Results 1 to 10 of about 3,888 (165)

Polyribonucleotide nucleotidyltransferase 1 participates in metabolic-associated fatty liver disease pathogenesis by affecting lipid metabolism and mitochondrial homeostasis [PDF]

Molecular Metabolism
Objective: Metabolic-associated fatty liver disease (MAFLD) represents one of the most prevalent chronic liver conditions worldwide, but its precise pathogenesis remains unclear.
Canghai Guan, Xinlei Zou, Chengru Yang, Wujiang Shi, Jianjun Gao, Yifei Ge, Zhaoqiang Xu, Shaowu Bi, Xiangyu Zhong   +8 more
doaj   +6 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, Nina Entelis, Ivan Tarassov   +2 more
exaly   +9 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 Pediatr
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, which may ...
Li YY, Gao Y, Zhong XX, Chen GF.
europepmc   +5 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, Weili Li, Jianfeng Li, Eli Song, Hongwei Liang, Weiwei Rong, Xinli Jiang, Nuo Xu, Wei Wang, Shuang Qu, Shouyong Gu, Yujing Zhang, Chen‐ Yu Zhang, Ke Zen   +13 more
doaj   +3 more sources

Polyribonucleotide Nucleotidyltransferase 1, Mitochondrial [PDF]

Definitions, 2020
Polyribonucleotide nucleotidyltransferase 1, mitochondrial (783 aa, ~86 kDa) is encoded by the human PNPT1 gene. This protein is involved in the regulation of processing and degradation of mRNA.
semanticscholar   +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 3′-5′ exoribonuclease involved in mitochondrial RNA degradation and surveillance and RNA import into the mitochondrion.
Ventura I, Revert F, Revert-Ros F, Gómez-Tatay L, Prieto-Ruiz JA, Hernández-Andreu JM.   +5 more
europepmc   +5 more sources

Heterozygous PNPT1 Variants Cause a Sensory Ataxic Neuropathy. [PDF]

Eur J Neurol
Biallelic variants in polyribonucleotide‐nucleotidyltransferase‐1 (PNPT1) have been associated with a range of phenotypes from syndromic hearing loss to Leigh's syndrome. More recently, heterozygous variants in PNPT1, have been reported in three families
Haddad S, Record CJ, Self E, Skorupinska M, Rossor AM, Laura M, Ingle G, Manzur A, Muntoni F, Blake JC, Reilly MM.   +10 more
europepmc   +3 more sources

cGAS/STING-Independent Induction of Type I Interferon by Inhibitors of the Histone Methylase KDM5B. [PDF]

FASEB J
Studies support the role of hexamethylene bis‐acetamide [HMBA] induced protein 1 (HEXIM1) as a tumor suppressor. We previously reported that the histone demethylase, KDM5B, inhibits the expression of HEXIM1, and KDM5B inhibitors (KDM5Bi) upregulate ...
Montano MM, Yeh IJ, Ketchart W.
europepmc   +3 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, Aileen Rubio, Radheshyam K Jayaswal, Jared A Silverman, Brian J Wilkinson   +4 more
doaj   +7 more sources

Circ-PNPT1 contributes to gestational diabetes mellitus (GDM) by regulating the function of trophoblast cells through miR-889-3p/PAK1 axis

Diabetology & Metabolic Syndrome, 2021
Background Gestational diabetes mellitus (GDM) is the most common medical complication of pregnancy. CircRNA polyribonucleotide nucleotidyltransferase 1 (circ-PNPT1) has been found to be abnormally expressed in GDM patients.
Li Zhang, Ming Zeng, Fei Tang, Jun Chen, Dongmei Cao, Ze-nan Tang   +5 more
doaj   +2 more sources