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MPV17 mutation-related mitochondrial DNA depletion syndrome: A case series in infants.
Indian J Gastroenterol
August 2023
Department of Pediatric Gastroenterology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, 226 014, India.
MPV17 is a mitochondrial inner membrane protein, involved in transporting deoxynucleotides into the mitochondria. Pathogenic MPV17 mutations can cause mitochondrial deoxyribonucleic acid (DNA) depletion syndrome, which has a varied presentation with neurological, muscular and hepatic involvement. Presentation as liver failure is relatively uncommon.
View Article and Find Full Text PDFMPV17 does not control cancer cell proliferation.
PLoS One
July 2020
Laboratory of Biochemistry and Cell Biology (URBC), NAmur Research Institute for LIfe Sciences (NARILIS), University of Namur (UNamur), Namur, Belgium.
MPV17 is described as a mitochondrial inner membrane channel. Although its function remains elusive, mutations in the MPV17 gene result in hepato-cerebral mitochondrial DNA depletion syndrome in humans. In this study, we show that MPV17 silencing does not induce depletion in mitochondrial DNA content in cancer cells.
View Article and Find Full Text PDFMitochondrial depletion syndromes in children and adults.
Can J Neurol Sci
September 2013
Krankenanstalt Rudolfstiftung, Vienna, Austria.
To highlight differences between early-onset and adult mitochondrial depletion syndromes (MDS) concerning etiology and genetic background, pathogenesis, phenotype, clinical presentation and their outcome. MDSs most frequently occur in neonates, infants, or juveniles and more rarely in adolescents or adults. Mutated genes phenotypically presenting with adult-onset MDS include POLG1, TK2, TyMP, RRM2B, or PEO1/twinkle.
View Article and Find Full Text PDFTransient improvement of acquired hepatocerebral degeneration with parkinsonian symptoms after failed liver transplant: case report and literature review.
Exp Clin Transplant
December 2011
Department of Medicine, University of British Columbia, Vancouver, BC, Canada.
Objectives: Acquired (non-Wilsonian) hepato-cerebral degeneration is an infrequent neurologic disorder in patients with liver dysfunction and longstanding portal-systemic shunting. The clinical manifestations include dysarthria, ataxia, tremor, and cognitive dysfunction. Typically, patients with acquired hepatocerebral degeneration respond poorly to medical therapy as the underlying end-stage liver disease remains.
View Article and Find Full Text PDFInherited mitochondrial neuropathies.
J Neurol Sci
May 2011
Krankenanstalt Rudolfstiftung, Vienna, Austria.
Mitochondrial disorders (MIDs) occasionally manifest as polyneuropathy either as the dominant feature or as one of many other manifestations (inherited mitochondrial neuropathy). MIDs in which polyneuropathy is the dominant feature, include NARP syndrome due to the transition m.8993T>, CMT2A due to MFN2 mutations, CMT2K and CMT4A due to GDAP1 mutations, and axonal/demyelinating neuropathy with external ophthalmoplegia due to POLG1 mutations.
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