Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease-Reference-Cited by-同舟云学术

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Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease

Published:2017-06-08 Issue:17 Volume:26 Page:3313-3326
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Kalmar Bernadett¹,Innes Amy¹²,Wanisch Klaus³,Kolaszynska Alicia Koyen¹,Pandraud Amelie²³,Kelly Gavin⁴,Abramov Andrey Y.²,Reilly Mary M.²³,Schiavo Giampietro¹,Greensmith Linda¹²

Affiliation:

1. Sobell Department of Motor Neuroscience and Movement Disorders

2. MRC Centre for Neuromuscular Diseases

3. Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square House, Queen Square, London WC1N 3BG, UK

4. Bioinformatics and Biostatistics Science Technology Platform, The Francis Crick Institute, London NW1 1AT, UK

Funder

Brain Research Trust

Cancer Research UK

Medical Research Council

MRC

CRUK

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/26/17/3313/23872042/ddx216.pdf

Reference67 articles.

1. Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy;Evgrafov;Nat. Genet,2004

2. Asymmetrical late onset motor neuropathy associated with a novel mutation in the small heat shock protein HSPB1 (HSP27);James;J. Neurol. Neurosurg. Psychiatry,2008

3. Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2;Houlden;Neurology,2008

4. A novel p.Glu175X premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2;Rossor;J. Peripher. Nerv. Syst,2012

5. A clinical phenotype of distal hereditary motor neuronopathy type II with a novel HSPB1 mutation;Ikeda;J. Neurol. Sci,2009

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