Associated Papers
Drosophila Mpv17 forms an ion channel and regulates energy metabolism.
Corrà S et al.
Iscience, 2023
Saccharomyces cerevisiae as a Tool for Studying Mutations in Nuclear Genes Involved in Diseases Caused by Mitochondrial DNA Instability.
Gilea AI et al.
Genes, 2021
MPV17 Mutations Are Associated With a Quiescent Energetic Metabolic Profile.
Jacinto S et al.
Frontiers in Cellular Neuroscience, 2021
Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation.
Shimura M et al.
Orphanet Journal of Rare Diseases, 2020
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
El-Hattab AW et al.
Human Mutation, 2018
Pathological alleles of MPV17 modeled in the yeast Saccharomyces cerevisiae orthologous gene SYM1 reveal their inability to take part in a high molecular weight complex.
Gilberti M et al.
Plos One, 2018
The role of the Mpv17 protein mutations of which cause mitochondrial DNA depletion syndrome (MDDS): lessons from homologs in different species.
Löllgen S et al.
Biological Chemistry, 2015
Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: focusing on mitochondrial DNA depletion syndrome.
Yamazaki T et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2014
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.
Uusimaa J et al.
European Journal of Human Genetics : Ejhg, 2014
MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.
El-Hattab AW et al.
Molecular Genetics and Metabolism, 2010
Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II.
Kaji S et al.
Molecular Genetics and Metabolism, 2009
The late radiotherapy normal tissue injury phenotypes of telangiectasia, fibrosis and atrophy in breast cancer patients have distinct genotype-dependent causes.
Giotopoulos G et al.
British Journal of Cancer, 2007
Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene.
AlSaman A et al.
Saudi Journal of Gastroenterology : Official Journal of the Saudi Gastroenterology Association, 0
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