Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome-Reference-Cited by-同舟云学术

Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome

Published:2023-02 Issue:2 Volume:25 Page:100323
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Faqeih Eissa A.,Alghamdi Malak Ali,Almahroos Marwa A.,Alharby Essa,Almuntashri Makki,Alshangiti Amnah M.,Clément Prouteau,Calame Daniel G.,Qebibo Leila,Burglen Lydie,Doco-Fenzy Martine,Mastrangelo Mario,Torella Annalaura,Manti Filippo,Nigro Vincenzo,Alban Ziegler,Alharbi Ghadeer Saleh,Hashmi Jamil Amjad,Alraddadi Rawya,Alamri Razan,Mitani Tadahiro,Magalie Barth,Coban-Akdemir Zeynep,Geckinli Bilgen Bilge,Pehlivan Davut,Romito Antonio,Karageorgou Vasiliki,Martini Javier,Colin Estelle,Bonneau Dominique,Bertoli-Avella Aida,Lupski James R.,Pastore Annalisa,Peake Roy W.A.,Dallol Ashraf,Alfadhel Majid,Almontashiri Naif A.M.^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference28 articles.

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4. HECT E3 ubiquitin ligases – emerging insights into their biological roles and disease relevance;Wang;J Cell Sci,2020

5. Physiological functions of the HECT family of ubiquitin ligases;Rotin;Nat Rev Mol Cell Biol,2009

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