Associated Papers
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Lenz D et al.
Hepatology (baltimore, Md.), 2024
Liver transplantation for mitochondrial DNA depletion syndrome caused by MPV17 deficiency: a case report and literature review.
Wei LY et al.
Frontiers in Surgery, 2024
Drosophila Mpv17 forms an ion channel and regulates energy metabolism.
Corrà S et al.
Iscience, 2023
MPV17 mutation-related mitochondrial DNA depletion syndrome: A case series in infants.
Samanta A et al.
Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 2023
Hepatic presentations of mitochondrial DNA depletion syndrome in children: A single tertiary liver centre experience.
Vara R et al.
Journal of Inherited Metabolic Disease, 2023
Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children.
Squires JE et al.
Hepatology Communications, 2023
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial disease.
Watanabe C et al.
Molecular Genetics and Metabolism Reports, 2023
A Drosophila model of the neurological symptoms in Mpv17-related diseases.
Kodani A et al.
Scientific Reports, 2022
Outcomes after liver transplantation in MPV17 deficiency (Navajo neurohepatopathy): A single-center case series.
Huang AC et al.
Pediatric Transplantation, 2022
Real-life Progression of the Use of a Genetic Panel in to Diagnose Neonatal Cholestasis.
Ito S et al.
Jpgn Reports, 2022
Outcomes of liver transplantation for mitochondrial respiratory chain disorder in children.
Uchida H et al.
Pediatric Transplantation, 2021
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-related Hepatocerebral Mitochondrial DNA Depletion Syndrome.
Hong KT et al.
The Korean Journal of Gastroenterology = Taehan Sohwagi Hakhoe Chi, 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
Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series.
Mahjoub G et al.
Bmc Medical Genetics, 2019
The zebrafish orthologue of the human hepatocerebral disease gene MPV17 plays pleiotropic roles in mitochondria.
Martorano L et al.
Disease Models & Mechanisms, 2019
MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy.
Baumann M et al.
Clinical Genetics, 2019
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Koumbaris G et al.
Molecular Cytogenetics, 2019
Identification of a single MPV17 nonsense-associated altered splice variant in 24 South African infants with mitochondrial neurohepatopathy.
Meldau S et al.
Clinical Genetics, 2018
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
Neuromuscular Manifestations in Mitochondrial Diseases in Children.
Nascimento A et al.
Seminars in Pediatric Neurology, 2016
MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome.
Kim J et al.
Molecular Genetics and Metabolism Reports, 2016
A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy.
Choi YR et al.
Bmc Neurology, 2015
Mitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function.
Iommarini L et al.
Mitochondrion, 2015
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
Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy.
Piekutowska-Abramczuk D et al.
Clinical Genetics, 2014
Inherited peripheral neuropathies due to mitochondrial disorders.
Cassereau J et al.
Revue Neurologique, 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
Gastrointestinal and hepatic manifestations of mitochondrial disorders.
Rahman S
Journal of Inherited Metabolic Disease, 2013
Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options.
El-Hattab AW et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2013
MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions.
Garone C et al.
Archives of Neurology, 2012
MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle.
Blakely EL et al.
Neuromuscular Disorders : Nmd, 2012
Mitochondrial DNA mutations and depletion in pediatric medicine.
Spinazzola A
Seminars in Fetal & Neonatal Medicine, 2011
MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.
El-Hattab AW et al.
Molecular Genetics and Metabolism, 2010
Genetic causes of mitochondrial DNA depletion in humans.
Rötig A et al.
Biochimica Et Biophysica Acta, 2009
Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).
Poulton J et al.
Biochimica Et Biophysica Acta, 2009
Autosomal recessive diseases among the Athabaskans of the southwestern United States: recent advances and implications for the future.
Erickson RP
American Journal of Medical Genetics. Part A, 2009
Clinical and molecular features of mitochondrial DNA depletion syndromes.
Spinazzola A et al.
Journal of Inherited Metabolic Disease, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice.
Viscomi C et al.
Human Molecular Genetics, 2009
Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients.
Parini R et al.
Journal of Hepatology, 2009
Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: description of an alternative MPV17 spliced form.
Navarro-Sastre A et al.
Molecular Genetics and Metabolism, 2008
Inherited mitochondrial diseases of DNA replication.
Copeland WC
Annual Review of Medicine, 2008
Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.
Wong LJ et al.
Hepatology (baltimore, Md.), 2007
Mitochondrial hepatopathies: advances in genetics and pathogenesis.
Lee WS et al.
Hepatology (baltimore, Md.), 2007