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Audioslide presentation on Claudia Manzoni's paper examining how fibroblasts with LRRK2 mutations react to starvation conditions and the possible deficits that they have in autophagy.

LRRK2 and autophagy in fibroblasts

In this paper Claudia Manzoni studies how fibroblast cells from people with Parkinson’s disease caused by mutations in LRRK2 react to starvation. Although the changes are quite subtle, there are differences between the way that fibroblasts that contain mutant LRRK2 respond to being starved – suggesting that there may be changes in the way that these cells regulate a key process called autophagy (a term which comes from the greek meaning to eat yourself, and is one of the ways that cells get rid of waste and recycle proteins and organellles).
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Drosophila fly model - University of Sheffield

Genetic mutations linked to Parkinson's disease

Research led by consortium researchers Dr Helene Plun-Favreau (UCL Institute of Neurology) and Dr Alex Whitworth (University of Sheffield), and collaborator Dr Heike Laman (University of Cambridge), has discovered how genetic mutations linked to Parkinson’s disease might play a key role in the death of brain cells, potentially paving the way for the development of more effective drug treatments. In the new study, published in Nature Neuroscience, the team of cross-institutional researchers showed how defects in the Parkinson’s gene Fbxo7 cause problems with mitophagy. More...

Autophagy

LRRK2 and autophagy

Mutations in LRRK2 are the most common genetic cause of Parkinson’s disease. Here, Claudia Manzoni talks about her research (funded by the Rosetrees Trust and the Michael J. Fox Foundation) into what LRRK2 might be doing within the cell: Parkinson’s disease is a brain illness that afflicts 1 in 500 people in the UK. High profile patients, such as the actor Michael J Fox, the boxer Muhammad Ali and the late Pope John Paul II, have raised public awareness of Parkinson’s and its devastating impact. More...

GBA neurons

GBA and mitochondria

Dr Laura Osellame tells us about her recent paper in Cell Metabolism about Mitochondrial dysfunction linked to loss of an enzyme called GBA: Gaucher Disease (GD) is a rare inherited disease, belonging to the family of lysosomal storage disorders. Mutations in the gene glucocerebrosidase (GBA) are responsible for the disease and can increase susceptibility to Parkinson’s disease (PD). Genetic studies undertaken at UCL and other hospitals around the world suggest that mutations in GBA are the most common genetic risk factor currently known for PD. More...

Image of alpha-synuclein

Alpha-synuclein in LRRK2 brains

First author Adamantios Mamais tells us about his recent publication in Neurobiology of Disease: At the Queen Square Brain Bank (part of the UCL Institute of Neurology) we hold a large collection of post-mortem human brain tissue from patients with neurodegenerative diseases including Parkinson’s disease (PD); a debilitating neurological disorder that affects the central nervous system. In the United States alone about 50,000 new cases are reported every year. The main symptoms include tremor, slow movement, rigid limbs and a shuffling gait while these worsen with time. More...

Christos Proukakis

(Senior Lecturer and Honorary Consultant Neurologist)

I am interested in the genetic causes and molecular and cellular pathways of neurodegeneration, particularly hereditary spastic paraplegia and Parkinson's disease. I am especially interested in the unexplored possibility of somatic mutations leading to neurodegeneration.

Methods I use are antibody assays, Cell culture, Confocal microscopy, Gene expression profiling - tissue level, Genomic analyses, Genetic screens, Linkage, mapping and positional cloning, Protein transport/localisation.


Contact details

Lab website


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Jump to: 2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2005 | 2004 | 2003 | 2002 | 2001 | 1994
Number of items: 48.

2014

Proukakis, C; (2014) Genetics of Parkinson's disease: alpha-synuclein and other insights from Greece. Eur J Neurol 10.1111/ene.12357.

2013

Harlalka, GV; Lehman, A; Chioza, B; Baple, EL; Maroofian, R; Cross, H; ... Crosby, AH; + view all (2013) Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis. Brain 10.1093/brain/awt270.

Kara, E; Lewis, PA; Ling, H; Proukakis, C; Houlden, H; Hardy, J; (2013) α-Synuclein mutations cluster around a putative protein loop. Neurosci Lett , 546 67 - 70. 10.1016/j.neulet.2013.04.058.

