPECIFIED

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, KY; Mole, SE; Gardiner, RM; Mitchison, HM; ... Crow, YJ; + view all (1998) Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland. J MED GENET , 35 (9) 790 - 790.

Munroe, PB; Mitchison, HM; O'Rawe, AM; Anderson, JW; Boustany, RN; Lerner, TJ; ... Mole, SE; + view all (1998) Mutational analysis of the CLN3 gene. In: Eur J Paediatr Neurology. (pp. A9 - ?).

Taschner, PEM; de Vos, N; Breuning, MH; Mitchison, HM; Greene, NDE; Gardiner, RM; ... Nussbaum, RL; + view all (1998) Development of a CLN3 knock-out mouse model for Batten disease. In: Eur J Paediatr Neurology. (pp. A11 - ?).

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). In: Eur J Paediatr Neurology. (pp. A11 - ?).

1997

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. In: AM J HUM GENET. (pp. A341 - A341). UNIV CHICAGO PRESS

Mitchison, HM; Munroe, PB; ORawe, AM; Taschner, PEM; DeVos, N; Kremmidiotis, G; ... Mole, SE; + view all (1997) Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3. GENOMICS , 40 (2) 346 - 350.

Mitchison, HM; Taschner, PEM; Kremmidiotis, G; Callen, DF; Doggett, NA; Lerner, TJ; ... Mole, SE; + view all (1997) Structure of the CLN3 gene and predicted structure, location and function of CLN3 protein. NEUROPEDIATRICS , 28 (1) 12 - 14.

Mole, S; (1997) Gene table: neuronal ceroid lipofuscinoses (NCL). Eur J Paediatr Neurol , 1 (5-6) 187 - ?.

Munroe, PB; Mitchison, HM; ORawe, AM; Anderson, JW; Boustany, RM; Lerner, TJ; ... Mole, SE; + view all (1997) Spectrum of mutations in the Batten disease gene, CLN3. AM J HUM GENET , 61 (2) 310 - 316.

Munroe, PB; ORawe, AM; Mitchison, HM; Jarvela, IE; Santavuori, P; Lerner, TJ; ... Mole, SE; + view all (1997) Strategy for mutation detection in CLN3: Characterisation of two Finnish mutations. NEUROPEDIATRICS , 28 (1) 15 - 17.

ORawe, A; Mitchison, HM; Williams, R; Wheeler, R; Andermann, E; Andermann, F; ... Mole, SE; + view all (1997) Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits. NEUROPEDIATRICS , 28 (1) 21 - 22.

1996

Altherr, MR; Auerbach, AD; Biggs, PO; Burn, TC; Breuning, MH; Peters, DJM; ... Sood, R; + view all (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.

Janes, RW; Munroe, PB; Mitchison, HM; Gardiner, RM; Mole, SE; Wallace, BA; (1996) A model for Batten disease protein CLN3: Functional implications from homology and mutations. FEBS LETT , 399 (1-2) 75 - 77.

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.

Jarvela, I; Mitchison, HM; Munroe, PB; ORawe, AM; Mole, SE; Syvanen, AC; (1996) Rapid diagnostic test for the major mutation underlying Batten disease. J MED GENET , 33 (12) 1041 - 1042.

Mole, SE; (1996) Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses. J INHERIT METAB DIS , 19 (3) 269 - 274.

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. LANCET , 347 (9007) 1014 - 1015.

1995

DOOLEY, TP; PROBST, P; OBERMOELLER, RD; SICILIANO, MJ; DOGGETT, NA; CALLEN, DF; ... MOLE, SE; + view all (1995) PHENOL SULFOTRANSFERASES - CANDIDATE GENES FOR BATTEN-DISEASE. AMERICAN JOURNAL OF MEDICAL GENETICS , 57 (2) 327 - 332.

