A unique missense mutation in the RING domain impairs MID1 E3 ubiquitin ligase activity and localisation and is associated with uncommon Opitz Syndrome-like signs-Reference-Cited by-同舟云学术

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A unique missense mutation in the RING domain impairs MID1 E3 ubiquitin ligase activity and localisation and is associated with uncommon Opitz Syndrome-like signs

Published:2024-04 Issue:4 Volume:1870 Page:167126
ISSN:0925-4439
Container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
language:en
Short-container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Author:

Mascaro Martina,D’Ambrosio Luigi,Lazzari Elisa,Almoguera Berta,Swafiri Saoud Tahsin,Zanchetta Melania Eva,Meroni Germana

Funder

Ministero dell'Istruzione dell'Università e della Ricerca

Jérôme Lejeune Foundation

Ministero della Salute

Publisher

Elsevier BV

Reference15 articles.

1. Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22;Quaderi;Nat. Genet.,1997

2. The tripartite motif family identifies cell compartments;Reymond;EMBO J.,2001

3. MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation;Trockenbacher;Nat. Genet.,2001

4. The MID1 gene product in physiology and disease;Baldini;Gene,2020

5. The MID1 protein is a central player during development and in disease;Winter;Front. Biosci. (Landmark Ed),2016

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