日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Heterozygous PNPT1 Variants Cause a Sensory Ataxic Neuropathy

PNPT1杂合变异导致感觉性共济失调神经病

Haddad, Saif; Record, Christopher J; Self, Eleanor; Skorupinska, Mariola; Rossor, Alexander M; Laura, Matilde; Ingle, Gordon; Manzur, Adnan; Muntoni, Francesco; Blake, Julian C; Reilly, Mary M

A novel polyribonucleotide nucleotidyltransferase 1 (PNPT1) gene variant potentially associated with combined oxidative phosphorylation deficiency 13: case report and literature review

一种新型多核糖核苷酸核苷酸转移酶1 (PNPT1) 基因变异可能与联合氧化磷酸化缺陷13相关:病例报告及文献综述

Li, Yan-Yan; Gao, Yan; Zhong, Xiong-Xiong; Chen, Guang-Fu

PNPT1 Spectrum Disorders: An Underrecognized and Complex Group of Neurometabolic Disorders

PNPT1谱系障碍:一组未被充分认识且复杂的神经代谢疾病

Sgobbi, Paulo; Farias, Igor Braga; Serrano, Paulo de Lima; Badia, Bruno de Mattos Lombardi; Oliveira, Hélvia Bertoldo de; Barbosa, Alana Strucker; Pereira, Camila Alves; Moreira, Vanessa de Freitas; Chieia, Marco Antônio Troccoli; Barbosa, Adriel Rêgo; Fraiman, Pedro Henrique Almeida; Braga, Vinícius Lopes; Machado, Roberta Ismael Lacerda; Calegaretti, Sophia Luiz; Fernandes, Isabela Danziato; Ribeiro, Roberta Correa; Orsini Neves, Marco Antonio; Pinto, Wladimir Bocca Vieira de Rezende; Oliveira, Acary Souza Bulle

Pnpt1 mediates NLRP3 inflammasome activation by MAVS and metabolic reprogramming in macrophages

Pnpt1通过MAVS介导NLRP3炎症小体的激活以及巨噬细胞的代谢重编程

Chia George Hsu # ,Wenjia Li # ,Mark Sowden ,Camila Lage Chávez ,Bradford C Berk

Human PNPase causes RNA stabilization and accumulation of R-loops in the Escherichia coli model system

人源PNPase在大肠杆菌模型系统中导致RNA稳定和R环积累。

Federica A Falchi #,Francesca Forti #,Cristina Carnelli,Aurelia Genco,Roberto Pizzoccheri,Caterina Manzari,Giulio Pavesi,Federica Briani

The FASTK family proteins fine-tune mitochondrial RNA processing

FASTK 家族蛋白微调线粒体 RNA 加工

Akira Ohkubo, Lindsey Van Haute, Danielle L Rudler, Maike Stentenbach, Florian A Steiner, Oliver Rackham, Michal Minczuk, Aleksandra Filipovska, Jean-Claude Martinou

Analysis of host microRNA function uncovers a role for miR-29b-2-5p in Shigella capture by filopodia

宿主 microRNA 功能分析揭示 miR-29b-2-5p 在丝状伪足捕获志贺氏菌中的作用

Ushasree Sunkavalli, Carmen Aguilar, Ricardo Jorge Silva, Malvika Sharan, Ana Rita Cruz, Caroline Tawk, Claire Maudet, Miguel Mano, Ana Eulalio

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

全外显子组测序鉴定出PNPT1基因中的新变异,这些变异导致氧化磷酸化缺陷和严重的全身性疾病。

Alodaib, Ahmad; Sobreira, Nara; Gold, Wendy A; Riley, Lisa G; Van Bergen, Nicole J; Wilson, Meredith J; Bennetts, Bruce; Thorburn, David R; Boehm, Corinne; Christodoulou, John

Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency

PNPT1基因编码一种多核糖核苷酸核苷酸转移酶,该基因突变会损害RNA输入线粒体,导致呼吸链功能障碍。

Vedrenne, Vanessa; Gowher, Ali; De Lonlay, Pascale; Nitschke, Patrick; Serre, Valérie; Boddaert, Nathalie; Altuzarra, Cecilia; Mager-Heckel, Anne-Marie; Chretien, Florence; Entelis, Nina; Munnich, Arnold; Tarassov, Ivan; Rötig, Agnès