Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations-Reference-Cited by-同舟云学术

Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations

Published:2017-02-25 Issue:5 Volume:38 Page:556-568
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Echaniz-Laguna Andoni¹,Geuens Thomas²,Petiot Philippe³,Péréon Yann⁴,Adriaenssens Elias²,Haidar Mansour²,Capponi Simona²,Maisonobe Thierry⁵,Fournier Emmanuel⁵,Dubourg Odile⁵,Degos Bertrand⁶,Salachas François⁶,Lenglet Timothée⁵,Eymard Bruno⁵,Delmont Emilien⁷,Pouget Jean⁸,Juntas Morales Raul⁹,Goizet Cyril¹⁰,Latour Philippe¹¹,Timmerman Vincent²,Stojkovic Tanya⁵

Affiliation:

1. Department of Neurology, Neuromuscular Disease Centre (CERNEST); Strasbourg University Hospital; Strasbourg France

2. Peripheral Neuropathy Group, VIB Department of Molecular Genetics and Institute Born Bunge; University of Antwerp; Antwerpen Belgium

3. Neuromuscular Disease Centre; Lyon University Hospital; Lyon France

4. Neuromuscular Disease Centre; Nantes University Hospital; Nantes France

5. Neuromuscular Disease Centre; Hôpital de la Pitié-Salpétrière, APHP; Paris France

6. APHP, Department of Neurology; Hôpital de la Pitié-Salpêtrière; Paris France

7. Neuromuscular Disease Centre; Nice University Hospital; Nice France

8. Neuromuscular Disease Centre; Marseille University Hospital, APHM; Marseille France

9. Neuromuscular Disease Centre; Montpellier University Hospital; Montpellier France

10. Department of Genetics; Bordeaux University Hospital; Bordeaux France

11. Biology and Pathology Department; Lyon University Hospital; Bron France

Funder

Universiteit Antwerpen

Fund for Scientific Research (FWO-Flanders)

Association Belge contre les Maladies Neuro-Musculaires

Medical Foundation Queen Elisabeth

Seventh Framework Programme

Integrated European-omics Research Project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23189/fullpdf

Reference38 articles.

1. A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes;Ackerley;Hum Mol Genet,2006

2. Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy;Almeida-Souza;J Biol Chem,2010

3. Recent advances in Charcot-Marie-Tooth disease;Baets;Curr Opin Neurol,2014

4. Neuropathy- and myopathy-associated mutations in human small heat shock proteins: characteristics and evolutionary history of the mutation sites;Benndorf;Rev Mutat Res,2014

5. Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features;Bombelli;JAMA Neurol,2014

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