ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines-Reference-Cited by-同舟云学术

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ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines

Published:2024-06 Issue:2 Volume:142 Page:108472
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Shah Rameen,Eklund Erik A.,Radenkovic Silvia,Sadek Mustafa,Shammas Ibrahim,Verberkmoes Sanne,Ng Bobby G.,Freeze Hudson H.,Edmondson Andrew C.,He Miao,Kozicz Tamas,Altassan Ruqaiah,Morava Eva

Funder

NIH

National Institute of Neurological Disorders and Stroke

National Center for Advancing Translational Sciences

Publisher

Elsevier BV

Reference35 articles.

1. De novo mutations in epileptic encephalopathies;Epi4K Consortium; Epilepsy Phenome/Genome Project;Nature,2013

2. ALG13 participates in epileptogenesis via regulation of GABA receptors in mouse models;Huo;Cell Death Dis.,2020

3. Structural analysis of the effect of Asn107Ser mutation on Alg13 activity and Alg13-Alg14 complex formation and expanding the phenotypic variability of ALG13-CDG;Mitusińska;Biomolecules,2022

4. Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N- acetylglucosamine transferase required for the second step of N-linked glycosylation;Gao;J. Biol. Chem.,2005

5. Alg14 organizes the formation of a multiglycosyltransferase complex involved in initiation of lipid-linked oligosaccharide biosynthesis;Lu;Glycobiology,2012

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