A Novel Monoallelic

ALG5 Golgi apparatus N-Linked protein glycosylation UMOD autosomal dominant tubulo-interstitial kidney disease autosomal-dominant polycystic kidney disease

Journal

Kidney international reports
ISSN: 2468-0249
Titre abrégé: Kidney Int Rep
Pays: United States
ID NLM: 101684752

Informations de publication

Date de publication:
Jul 2024
Historique:
received: 12 01 2024
revised: 02 04 2024
accepted: 08 04 2024
medline: 31 7 2024
pubmed: 31 7 2024
entrez: 31 7 2024
Statut: epublish

Résumé

Monoallelic variants in the Whole exome and targeted sequencing were used for segregation analysis of available relatives. This was followed by immunohistochemistry examinations of kidney biopsies, and targeted (UMOD, MUC1) and untargeted plasma proteome and N-glycomic studies. We identified a monoallelic ALG5 dysfunction adversely affects maturation and trafficking of N-glycosylated and GPI anchored protein uromodulin, leading to structural and functional changes in the kidney. Our findings confirm ALG5 as a cause of late-onset ADPKD and provide additional insight into the molecular mechanisms of ADPKD-

Identifiants

DOI: 10.1016/j.ekir.2024.04.031 PMID: 39081747 PMC: PMC11284371
pubmed: 39081747
doi: 10.1016/j.ekir.2024.04.031
pii: S2468-0249(24)01654-1
pmc: PMC11284371
doi:

Types de publication

Journal Article

Langues

eng

Pagination

2209-2226

Informations de copyright

© 2024 International Society of Nephrology. Published by Elsevier Inc.

Auteurs

Elhussein A E Elhassan (EAE)

Department of Nephrology and Transplantation, Beaumont Hospital, Dublin, Ireland.
Department of Medicine, Royal College of Surgeons in Ireland, Dublin, Ireland.

Tereza Kmochová (T)

Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.

Katherine A Benson (KA)

School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons, Dublin, Ireland.

Neil K Fennelly (NK)

Department of Pathology, Beaumont Hospital, Dublin, Ireland.

Veronika Barešová (V)

Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.

Kendrah Kidd (K)

Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.
Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.

Brendan Doyle (B)

Department of Pathology, Beaumont Hospital, Dublin, Ireland.

Anthony Dorman (A)

Department of Pathology, Beaumont Hospital, Dublin, Ireland.

Martina M Morrin (MM)

Department of Radiology, Beaumont Hospital and Royal College of Surgeons in Ireland, Dublin, Ireland.

Niamh C Kyne (NC)

Department of Nephrology and Transplantation, Beaumont Hospital, Dublin, Ireland.

Petr Vyleťal (P)

Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.

Hana Hartmannová (H)

Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.

Kateřina Hodaňová (K)

Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.

Jana Sovová (J)

Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.

Dita Mušálková (D)

Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.

Alena Vrbacká (A)

Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.

Anna Přistoupilová (A)

Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.

Jan Živný (J)

Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.

Klára Svojšová (K)

Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.

Martin Radina (M)

Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.

Viktor Stránecký (V)

Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.

Dmitry Loginov (D)

Institute of Microbiology, The Czech Academy of Sciences, Vestec, Czech Republic.

Petr Pompach (P)

Institute of Microbiology, The Czech Academy of Sciences, Vestec, Czech Republic.

Petr Novák (P)

Institute of Microbiology, The Czech Academy of Sciences, Vestec, Czech Republic.

Zdislava Vaníčková (Z)

Institute of Medical Biochemistry and Laboratory Diagnostics of the General University Hospital and of The First Faculty of medicine of Charles University in Prague, Prague, Czech Republic.

Hana Hansíková (H)

Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.

Silvie Rajnochová-Bloudíčková (S)

Department of Nephrology, Transplant Center, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.

Ondřej Viklický (O)

Department of Nephrology, Transplant Center, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.

Helena Hůlková (H)

Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.

Gianpiero L Cavalleri (GL)

School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons, Dublin, Ireland.

Aleš Hnízda (A)

Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.

Anthony J Bleyer (AJ)

Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.
Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.

Stanislav Kmoch (S)

Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.
Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.

Peter J Conlon (PJ)

Department of Nephrology and Transplantation, Beaumont Hospital, Dublin, Ireland.
Department of Medicine, Royal College of Surgeons in Ireland, Dublin, Ireland.

Martina Živná (M)

Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.
Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.

Classifications MeSH