Kiely, AP; Asi, YT; Kara, E; Limousin, P; Ling, H; Lewis, P; ... Holton, JL; + view all (2013) α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy? Acta Neuropathologica , 125 (5) 753 - 769. 10.1007/s00401-013-1096-7. Green and gold open access
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Kiely, AP; Asi, YT; Kara, E; Limousin, P; Ling, H; Lewis, P; ... Holton, JL; + view all (2013) Synucleinopathy with a G51D a-synuclein mutation: a neuropathological and genetic study. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 39 - 40).

Nageshwaran, S; Hou, M; Ejaz, A; Toescu, S; Proukakis, C; (2013) An audit of inpatient Parkinson's disease management at barnet and chase farm hospitals. J Neurol Neurosurg Psychiatry , 84 (11) e2 - ?. 10.1136/jnnp-2013-306573.59.

Proukakis, C; Dudzik, CG; Brier, T; MacKay, DS; Cooper, JM; Millhauser, GL; ... Schapira, AH; + view all (2013) A novel α-synuclein missense mutation in Parkinson disease. Neurology , 80 (11) 1062 - 1064. 10.1212/WNL.0b013e31828727ba.

Proukakis, C; Houlden, H; Schapira, AH; (2013) Somatic alpha-synuclein mutations in Parkinson's disease: Hypothesis and preliminary data. Movement Disorders 10.1002/mds.25502. Green and gold open access
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2012

McNeill, A; Duran, R; Proukakis, C; Bras, J; Hughes, D; Mehta, A; ... Schapira, AH; + view all (2012) Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Mov Disord , 27 (4) 526 - 532. 10.1002/mds.24945.

Proukakis, C; Moore, D; Labrum, R; Wood, NW; Houlden, H; (2012) HEREDITARY SPASTIC PARAPLEGIA CAUSED BY SPASTIN (SPAST, SPG4) MUTATIONS IS FOUND MORE OFTEN IN MALES: REPORT OF NOVEL MUTATIONS FROM ONE CENTRE, AND REVIEW OF PUBLISHED LITERATURE. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY.

2011

Proukakis, C; Moore, D; Labrum, R; Wood, NW; Houlden, H; (2011) Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males. J NEUROL SCI , 306 (1-2) 62 - 65. 10.1016/j.jns.2011.03.043.

2010

Crosby, AH; Patel, H; Chioza, BA; Proukakis, C; Gurtz, K; Patton, MA; ... Lightowlers, RN; + view all (2010) Defective Mitochondrial mRNA Maturation Is Associated with Spastic Ataxia. AM J HUM GENET , 87 (5) 655 - 660. 10.1016/j.ajhg.2010.09.013.

Dick, KJ; Eckhardt, M; Paisan-Ruiz, C; Alshehhi, AA; Proukakis, C; Sibtain, NA; ... Crosby, AH; + view all (2010) Mutation of FA2H Underlies a Complicated Form of Hereditary Spastic Paraplegia (SPG35). HUM MUTAT , 31 (4) E1251 - E1260. 10.1002/humu.21205.

2009

Proukakis, C; Moore, D; Labrum, R; Wood, NW; Houlden, H; (2009) A clinical and genetic study of hereditary spastic paraplegia caused by SPAST/SPG4 mutations, including 12 new mutations. In: EUROPEAN JOURNAL OF NEUROLOGY. (pp. 296 - 296). WILEY-BLACKWELL PUBLISHING, INC

Smith, BN; Bevan, S; Vance, C; Renwick, P; Wilkinson, P; Proukakis, C; ... Shaw, CE; + view all (2009) Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype. CLIN GENET , 75 (5) 485 - 489. 10.1111/j.1399-0004.2009.01184.x.

2008

Proukakis, C; Bonakis, A; Salman, AM; Kalfakis, N; Papageorgiou, SG; (2008) Exit, pursued by a bear. LANCET , 372 (9634) 262 - 262.

Salinas, S; Proukakis, C; Crosby, A; Warner, TT; (2008) Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. LANCET NEUROL , 7 (12) 1127 - 1138.

2007

Salinas, S; Carazo-Salas, RE; Proukakis, C; Schiavo, G; Warner, TT; (2007) Spastin and microtubules: Functions in health and disease. JOURNAL OF NEUROSCIENCE RESEARCH , 85 (12) 2778 - 2782. 10.1002/jnr.21238.