JARVELA, IE; MITCHISON, HM; CALLEN, DF; LERNER, TJ; DOGGETT, NA; TASCHNER, PEM; ... MOLE, SE; + view all (1995) PHYSICAL MAP OF THE REGION CONTAINING THE GENE FOR BATTEN-DISEASE (CLN3). AMERICAN JOURNAL OF MEDICAL GENETICS , 57 (2) 316 - 319.

JARVELA, IE; MITCHISON, HM; GARDINER, RM; CALLEN, DF; BREUNING, MH; LEMER, TJ; ... DOOLEY, TP; + view all (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.

JARVELA, IE; MITCHISON, HM; ORAWE, AM; MUNROE, PB; TASCHNER, PEM; DEVOS, N; ... MOLE, SE; + view all (1995) YAC AND COSMID CONTIGS SPANNING THE BATTEN-DISEASE (CLN3) REGION AT 16P12.1-P11.2. GENOMICS , 29 (2) 478 - 489.

LERNER, TJ; BOUSTANY, RMN; ANDERSON, JW; DARIGO, KL; SCHLUMPF, K; BUCKLER, AJ; ... MOLE, SE; + view all (1995) ISOLATION OF A NOVEL GENE UNDERLYING BATTEN-DISEASE, CLN3. CELL , 82 (6) 949 - 957.

LERNER, TJ; KREMMIDIOTIS, G; BOUSTANY, RMN; ANDERSON, JW; DARIGO, KL; BUCKLER, AJ; ... HAINES, JL; + view all (1995) BATTEN-DISEASE .1. ISOLATION OF A CANDIDATE GENE FOR CLN3. AM J HUM GENET , 57 (4) 23 - 23.

MITCHISON, HM; MUNROE, PB; ORAWE, AM; TASCHNER, PEM; KREMMIDIOTIS, G; LENSINK, I; ... MOLE, SE; + view all (1995) BATTEN-DISEASE .3. GENOMIC STRUCTURE OF A CANDIDATE FOR CLN3. AM J HUM GENET , 57 (4) 836 - 836.

MITCHISON, HM; ORAWE, AM; LERNER, TJ; TASCHNER, PEM; SCHLUMPF, K; DARIGO, K; ... MOLE, SE; + view all (1995) REFINED LOCALIZATION 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 , 57 (2) 312 - 315.

MITCHISON, HM; ORAWE, AM; TASCHNER, PEM; SANDKUIJL, LA; SANTAVUORI, P; DEVOS, N; ... JARVELA, IE; + view all (1995) BATTEN-DISEASE GENE, CLN3 - LINKAGE DISEQUILIBRIUM MAPPING IN THE FINNISH POPULATION, AND ANALYSIS OF EUROPEAN HAPLOTYPES. AM J HUM GENET , 56 (3) 654 - 662.

Mole, SE; (1995) BBC News Room Southeast. UNSPECIFIED

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 , 57 (2) 324 - 326.

TASCHNER, PEM; DEVOS, N; THOMPSON, AD; CALLEN, DF; DOGGETT, N; MOLE, SE; ... BREUNING, MH; + view all (1995) CHROMOSOME-16 MICRODELETION IN A PATIENT WITH JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS (BATTEN-DISEASE). AM J HUM GENET , 56 (3) 663 - 668.

TASCHNER, PEM; MITCHISON, HM; KREMMIDIOTIS, G; ORAWE, A; MUNROE, PB; DEVOS, N; ... BREUNING, MH; + view all (1995) BATTEN-DISEASE .2. GENOMIC ALTERATIONS IN CLN3. AM J HUM GENET , 57 (4) 1328 - 1328.

1994

DOOLEY, TP; MITCHISON, HM; MUNROE, PB; PROBST, P; NEAL, M; SICILIANO, MJ; ... MOLE, SE; + view all (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; ... LERNER, TJ; + view all (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: UNSPECIFIED (277 - 287).

TUNNACLIFFE, A; JACKSON, MS; GARDNER, E; LOVE, DR; MOORE, JK; MOLE, SE; ... PONDER, BAJ; + view all (1994) A MULTIPLE INTERVAL PHYSICAL MAP OF THE PERICENTROMERIC REGION OF HUMAN-CHROMOSOME-10. HUM GENET , 93 (3) 313 - 318.

