Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy
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Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, (2003) Glycyl tRNA synthetase mutations in Charcot–Marie–Tooth disease type 2D and distal spinal muscular atrophy type V Am J Hum Genet. 72:1293–1299
Benn SC, Perrelet D, Kato AC, Scholz J, Decosterd I, Mannion RJ, (2002) Hsp27 upregulation and phosphorylation is required for injured sensory and motor neuron survival Neuron 36:45–56
De Jonghe P, Timmerman V, Van Broeckhoven C, workshop participants (1998) Second workshop of the European CMT consortium: 53rd ENMC international workshop on classification and diagnostic guidelines for Charcot–Marie–Tooth type 2 (CMT2-HMSN II) and distal hereditary motor neuropathy (distal HMN-spinal CMT) 26–28 September 1997, Naarden, The Netherlands. Neuromuscul Disord 8:426–431
Evgrafov OV, Mersiyanova I, Irobi J, Van Den Bosch L, Dierick I, Leung CL, (2004) Mutant small heat-shock protein 27 causes axonal Charcot–Marie–Tooth disease and distal hereditary motor neuropathy Nat Genet. 36:602–606
Gabai VL, Sherman MY, (2002) Invited review: interplay between molecular chaperones and signaling pathways in survival of heat shock J Appl Physiol 92:1743–1748
Irobi J, Van Impe K, Seeman P, Jordanova A, Dierick I, Verpoorten N, (2004) Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy Nat Genet 36:597–601
Ismailov SM, Fedotov VP, Dadali EL, Polyakov AV, Van Broeckhoven C, Ivanov VI, (2001) A new locus for autosomal dominant Charcot–Marie–Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21 Eur J Hum Genet 9:646–650
Klein CJ, Cunningham JM, Atkinson EJ, Schaid DJ, Hebbring SJ, Anderson SA, (2003) The gene for HMSN2C maps to 12q23–24: a region of neuromuscular disorders Neurology 60:1151–1156
Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, (2000) A new variant of Charcot–Marie–Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene Am J Hum Genet. 67:37–46
Nelis E, Berciano J, Verpoorten N, Coen K, Dierick I, Van Gerwen V, (2004) Autosomal dominant axonal Charcot–Marie–Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3 J Med Genet. 41:193–197
Perng MD, Cairns L, van den IJssel P, Prescott A, Hutcheson AM, Quinlan RA, (1999) Intermediate filament interactions can be altered by HSP27 and alphaB-crystallin J Cell Sci. 112:2099–2112
Selcen D, Engel AG, (2003) Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations Ann Neurol 54:804–810
Takashima H, Nakagawa M, Suehara M, Saito M, Saito A, Kanzato N, (1999) Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1 Neuromuscul Disord 9:368–371
Tang BS, Luo W, Xia K, Xiao JF, Jiang H, Shen L, (2004) A new locus for autosomal dominant Charcot–Marie–Tooth disease type 2 (CMT2L) maps to chromosome 12q24 Hum Genet 114:527–533
Tang BS, Zhao GH, Luo W, Xia K, Cai F, Pan Q, (2005) Small heat-shock protein 22 mutated in autosomal dominant Charcot–Marie–Tooth disease type 2L Hum Genet. 116:222–224
Verhoeven K, De Jonghe P, Coen K, Verpoorten N, Auer-Grumbach M, Kwon JM, (2003) Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot–Marie–Tooth type 2B neuropathy Am J Hum Genet. 72:722–727
Vicart P, Caron A, Guicheney P, Li Z, Prevost MC, Faure A, (1998) A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy Nat Genet. 20:92–95
Vleminckx V, Van Damme P, Goffin K, Delye H, Van Den Bosch L, Robberecht W, (2002) Upregulation of HSP27 in a transgenic model of ALS J Neuropathol Exp Neurol. 61:968–974