Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin-Reference-Cited by-同舟云学术

Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin

Published:2021-11 Issue:11 Volume:108 Page:2145-2158
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Domingo Aloysius,Yadav Rachita,Shah Shivangi,Hendriks William T.,Erdin Serkan,Gao Dadi,O’Keefe Kathryn,Currall Benjamin,Gusella James F.,Sharma Nutan,Ozelius Laurie J.,Ehrlich Michelle E.,Talkowski Michael E.,Bragg D. Cristopher

Funder

National Institutes of Health

National Institute of Neurological Disorders and Stroke

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference93 articles.

1. Phenomenology and classification of dystonia: a consensus update;Albanese;Mov. Disord.,2013

2. Molecular pathways in dystonia;Bragg;Neurobiol. Dis.,2011

3. Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for Dystonia;Rittiner;Neuron,2016

4. Emerging and converging molecular mechanisms in dystonia;Gonzalez-Latapi;J. Neural Transm. (Vienna),2021

5. Update on the Genetics of Dystonia;Lohmann;Curr. Neurol. Neurosci. Rep.,2017

Cited by 17 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. Deciphering the Pathophysiological Mechanisms Underpinning Myoclonus Dystonia Using Pluripotent Stem Cell-Derived Cellular Models;Cells;2024-09-10

2. Loss-of-function mutations in the dystonia gene THAP1 impair proteasome function by inhibiting PSMB5 expression;2024-06-13

3. The integrated stress response pathway and neuromodulator signaling in the brain: lessons learned from dystonia;Journal of Clinical Investigation;2024-04-01

4. Proteomic analysis of X-linked dystonia parkinsonism disease striatal neurons reveals altered RNA metabolism and splicing;Neurobiology of Disease;2024-01

5. Piecing together a complex puzzle: 5 key challenges in basic dystonia research;Dystonia;2023-12-21