Results 131 to 140 of about 1,648 (159)

MiR-183-5p-PNPT1 Axis Enhances Cisplatin-induced Apoptosis in Bladder Cancer Cells

Current Medical Science, 2022
Abstract Objective It has been reported that intrinsic apoptosis is associated with the progression of bladder cancer (BC). Recent evidence suggests that polyribonucleotide nucleotidyltransferase 1 (PNPT1) is a pivotal mediator involved in RNA decay and cell apoptosis.
Qingxi Hu, Zhi Yang, Jiawei Chen, Gallina Kazobinka, Liang Tian, Wencheng Li   +5 more
exaly   +3 more sources

Blockade of pan-viral propagation by inhibition of host cell PNPT1

International Journal of Antimicrobial Agents
For successful viral propagation within infected cells, the virus needs to overcome the cellular integrated stress response (ISR), triggered during viral infection, which, in turn, inhibits general protein translation. This paper reports a tactic employed by viruses to suppress the ISR by upregulating host cell polyribonucleotide nucleotidyltransferase
Ya-Liang Zhang, Ke Zen
exaly   +3 more sources

Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease [PDF]

European Journal of Human Genetics, 2016
Recent advances in next-generation sequencing strategies have led to the discovery of many novel disease genes. We describe here a non-consanguineous family with two affected boys presenting with early onset of severe axonal neuropathy, optic atrophy, intellectual disability, auditory neuropathy and chronic respiratory and gut disturbances. Whole-exome
Ahmad Alodaib, Nara Sobreira, Wendy A Gold   +2 more
exaly   +3 more sources

Epigenetic modulation of β cells by interferon-α via PNPT1/mir-26a/TET2 triggers autoimmune diabetes

JCI Insight, 2019
Type 1 diabetes (T1D) is caused by autoimmune destruction of pancreatic β cells. Mounting evidence supports a central role for β cell alterations in triggering the activation of self-reactive T cells in T1D. However, the early deleterious events that occur in β cells, underpinning islet autoimmunity, are not known.
Yaron Tomer
exaly   +3 more sources

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Is PNPT1‐related hearing loss ever non‐syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1‐related disorders

American Journal of Medical Genetics Part A, 2018
PNPT1 is a mitochondrial RNA transport protein that has been linked to two discrete phenotypes, namely isolated sensorineural hearing loss (OMIM 614934) and combined oxidative phosphorylation deficiency (OMIM 614932). The latter has been described in multiple families presenting with complex neurologic manifestations in childhood.
Alison Eaton, Francois P. Bernier, Caitlin Goedhart, Oana Caluseriu, Ryan E. Lamont, Kym M. Boycott, Jillian S. Parboosingh, A. Micheil Innes   +7 more
openaire   +2 more sources

[Role of PNPT1 in cardiomyocyte apoptosis induced by oxygen-glucose deprivation].

Nan fang yi ke da xue xue bao = Journal of Southern Medical University, 2022
To explore the effect of inhibiting polyribonucleotide nucleotidyl-transferase 1 (PNPT1) on oxygen-glucose deprivation (OGD)-induced apoptosis of mouse atrial myocytes.Cultured mouse atrial myocytes (HL-1 cells) with or without OGD were transfected with PNPT1-siRNA or a negative control siRNA (NC-siRNA group), and the cell survival rate was detected ...
X, Zhang, X, Wang, Q, Li, Y, Chen, X, Zhang, P, Wang, M, Yuan, H, Pei   +7 more
openaire   +1 more source

Crystallographic modeling of the PNPT1:c.1453A>G variant as a cause of mitochondrial dysfunction and autosomal recessive deafness; expanding the neuroimaging and clinical features

Mitochondrion, 2021
Deficiency of the proteins involved in oxidative phosphorylation (OXPHOS) can lead to mitochondrial dysfunction. Polyribonucleotide nucleotidyltransferase 1 (PNPT1) is one of the genes involved in the OXPHOS and encodes the mitochondrial polynucleotide phosphorylase (PNPase) which is implicated in RNA-processing exoribonuclease activity.
Ali Hosseini Bereshneh, Zahra Rezaei, Ehsan Jafarinia, Fatemeh Rajabi, Mahmoud Reza Ashrafi, Ali Reza Tavasoli, Masoud Garshasbi   +6 more
openaire   +2 more sources

Inhibiting Mitochondrial RNA Degradosome Complex SUV3 and PNPT1 Increases dsRNA in the Cytoplasm, Triggers Viral Mimicry Response and Sensitizes AML Cells to Immune Mediated Killing

Blood, 2023
Eukaryotic cells have two separate genomes; nuclear DNA organized in chromosomes, and circular mitochondrial DNA located within mitochondria. Mitochondrial DNA is comprised of a double-stranded circular genome that is 16.6 kB in length, lacks introns, and encodes two rRNAs, 22 t-RNAs and 13 of the 90 proteins in the mitochondrial ...
Geethu Emily Thomas, Kazem Nouri, Jong Bok Lee, Rose Hurren, Yongran Yan, Neil Maclean, Yulia Jitkova, Li Ma, Xiaoming Wang, Chaitra Sarathy, Andrea Arruda, Mark D. Minden, Li Zhang, Vito Spadavecchio, Aaron D. Schimmer   +14 more
openaire   +1 more source

PNPT1 , MYO15A , PTPRQ , and SLC12A2 ‐associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India

Annals of Human Genetics, 2021
Abstract The study was conducted between 2018 and 2020. From a cohort of 113 hearing impaired (HI), five non‐DFNB12 probands identified with heterozygous CDH23 variants were subjected to exome analysis.
Paridhy Vanniya. S, Jayasankaran Chandru, Justin Margret Jeffrey, Tom Rabinowitz, Zippora Brownstein, Mathuravalli Krishnamoorthy, Karen B. Avraham, Le Cheng, Noam Shomron, C. R. Srikumari Srisailapathy   +9 more
openaire   +1 more source

Acute lymphoblastic leukemia-derived dendritic cells express tumor associated antigens: PNPT1, PMPCB, RHAMM, BSG and ERCC1.

Neoplasma, 2009
In all types of leukemia both in children and adults there is a need for novel therapies that could reduce the risk of relapse after standard treatment. Acute lymphoblastic leukemia (ALL) cells are ineffective antigen presenting cells, but as shown by many authors including results from our laboratory, stimulation with CD40L restores their antigen ...
W, Luczynski, O, Kowalczuk, A, Stasiak-Barmuta, E, Ilendo, M, Krawczuk-Rybak, L, Chyczewski   +5 more
exaly   +4 more sources