A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis

A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis

Introduction: Monoallelic variants in the ALG5 gene encoding asparagine-linked glycosylation protein 5 homolog (ALG5) have been recently shown to disrupt polycystin-1 (PC1) maturation and trafficking via underglycosylation, causing an autosomal dominant polycystic kidney disease-like (ADPKD-like) ph...

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Main Authors: Elhussein A.E. Elhassan, Tereza Kmochová, Katherine A. Benson, Neil K. Fennelly, Veronika Barešová, Kendrah Kidd, Brendan Doyle, Anthony Dorman, Martina M. Morrin, Niamh C. Kyne, Petr Vyleťal, Hana Hartmannová, Kateřina Hodaňová, Jana Sovová, Dita Mušálková, Alena Vrbacká, Anna Přistoupilová, Jan Živný, Klára Svojšová, Martin Radina, Viktor Stránecký, Dmitry Loginov, Petr Pompach, Petr Novák, Zdislava Vaníčková, Hana Hansíková, Silvie Rajnochová-Bloudíčková, Ondřej Viklický, Helena Hůlková, Gianpiero L. Cavalleri, Aleš Hnízda, Anthony J. Bleyer, Stanislav Kmoch, Peter J. Conlon, Martina Živná
Format: Article
Language:English
Published: Elsevier 2024-07-01
Series:Kidney International Reports
Subjects:
ALG5
autosomal-dominant polycystic kidney disease
autosomal dominant tubulo-interstitial kidney disease
Golgi apparatus
N-Linked protein glycosylation
UMOD
Online Access:http://www.sciencedirect.com/science/article/pii/S2468024924016541
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