Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L-Reference-Cited by-同舟云学术

Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L

Published:2004-11-23 Issue:3 Volume:116 Page:222-224
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Tang Bei-sha,Zhao Guo-hua,Luo Wei,Xia Kun,Cai Fang,Pan Qian,Zhang Ru-xu,Zhang Fu-feng,Liu Xiao-min,Chen Biao,Zhang Cheng,Shen Lu,Jiang Hong,Long Zhi-gao,Dai He-ping

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-004-1218-3.pdf

Reference7 articles.

1. Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED (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

2. De Jonghe P, Timmerman V, Nelis E, Martin JJ, Van Broeckhoven C (1997) Charcot-Marie-Tooth disease and related peripheral neuropathies. J Peripher Nerv Syst 2:370?387

3. De Jonghe P, Timmerman V, Van Broeckhoven C (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): Naarden, The Netherlands, 26?28 September 1997. Neuromuscul Disord 8:426?431

4. Evgrafov OV, Mersiyanova I, Irobi J, Van Den Bosch L, Dierick I, Leung CL, Schagina O, Verpoorten N, Van Impe K, Fedotov V, Dadali E, Auer-Grumbach M, Windpassinger C, Wagner K, Mitrovic Z, Hilton-Jones D, Talbot K, Martin JJ, Vasserman N, Tverskaya S, Polyakov A, Liem RK, Gettemans J, Robberecht W, De Jonghe P, Timmerman V (2004) Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat Genet 36:602?606

5. Irobi J, Impe KV, Seeman P, Jordanova A, Dierick I, Verpoorten N, Michalik A, Vriendt ED, Jacobs A, Gerwen VV, Vennekens K, Mazanec R, Tournev I, Hilton-Jones D, Talbot K, Kremensky I, Bosch LV, Robberecht W, Vandekerckhove J, Broeckhoven CV, Gettemans J, Jonghe PD, Timmerman V (2004) Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. Nat Genet 36:597?601

Cited by 157 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. PINK1 and Parkin rescue motor defects and mitochondria dysfunction induced by a patient-derived HSPB3 mutant in Drosophila models;Biochemical and Biophysical Research Communications;2023-11

2. Hereditary Neuropathies;CONTINUUM: Lifelong Learning in Neurology;2023-10

3. PINK1 and Parkin Ameliorate the Loss of Motor Activity and Mitochondrial Dysfunction Induced by Peripheral Neuropathy-Associated HSPB8 Mutants in Drosophila Models;Biomedicines;2023-03-09

4. HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies;Autophagy;2023-02-28

5. Small heat shock proteins operate as molecular chaperones in the mitochondrial intermembrane space;Nature Cell Biology;2023-01-23