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Genomes and Genes | Andrew H CrosbySummaryAffiliation: St George's Country: UK Publications
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Publications
Mutation of HERC2 causes developmental delay with Angelman-like featuresGaurav V Harlalka
Centre for Human Genetics, St George s University of London, London, UK
J Med Genet 50:65-73. 2013..Deregulation of the activity of the ubiquitin ligase E6AP (UBE3A) is well recognised to contribute to the development of Angelman syndrome (AS). The ubiquitin ligase HERC2, encoded by the HERC2 gene is thought to be a key regulator of E6AP...
Defective mitochondrial mRNA maturation is associated with spastic ataxiaAndrew H Crosby
Centre for Medical Genetics, St George s University London, UK
Am J Hum Genet 87:655-60. 2010....
Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegiaChristos Proukakis
Dept. of Medical Genetics, St. George's Hospital Medical School, University of London, Cranmer Terrace, London SW17 0RE, UK
J Neurol 251:1105-10. 2004..This study, coupled with the recent identification of the gene responsible (SPG20, encoding spartin), increases our understanding of this form of HSP...- Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthaseMichael A Simpson
Department of Medical Genetics, St George s Hospital Medical School, University of London, Cranmer Terrace, London SW17 0RE, UK
Nat Genet 36:1225-9. 2004.... - A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegiaJohanna A Reed
Department of Medical Genetics, St George s Hospital Medical School, Cranmer Terrace, Tooting, London, SW17 0RE, UK
Neurogenetics 6:79-84. 2005..6). Subsequent mutation analysis identified a novel missense substitution in a highly conserved NIPA1 residue (G106R) which further confirms a causative link between NIPA1 mutation and autosomal dominant hereditary spastic paraplegia... - Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neuronsDimitri Robay
Medical Genetics, St. George's, University of London, Cranmer Terrace, London SW17 0RE, UK
Exp Cell Res 312:2764-77. 2006..Investigation of these spartin-positive vesicles reveals that a large proportion colocalizes with the synaptic vesicle marker synaptotagmin. Spartin is also enriched in synaptic-like structures and in synaptic vesicle-enriched fraction... - Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)Katherine J Dick
Medical Genetics, Clinical Developmental Sciences, St George s University of London, London, UK
Hum Mutat 31:E1251-60. 2010..c) 2010 Wiley-Liss, Inc... - Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degenerationMaria K Tsaousidou
Medical Genetics, Clinical Developmental Sciences, St George s University of London, Cranmer Terrace, London, SW17 0RE, UK
Am J Hum Genet 82:510-5. 2008..These findings provide the first direct evidence of a pivotal role of altered cholesterol metabolism in the pathogenesis of motor-neuron degenerative disease and identify a potential for therapeutic intervention in this form of HSP... - Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3Michael A Simpson
Medical Genetics, Clinical Developmental Sciences, St George s University of London, London, UK
Am J Kidney Dis 53:790-5. 2009..We present a clinical and genetic study of a lethal form of nephronophthisis in neonates... - Refinement of the locus for distal hereditary motor neuronopathy VII (dHMN-VII) and exclusion of candidate genesKatherine J Dick
Department of Medical Genetics, St George s University of London, Cranmer Terrace, London SW17ORE, United Kingdom
Genome 51:959-62. 2008..Inspection of genomic databases indicates that this refinement of the critical interval by 8.4 Mb reduces the number of candidate genes from approximately 400 to approximately 100... - SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegiaHeema Patel
Department of Medical Genetics, St George s Hospital Medical School, University of London, Cranmer Terrace, London SW17 0RE, UK
Nat Genet 31:347-8. 2002..Comparative sequence analysis indicates that spartin shares similarity with molecules involved in endosomal trafficking and with spastin, a molecule implicated in microtubule interaction that is commonly mutated in HSP... - Defective presynaptic choline transport underlies hereditary motor neuropathyKaty E S Barwick
Centre for Human Genetics, St George s University of London, Cranmer Terrace, London SW17 0RE, UK
Am J Hum Genet 91:1103-7. 2012..Our findings compel consideration of mutations in SLC5A7 or its functional partners in relation to unexplained motor neuronopathies...