Results 11 to 20 of about 3,855 (167)

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

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

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   +2 more sources

Multilayered proteomics reveals that JAM-A promotes breast cancer progression via regulation of amino acid transporter LAT1. [PDF]

Cancer Sci
We uncovered junctional adhesion molecule‐A (JAM‐A), one of the transmembrane‐type tight junction proteins (TJPs), promoted breast cancer progression via regulation of amino acid transporter LAT1 using multilayered proteomics. Our findings provide a new insight into a therapeutic strategy, JAM‐A‐targeted therapy ideally combined with LAT1‐targeted ...
Magara K, Takasawa A, Takasawa K, Aoyama T, Ota M, Kyuno D, Ono Y, Murakami T, Yamamoto S, Nakamori Y, Nakahashi N, Kutomi G, Takemasa I, Hasegawa T, Osanai M.   +14 more
europepmc   +2 more sources

High-quality genome of a novel Thermosynechococcaceae species from Namibia and characterization of its protein expression patterns at elevated temperatures. [PDF]

Microbiologyopen
In this study, the genome of a new thermophilic cyanobacterium, Thermosynechococcaceae cyanobacterium sp. Okahandja, isolated from a hot spring near Okahandja in Namibia, was sequenced. Additionally, cultivations were conducted at elevated temperatures of 40, 50, and 55°C, followed by analyses of the respective adapted proteomes based on the annotated ...
Arnold ND, Paper M, Fuchs T, Ahmad N, Jung P, Lakatos M, Rodewald K, Rieger B, Qoura F, Kandawa-Schulz M, Mehlmer N, Brück TB.   +11 more
europepmc   +2 more sources

Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies [PDF]

, 2022
The genetic interferonopathies are a heterogeneous group of disorders thought to be caused by the dysregulated expression of interferons and are now commonly considered in the differential diagnosis of children presenting with recurrent or persistent ...
Benjamin, P, Boddaert, N, Carney, O, D'Arco, F, Eleftheriou, D, Hemingway, C, Lobel, U, Mankad, K, Roux, C-J, Sudhakar, S   +9 more
core   +1 more source

Downregulation of LRP/LR with siRNA inhibits several cancer hallmarks in lung cancer cells

FEBS Open Bio, Volume 13, Issue 2, Page 323-340, February 2023., 2023
LRP/LR is overexpressed in many cancer cell types and is associated with various cancer‐promoting processes. In this study, we downregulated LRP/LR in lung cancer cells and showed that this strategy has a four‐fold function in impeding key cancer hallmarks in the lung cancer cells, which therefore has the potential for improving the prognosis of those ...
Monique J. Bignoux, Tyrone C. Otgaar, Martin Bernert, Stefan F. T. Weiss, Eloise Ferreira   +4 more
wiley   +1 more source

Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25

Annals of Neurology, Volume 92, Issue 1, Page 122-137, July 2022., 2022
Objective Dominant spinocerebellar ataxias (SCA) are characterized by genetic heterogeneity. Some mapped and named loci remain without a causal gene identified. Here we applied next generation sequencing (NGS) to uncover the genetic etiology of the SCA25 locus.
Mathieu Barbier, Melanie Bahlo, Alessandra Pennisi, Maxime Jacoupy, Rick M. Tankard, Claire Ewenczyk, Kayli C. Davies, Patricia Lino‐Coulon, Claire Colace, Haloom Rafehi, Nicolas Auger, Brendan R. E. Ansell, Ivo van der Stelt, Katherine B. Howell, Marie Coutelier, David J. Amor, Emeline Mundwiller, Lena Guillot‐Noël, Elsdon Storey, R. J. McKinlay Gardner, Mathew J. Wallis, Alfredo Brusco, Olga Corti, Agnès Rötig, Richard J. Leventer, Alexis Brice, Martin B. Delatycki, Giovanni Stevanin, Paul J. Lockhart, Alexandra Durr   +29 more
wiley   +1 more source

Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndrome

Journal of Inherited Metabolic Disease, Volume 45, Issue 2, Page 292-307, March 2022., 2022
Abstract SUPV3L1 encodes a helicase that is mainly localized in the mitochondria. It has been shown in vitro to possess both double‐stranded RNA and DNA unwinding activity that is ATP‐dependent. Here we report the first two patients for this gene who presented with a homozygous preliminary stop codon resulting in a C‐terminal truncation of the SUPV3L1 ...
Selma L. van Esveld, Richard J. Rodenburg, Fathiya Al‐Murshedi, Eiman Al‐Ajmi, Sana Al‐Zuhaibi, Martijn A. Huynen, Johannes N. Spelbrink   +6 more
wiley   +1 more source

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

Current Medical Science, 2022
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 ...
Qing-gang Hu, Zhi Yang, Jia-wei Chen, Gallina Kazobinka, L. Tian, Wen-cheng Li   +5 more
semanticscholar   +1 more source