1993

GARDNER, E; PAPI, L; EASTON, DF; CUMMINGS, T; JACKSON, CE; KAPLAN, M; ... PONDER, BAJ; + view all (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.

KOLBLE, K; LU, JH; 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 (2) 294 - 298.

MITCHISON, HM; ORAWE, AM; THOMPSON, AD; KNIGHT, M; CALLEN, DF; DOGGETT, NA; ... MOLE, SE; + view all (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.

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. 10.1006/geno.1993.1090.

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.

Mole, SE; Mulligan, LM; (1993) Strategies for isolating genes in hereditary and sporadic tumors. In: Levine, AJ and Schmidek, HH, (eds.) Molecular genetics of nervous system tumors. (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; ... PONDER, BAJ; + view all (1993) GERM-LINE MUTATIONS OF THE RET PROTOONCOGENE IN MULTIPLE ENDOCRINE NEOPLASIA TYPE-2A. NATURE , 363 (6428) 458 - 460.

1992

Decker, RA; Ponder, BA; Mole, SE; Weber, JL; (1992) Dinucleotide repeat polymorphisms at the D10S183 and D10S245 loci. Hum Mol Genet , 1 (9) 777 - ?.

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. Gold open access

Mole, SE; (1992) Epitope mapping. In: UNSPECIFIED (105 - 116).

Mole, SE; (1992) Epitope mapping. Methods Mol Biol , 10 105 - 116. 10.1385/0-89603-204-3:105.

1991

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.

Mole, SE; Gardiner, M; (1991) Molecular genetic analysis of neuronal ceroid lipofuscinosis. Int J Neurol , 25-26 52 - 59.

MOLE, SE; TUNNACLIFFE, A; MULLIGAN, LM; CERVINI, R; FINOCCHIARO, G; THIESEN, HJ; ... PONDER, BAJ; + view all (1991) THE GENERATION AND PHYSICAL MAPPING OF MARKERS ON CHROMOSOME-10. CYTOGENET CELL GENET , 58 (3-4) 1951 - 1951.

MULLIGAN, LM; GARDNER, E; JONES, C; MOLE, SE; MOORE, J; NAKAMURA, Y; ... PONDER, BAJ; + view all (1991) CLINICAL AND MOLECULAR-GENETICS OF MULTIPLE ENDOCRINE NEOPLASIA TYPE-2A (MEN-2A). In: CALMETTES, C and GULIANA, JM, (eds.) UNSPECIFIED (137 - 143). INSERM / JOHN LIBBEY EUROTEXT

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.

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 Researc , 17 (8) 3319 - 3319. 10.1093/nar/17.8.3319. Green and gold open access
file

1987

MOLE, SE; GANNON, JV; FORD, MJ; LANE, DP; (1987) STRUCTURE AND FUNCTION OF SV40 LARGE-T ANTIGEN. In: UNSPECIFIED (455 - 469). ROYAL SOC LONDON

MOLE, SE; LANE, DP; (1987) PSEMCATR1 - A PROKARYOTIC-EUKARYOTIC SHUTTLE VECTOR COMPATIBLE WITH PUR AND LAMBDA-GT11 EXPRESSION SYSTEMS. NUCLEIC ACIDS RES , 15 (21) 9090 - 9090. Gold open access

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. (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 and Cook, GMW and Morre, DJ, (eds.) Investigations and exploitation of antibody combining sites. (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: UNSPECIFIED (25 - 42). ROYAL SOC LONDON

MOLE, SE; LANE, DP; (1985) USE OF SIMIAN VIRUS-40 LARGE T-BETA-GALACTOSIDASE FUSION PROTEINS IN AN IMMUNOCHEMICAL ANALYSIS OF SIMIAN VIRUS-40 LARGE T-ANTIGEN. J VIROL , 54 (3) 703 - 710.

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