2005

Priestman, DA; Neville, DCA; Reinkensmeier, G; Simpson, MA; Proukakis, C; Patten, M; ... Crosby, AH; + view all (2005) Human GM3 synthase deficiency: A novel form of hereditary childhood epilepsy. In: GLYCOBIOLOGY. (pp. 1192 - 1192). OXFORD UNIV PRESS INC

Proukakis, C; Bonakis, A; Papageorgiou, S; Kalfakis, N; (2005) Multiple system atrophy presenting with stridor. EUR J NEUROL , 12 106 - 107.

Proukakis, C; Cooper, JM; Taanman, JW; Warner, TT; (2005) Cellular studies of spastin reveal no gain of function, and suggest translation from the 2nd ATG. EUR J NEUROL , 12 323 - 323.

Salinas, S; Carazo-Salas, RE; Proukakis, C; Cooper, JM; Weston, AE; Schiavo, G; Warner, TT; (2005) Human spastin has multiple microtubule-related functions. J NEUROCHEM , 95 (5) 1411 - 1420. 10.1111/j.1471-4159.2005.03472.x.

Wiznitzer, M; Wang, H; Proukakis, C; Cross, H; Maxwell, K; Gurtz, K; Crosby, A; (2005) GM3 synthase deficiency: A disorder of ganglioside biosynthesis presenting as an infantile epilepsy. In: ANNALS OF NEUROLOGY. (pp. S102 - S102). WILEY-LISS

2004

Priestman, DA; Neville, DCA; Reinkensmeier, G; Simpson, MA; Proukakis, C; Patton, MA; ... Crosby, AH; + view all (2004) Human GM3 synthase deficiency: Autosomal recessive infantile onset symptomatic epilepsy syndrome. In: GLYCOBIOLOGY. (pp. 1179 - 1179). OXFORD UNIV PRESS INC

Proukakis, C; Cross, H; Patel, H; Patton, MA; Valentine, A; Crosby, AH; (2004) Troyer syndrome revisited - A clinical and radiological study of a complicated hereditary spastic paraplegia. J NEUROL , 251 (9) 1105 - 1110. 10.1007/s00415-004-0491-3.

Proukakis, C; Taanman, JW; Cooper, JM; Warner, TT; (2004) Cellular studies of spastin, the protein commonly mutated in autosomal dominant hereditary spastic paraplegia (SPG4). In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. (pp. 521 - 521). B M J PUBLISHING GROUP

Simpson, MA; Cross, H; Proukakis, C; Priestman, DA; Neville, DCA; Reinkensmeier, G; ... Crosby, AH; + view all (2004) Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. NAT GENET , 36 (11) 1225 - 1229. 10.1038/ng1460.

Warner, TT; Patel, H; Proukakis, C; Reed, JA; McKie, L; Wills, A; ... Crosby, AH; + view all (2004) A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia. J NEUROL , 251 (9) 1068 - 1074. 10.1007/s00415-004-0401-8.

Windpassinger, C; Auer-Grumbach, M; Irobi, J; Patel, H; Petek, E; Horl, G; ... Wagner, K; + view all (2004) Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. NAT GENET , 36 (3) 271 - 276. 10.1038/ng1313.

Windpassinger, C.; Auer-Grumbach, M.; Irobi, J.; Patel, H.; Petek, E.; Hörl, G.; ... Wagner, K.; + view all (2004) Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nature Genetics , 36 (3) pp. 271-276. 10.1038/ng1313.

2003

Ahmad-Annuar, A; Shah, P; Hafezparast, M; Hummerich, H; Witherden, AS; Morrison, KE; ... Fisher, EMC; + view all (2003) No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disorders. AMYOTROPH LATERAL SC , 4 (3) 150 - 157.

Ciccarelli, FD; Proukakis, C; Patel, H; Cross, H; Azam, S; Patton, MA; ... Crosby, AH; + view all (2003) The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia. GENOMICS , 81 (4) 437 - 441. 10.1016/S0888-7543(03)00011-9.

Crosby, AH; Proukakis, C; Simpson, M; Patton, MA; Cross, H; (2003) A clinical study of Mast syndrome, an autosomal recessive form of hereditary spastic paraplegia with dementia. In: AMERICAN JOURNAL OF HUMAN GENETICS. (pp. 264 - 264). UNIV CHICAGO PRESS

Proukakis, C; Auer-Grumbach, M; Wagner, K; Wilkinson, PA; Reid, E; Patton, MA; ... Crosby, AH; + view all (2003) Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene. Hum Mutat , 21 (2) 170 - ?. 10.1002/humu.9108.

