Biallelic USP14 variants cause a syndromic neurodevelopmental disorder-Reference-Cited by-同舟云学术

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Biallelic USP14 variants cause a syndromic neurodevelopmental disorder

Published:2024-06 Issue:6 Volume:26 Page:101120
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Ebstein Frédéric^ORCID,Latypova Xenia,Sharon Hung Ka Ying,Prado Miguel A.,Lee Byung-Hoon,Möller Sophie,Wendlandt Martin,Zieba Barbara A.,Florenceau Laëtitia,Vignard Virginie,Poirier Léa,Toutain Bérénice,Moroni Isabella,Dubucs Charlotte,Chassaing Nicolas,Horvath Judit,Prokisch Holger,Küry Sébastien,Bézieau Stéphane,Paulo Joao A.,Finley Daniel,Krüger Elke,Ghezzi Daniele,Isidor Bertrand

Funder

National Institutes of Health

Horizon 2020

European Cooperation in Science and Technology

German Research Foundation

Ministero della Salute

National Research Foundation of Korea

Instituto de Salud Carlos III

Bundesministerium fur Bildung und Forschung Dienststelle Berlin

Nantes Université

Publisher

Elsevier BV

Reference40 articles.

1. Inhibitors of the proteasome block the degradation of most cell proteins and the generation of peptides presented on MHC class I molecules;Rock;Cell,1994

2. Regulation of ubiquitin-dependent processes by deubiquitinating enzymes;Wilkinson;FASEB J,1997

3. A novel active site-directed probe specific for deubiquitylating enzymes reveals proteasome association of USP14;Borodovsky;EMBO J,2001

4. Identification of a 26S proteasome-associated UCH in fission yeast;Li;Biochem Biophys Res Commun,2000

5. Role of Rpn11 metalloprotease in deubiquitination and degradation by the 26S proteasome;Verma;Science,2002

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