De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke-Reference-Cited by-同舟云学术

De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke

Published:2024-02 Issue:2 Volume:26 Page:101013
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Brunet Theresa^ORCID,Zott Benedikt,Lieftüchter Victoria,Lenz Dominic,Schmidt Axel,Peters Philipp,Kopajtich Robert,Zaddach Malin,Zimmermann Hanna,Hüning Irina,Ballhausen Diana,Staufner Christian,Bianzano Alyssa,Hughes Joanne,Taylor Robert W.,McFarland Robert,Devlin Anita,Mihaljević Mihaela,Barišić Nina,Rohlfs Meino,Wilfling Sibylle,Sondheimer Neal,Hewson Stacy,Marinakis Nikolaos M.,Kosma Konstantina,Traeger-Synodinos Joanne,Elbracht Miriam,Begemann Matthias,Trepels-Kottek Sonja,Hasan Dimah,Scala Marcello,Capra Valeria,Zara Federico,van der Ven Amelie T.,Driemeyer Joenna,Apitz Christian,Krämer Johannes,Strong Alanna,Hakonarson Hakon,Watson Deborah,Mayr Johannes A.,Prokisch Holger,Meitinger Thomas,Borggraefe Ingo,Spiegler Juliane,Baric Ivo,Paolini Marco,Gerstl Lucia,Wagner Matias

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference33 articles.

1. The ubiquitin system;Hershko;Annu Rev Biochem,1998

2. Moyamoya disease factor RNF213 is a giant E3 ligase with a dynein-like core and a distinct ubiquitin-transfer mechanism;Ahel;eLife,2020

3. Ubiquitylation of lipopolysaccharide by RNF213 during bacterial infection;Otten;Nature,2021

4. Probing the global cellular responses to lipotoxicity caused by saturated fatty acids;Piccolis;Mol Cell,2019

5. The AAA+ ATPase/ubiquitin ligase mysterin stabilizes cytoplasmic lipid droplets;Sugihara;J Cell Biol,2019

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Comprehensive Serum Proteomic and Metabolomic Profiles of Pediatric Patients with Moyamoya Disease Reveal Core Pathways;Journal of Inflammation Research;2024-09

2. Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion;American Journal of Medical Genetics Part A;2024-07-19

3. Identification of lysosome-related hub genes as potential biomarkers and immune infiltrations of moyamoya disease by multiple bioinformatics methods and machine-learning strategies;Heliyon;2024-07

4. The Applied Genomics Development Strategy by the Croatian Academy of Sciences and Arts paves the way for the future development of applied genomics in Croatia;Croatian Medical Journal;2024-06