MFN2 mutations in Charcot–Marie–Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics-Reference-Cited by-同舟云学术

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MFN2 mutations in Charcot–Marie–Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics

Published:2019-01-11 Issue:11 Volume:28 Page:1782-1800
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Larrea Delfina¹,Pera Marta¹,Gonnelli Adriano²,Quintana–Cabrera Rubén²,Akman H Orhan¹,Guardia-Laguarta Cristina³,Velasco Kevin R¹,Area-Gomez Estela¹,Dal Bello Federica²,De Stefani Diego⁴,Horvath Rita⁵,Shy Michael E⁶,Schon Eric A¹⁷,Giacomello Marta²

Affiliation:

1. Department of Neurology, Columbia University Medical Center, New York, NY, USA

2. Department of Biology, University of Padova 35131, Italy

3. Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY, USA

4. Department of Biomedical Sciences, University of Padova, Italy

5. Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK

6. Department of Neurology, University of Iowa, Iowa City, IA, USA

7. Department of Genetics and Development, Columbia University Medical Center, New York, NY, USA

Funder

Inherited Neuropathies Consortium

Newton Fund

Wellcome Trust Pathfinder Scheme

European Research Council

MRC

Wellcome Centre for Mitochondrial Research

Unipd STARS Consolidator

DeBio Departmental Research Project PRID Seed 2017

CARIPARO Starting Grant 2016 AIFbiol

Keith B Hayes Foundation and the Kassab Family

American Parkinson Disease Association

U.S. National Institutes of Health

J. Willard and Alice S. Marriott Foundation

U.S. Department of Defense

Publisher

Oxford University Press (OUP)

Subject

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

Link

http://academic.oup.com/hmg/article-pdf/28/11/1782/28659106/ddz008.pdf

Reference80 articles.

1. Hereditary motor and sensory neuropathy of neuronal type with onset in early childhood;Ouvrier;J. Neurol. Sci.,1981

2. Cerebral white matter abnormalities in patients with Charcot–Marie–Tooth disease;Lee;Ann. Neurol.,2017

3. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot–Marie–Tooth neuropathy type 2A;Zuchner;Nat. Genet.,2004

4. A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype;Iapadre;Eur. J. Paediatr. Neurol.,2018

5. Mutational mechanisms in MFN2-related neuropathy: compound heterozygosity for recessive and semidominant mutations;Piscosquito;J. Peripher. Nerv. Syst.,2015

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