MT-ATP6mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases-Reference-Cited by-同舟云学术

MT-ATP6mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases

Published:2019-03-04 Issue:5 Volume:40 Page:499-515
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Ganetzky Rebecca D.¹²^ORCID,Stendel Claudia³,McCormick Elizabeth M.¹^ORCID,Zolkipli-Cunningham Zarazuela¹²,Goldstein Amy C.¹²,Klopstock Thomas⁴,Falk Marni J.¹²^ORCID

Affiliation:

1. Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia; Philadelphia Pennsylvania

2. Department of Pediatrics; Perelman School of Medicine, University of Pennsylvania; Philadelphia Pennsylvania

3. Department of Psychiatry; Ludwig Maximilians University of Munich; Munich Germany

4. Department of Neurology; Ludwig Maximilians University of Munich; Munich Germany

Funder

Eunice Kennedy Shriver National Institute of Child Health and Human Development

United Mitochondrial Disease Foundation

National Institute of Neurological Disorders and Stroke

North American Mitochondrial Disease Consortium

National Institute of Diabetes and Digestive and Kidney Diseases

Foundation for the National Institutes of Health

North American Mitochondrial Disease Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23723/fullpdf

Reference43 articles.

1. Detection of mitochondrial respiratory dysfunction in circulating lymphocytes using resazurin;Abu-Amero;Archives of Pathology & Laboratory Medicine,2005

2. Co segregation of the m.1555A>G mutation in the MT-RNR1 gene and mutations in MT-ATP6 gene in a family with dilated mitochondrial cardiomyopathy and hearing loss: A whole mitochondrial genome screening;Alila-Fersi;Biochemical and Biophysical Research Communications,2017

3. Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations;Aure;Neurology,2013

4. Catalytic activities of mitochondrial ATP synthase in patients with mitochondrial DNA T8993G mutation in the ATPase 6 gene encoding subunit a;Baracca;The Journal of Biological Chemistry,2000

5. USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis;Barca;Human Molecular Genetics,2018

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