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

登录注册会员服务联系我们

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

Cited by 43 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. Advances and challenges in modeling inherited peripheral neuropathies using iPSCs;Experimental & Molecular Medicine;2024-06-03

2. FMRP Long-Range Transport and Degradation Are Mediated by Dynlrb1 in Sensory Neurons;Molecular & Cellular Proteomics;2023-11

3. Disruption of axonal transport in neurodegeneration;Journal of Clinical Investigation;2023-06-01

4. Alleviative effects of pinostrobin against cadmium-induced renal toxicity in rats by reducing oxidative stress, apoptosis, inflammation, and mitochondrial dysfunction;Frontiers in Nutrition;2023-05-24

5. Abnormal intraepidermal nerve fiber density in disease: A scoping review;Frontiers in Neurology;2023-04-20

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3