Proukakis, C; Crosby, AH; Auer-Grumbach, M; Wagner, K; Reid, E; Patton, MA; Warner, TT; (2003) Screening of the spastin gene in autosomal dominant hereditary spastic paraplegia reveals seven novel mutations. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. (pp. 406 - 407). BRITISH MED JOURNAL PUBL GROUP

Proukakis, C; Simpson, M; Pryde, A; Patton, MA; Cross, H; Crosby, AH; (2003) Mapping of a novel form of infantile onset epilepsy syndrome to chromosome 2p. In: AMERICAN JOURNAL OF HUMAN GENETICS. (pp. 470 - 470). UNIV CHICAGO PRESS

Simpson, M; Proukakis, C; Cross, H; Patton, MA; Crosby, AH; (2003) Maspardin is mutated in Mast syndrome, a form of hereditary spastic paraplegia associated with dementia. In: AMERICAN JOURNAL OF HUMAN GENETICS. (pp. 179 - 179). UNIV CHICAGO PRESS

Simpson, MA; Cross, H; Proukakis, C; Pryde, A; Hershberger, R; Chatonnet, A; ... Crosby, AH; + view all (2003) Maspardin is mutated in Mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. AM J HUM GENET , 73 (5) 1147 - 1156.

2002

Crosby, AH; Patel, H; Patton, MA; Proukakis, C; Cross, H; (2002) Spartin, the Troyer syndrome gene, suggests defective endosomal trafficking underlies some forms of hereditary spastic paraplegia. In: AMERICAN JOURNAL OF HUMAN GENETICS. (pp. 516 - 516). UNIV CHICAGO PRESS

Crosby, AH; Proukakis, C; (2002) Is the transportation highway the right road for hereditary spastic paraplegia? AM J HUM GENET , 71 (5) 1009 - 1016.

Fenske, CD; Warner, TT; Patel, H; Patton, MA; Proukakis, C; Crosby, AH; (2002) Genetic heterogeneity in Silver syndrome. In: AMERICAN JOURNAL OF HUMAN GENETICS. (pp. 517 - 517). UNIV CHICAGO PRESS

Patel, H; Ciccarelli, F; Proukakis, C; Patton, MA; Bork, P; Crosby, AH; (2002) A novel sequence motif highlights a functional link between spartin and spastin, mutated in hereditary spastic paraplegia. In: AMERICAN JOURNAL OF HUMAN GENETICS. (pp. 520 - 520). UNIV CHICAGO PRESS

Patel, H; Cross, H; Proukakis, C; Hershberger, R; Bork, P; Ciccarelli, FD; ... Crosby, AH; + view all (2002) SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. NAT GENET , 31 (4) 347 - 348. 10.1038/ng937.

Proukakis, C; Cross, H; Patel, H; Patton, MA; Valentine, A; Crosby, AH; (2002) A clinical study of the Troyer syndrome, a recessively inherited form of complicated hereditary spastic paraplepia. In: AMERICAN JOURNAL OF HUMAN GENETICS. (pp. 260 - 260). UNIV CHICAGO PRESS

Proukakis, C; Hart, PE; Cornish, A; Warner, TT; Crosby, AH; (2002) Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia. J NEUROL SCI , 201 (1-2) 65 - 69.

2001

Mead, SH; Proukakis, C; Wood, N; Crosby, AH; Plant, GT; Warner, TT; (2001) A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members. J NEUROL NEUROSUR PS , 71 (6) 788 - 791.

Proukakis, C; Comiskey, C; Reid, E; Wilkinson, P; Rubinsztein, D; Patton, MA; ... Crosby, AH; + view all (2001) SPG4 (spastin) mutation screening in hereditary spastic paraparesis. AM J HUM GENET , 69 (4) 600 - 600.

1994

LI, XA; LEWANDA, AF; ELUMA, F; JERALD, H; CHOI, H; ALOZIE, I; ... JABS, EW; + view all (1994) 2 CRANIOSYNOSTOTIC SYNDROME LOCI, CROUZON AND JACKSON-WEISS, MAP TO CHROMOSOME-10Q23-Q26. GENOMICS , 22 (2) 418 - 424.

This list was generated on Sun Apr 20 06:43:10 2014 BST.

Page last modified on 12 feb 14 14:52