Associated Papers
Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.
Tabassum I et al.
International Journal of Molecular Sciences, 2025
41516090 (PubMed )
Supplement: ijms-27-00206-s001.zip › Supplementary_Table_S2__Tabassum_et_al.xlsx › Table_S2A
Drosophila Mpv17 forms an ion channel and regulates energy metabolism.
Corrà S et al.
Iscience, 2023
MPV17 Mutations Are Associated With a Quiescent Energetic Metabolic Profile.
Jacinto S et al.
Frontiers in Cellular Neuroscience, 2021
Characterization of pediatric hepatocellular carcinoma reveals genomic heterogeneity and diverse signaling pathway activation.
Haines K et al.
Pediatric Blood & Cancer, 2019
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
30273399 (PubMed )
Supplement: pone.0205014.s003.doc
MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome.
Kim J et al.
Molecular Genetics and Metabolism Reports, 2016
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
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
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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