Homozygous R627W mutations in POLG cause mitochondrial DNA depletion leading to encephalopathy, seizures and stroke-like episodes-Reference-Cited by-同舟云学术

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Homozygous R627W mutations in POLG cause mitochondrial DNA depletion leading to encephalopathy, seizures and stroke-like episodes

Published:2019-09 Issue: Volume:48 Page:78-83
ISSN:1567-7249
Container-title:Mitochondrion
language:en
Short-container-title:Mitochondrion

Author:

Paramasivam Arumugam,Venkatapathi Challa,Sandeep Gampa,Meena Angamuthu K.,Uppin Megha S.,Mohapatra Swati,Pitceathly Robert D.S.,Thangaraj Kumarasamy

Funder

Council of Scientific and Industrial Research (CSIR), Government of India

Science and Engineering Research Board (SERB), Government of India

Science and Engineering Research Board

Medical Research Council Clinician Scientist Fellowship

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Molecular Medicine

Reference21 articles.

1. Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations;Ashley;Hum. Mol. Genet.,2008

2. Nuclear-encoded mitochondrial proteins and their role in cardioprotection;Boengler;Biochim. Biophys. Acta,2011

3. DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations;Chan;Biochim. Biophys. Acta,2009

4. Mitochondrial disorders overview;Chinnery,1993

5. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene;Horvath;Brain,2006

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