Affiliation: National Institute for Medical Research
- A systematic analysis of human CHMP protein interactions: additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complexHilda T H Tsang
Department of Medical Genetics and Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 2XY, UK
Genomics 88:333-46. 2006..In particular, we show that two further MIT domain-containing proteins (AMSH/STAMBP and LOC129531) interact with multiple components of the human ESCRT III complex...
- The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1BEvan Reid
Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK
Hum Mol Genet 14:19-38. 2005....
- The hereditary spastic paraplegiasE Reid
Department of Medical Genetics, Cambridge Institute for Medical Research, Addenbrooke s Hospital, UK
J Neurol 246:995-1003. 1999..This article describes the main clinical features of pure and complicated hereditary spastic paraplegias and summarises recent advances in our understanding of the molecular genetics of these conditions...
- A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)Evan Reid
Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, United Kingdom
Am J Hum Genet 71:1189-94. 2002....
- Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegiasE Reid
Department of Medical Genetics, University of Cambridge, Box 134, Addenbrooke s Hospital, Cambridge, UK
J Med Genet 40:81-6. 2003..Until recently, no functional overlap was apparent in the associated molecular pathological mechanisms. However, with recent progress in hereditary spastic paraplegia gene identification, common pathological themes are now emerging...
- Many pathways lead to hereditary spastic paraplegiaEvan Reid
Department of Medical Genetics, University of Cambridge, Box 134, Addenbrooke s Hospital, CB2 2QQ, Cambridge, UK
Lancet Neurol 2:210. 2003
- A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13E Reid
Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom
Am J Hum Genet 66:728-32. 2000..Haplotype construction and analysis of recombination events narrowed the SPG12 locus to a 16.1-cM region between markers D19S868 and D19S902...
- A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneityE Reid
Department of Medical Genetics, University of Cambridge, Cambridge CB2 2XY, United Kingdom
Am J Hum Genet 65:757-63. 1999..2-cM region between markers D12S368 and D12S83. In addition, our data strongly suggest that there are at least six ADPHSP loci, since we describe a further family in which linkage to all five known ADPHSP loci has been excluded...
- The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signallingHilda T H Tsang
Cambridge Institute for Medical Research, Addenbrooke s Hospital, UK
Hum Mol Genet 18:3805-21. 2009....
- X-linked adrenoleukodystrophy presenting as autosomal dominant pure hereditary spastic paraparesisC J Shaw-Smith
Department of Medical Genetics, University of Cambridge, UK
J Neurol Neurosurg Psychiatry 75:686-8. 2004..This report illustrates the importance of assaying very long chain fatty acids (VLCFAs) in any HSP family where there is no male to male transmission...
- Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) geneC Proukakis
Department of Medical Genetics, St George s Hospital Medical School, University of London, Cranmer Terrace, London SW17 0RE, UK
Hum Mutat 21:170. 2003..3%, suggesting that screening of such patients for SPG4 mutations is worthwhile. Most patients will have unique mutations. Screening of SPG4 in apparently isolated cases of HSP may be of less value...
- Spastin couples microtubule severing to membrane traffic in completion of cytokinesis and secretionJames W Connell
Department of Medical Genetics and Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK
Traffic 10:42-56. 2009..Our results support a model in which membrane traffic and MT regulation are coupled through spastin. This model is relevant in the axon, where there also is co-ordinated MT regulation and membrane traffic...
- A review on the genetics of otosclerosisI Moumoulidis
Department of Otolaryngology, University of Cambridge, Addenbrooke s Hospital, Hills Road, Cambridge, UK
Clin Otolaryngol 32:239-47. 2007..It is, however, certain that a genetic component plays a significant role in the manifestation of otosclerosis, although the precise mode of inheritance is still uncertain...
- Drosophila spichthyin inhibits BMP signaling and regulates synaptic growth and axonal microtubulesXinnan Wang
Department of Genetics, University of Cambridge, Downing Street, Cambridge, CB2 3EH, UK
Nat Neurosci 10:177-85. 2007....
- An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletionChristian Beetz
Neurogenetics 8:317-8. 2007
- Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partnersChristopher M Sanderson
The Psychological Laboratory, School of Biomedical Sciences, University of Liverpool, Crown Street, Liverpool L69 3BX, UK
Hum Mol Genet 15:307-18. 2006..They also provide further evidence for a physiological and pathological role of spastin in membrane dynamics...
- Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalitiesCarla Marini
Epilepsy, Neurophysiology and Neurogenetic Unit, Institute of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy
Epilepsia 48:1678-85. 2007..We studied 132 patients with epilepsy syndromes with seizures precipitated by fever, and performed phenotype-genotype correlations with SCN1A alterations...
- Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegiaPaul N Valdmanis
Hopital Notre Dame CHUM, Montreal, Quebec, H2L 4M1, Canada
Am J Hum Genet 80:152-61. 2007..However, the function of the 1,159-aa strumpellin protein is relatively unknown. The identification and characterization of the KIAA0196 gene will enable further insight into the pathogenesis of HSP...
- A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32Sergiu C Blumen
Department of Neurology, Hillel Yaffe Medical Center, Hadera Israel
Ann Neurol 54:796-803. 2003..A genomewide linkage screen performed for the family identified a new locus (SPG23) for this form of hereditary spastic paraplegia, in an approximately 25cM region of chromosome 1q24-q32, with a peak logarithm of odds score of 3.05...