Polyribonucleotide nucleotidyltransferase 1 participates in metabolic-associated fatty liver disease pathogenesis by affecting lipid metabolism and mitochondrial homeostasis [PDF]
Molecular MetabolismObjective: Metabolic-associated fatty liver disease (MAFLD) represents one of the most prevalent chronic liver conditions worldwide, but its precise pathogenesis remains unclear.
Canghai Guan +8 more
doaj +5 more sources
Mutation in PNPT1 , which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency [PDF]
American Journal of Human Genetics, 2012 Multiple-respiratory-chain deficiency represents an important cause of mitochondrial disorders. Hitherto, however, mutations in genes involved in mtDNA maintenance and translation machinery only account for a fraction of cases. Exome sequencing in two siblings, born to consanguineous parents, with severe encephalomyopathy, choreoathetotic movements ...
Nathalie Boddaert +2 more
exaly +8 more sources
A novel polyribonucleotide nucleotidyltransferase 1 (<i>PNPT1</i>) gene variant potentially associated with combined oxidative phosphorylation deficiency 13: case report and literature review. [PDF]
Transl PediatrBACKGROUND: Combined oxidative phosphorylation deficiency 13 (COXPD13) results from mutations in the mitochondrial polyribonucleotide nucleotidyltransferase 1 (PNPT1) gene. However, none of COXPD13 is reported in China. This study presents the clinical and molecular genetic features of an infant of Chinese descent identified with a novel PNPT1 mutation,
Li YY, Gao Y, Zhong XX, Chen GF.
europepmc +3 more sources
SP1 and NFY Regulate the Expression of PNPT1, a Gene Encoding a Mitochondrial Protein Involved in Cancer. [PDF]
Int J Mol Sci, 2022 The Polyribonucleotide nucleotidyltransferase 1 gene (PNPT1) encodes polynucleotide phosphorylase (PNPase), a 30-50 exoribonuclease involved in mitochondrial RNA degradation and surveillance and RNA import into the mitochondrion.
Ventura I +5 more
europepmc +3 more sources
Proteomic characterization and cytotoxic potential of proteins from Cuscuta (Cuscuta epithymum (L.) crude herbal product against MCF-7 human breast cancer cell line [PDF]
BMC Complementary Medicine and TherapiesBackground The burden of breast cancer, the second leading cause of death worldwide, is increasing at an alarming rate. Cuscuta, used in traditional medicine for different ailments, including cancer, is known for containing phytochemicals that exhibit ...
Umaima Akhtar +6 more
doaj +2 more sources
Additional routes to Staphylococcus aureus daptomycin resistance as revealed by comparative genome sequencing, transcriptional profiling, and phenotypic studies. [PDF]
PLoS ONE, 2013 Daptomycin is an extensively used anti-staphylococcal agent due to the rise in methicillin-resistant Staphylococcus aureus, but the mechanism(s) of resistance is poorly understood.
Yang Song +4 more
doaj +6 more sources
Polyribonucleotide nucleotidyltransferase 1 (PNPT1; PNPASE) [PDF]
Science-Business eXchange, 2010 openaire +3 more sources
Mitochondrial RNA maturation. [PDF]
RNA Biol\ua9 2024 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group. The vast majority of oxygen-utilizing eukaryotes need to express their own mitochondrial genome, mtDNA, to survive.
Chrzanowska-Lightowlers ZM +1 more
europepmc +3 more sources
A Novel Pathway of Functional microRNA Uptake and Mitochondria Delivery
Advanced Science, 2023 Extracellular microRNAs (miRNAs) play a critical role in horizontal gene regulation. Uptake of extracellular miRNAs by recipient cells and their intracellular transport, however, remains elusive.
Jiachen Liu +13 more
doaj +1 more source