Mutations in the V‐ATPase Assembly FactorVMA21Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease-Reference-Cited by-同舟云学术

Mutations in the V‐ATPase Assembly FactorVMA21Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease

Published:2020-12 Issue:6 Volume:72 Page:1968-1986
ISSN:0270-9139
Container-title:Hepatology
language:en
Short-container-title:Hepatology

Author:

Cannata Serio Magda¹²^ORCID,Graham Laurie A.³,Ashikov Angel⁴⁵,Larsen Lars Elmann⁶³,Raymond Kimiyo⁷,Timal Sharita⁴⁵,Le Meur Gwenn¹,Ryan Margret⁸,Czarnowska Elzbieta⁹,Jansen Jos C.¹⁰,He Miao¹¹¹²,Ficicioglu Can¹³,Pichurin Pavel¹⁴,Hasadsri Linda¹⁵,Minassian Berge¹⁶,Rugierri Alessandra¹⁷¹⁸,Kalimo Hannu¹⁹,Ríos‐Ocampo W. Alfredo⁶,Gilissen Christian²⁰,Rodenburg Richard²¹^ORCID,Jonker Johan W.⁶,Holleboom Adriaan G.³,Morava Eva²²,Veltman Joris A.²³²⁴,Socha Piotr²⁵,Stevens Tom H.⁸,Simons Matias¹²⁶^ORCID,Lefeber Dirk J.⁴⁵^ORCID

Affiliation:

1. Laboratory of Epithelial Biology and Disease Imagine Institute Université Paris Descartes‐Sorbonne Paris Cité Paris France

2. RBIV RNA Biology of Influenza Viruses Unit Institut PasteurCNRS, UMR3569 Paris France

3. Department of Chemistry and Biochemistry Institute of Molecular Biology University of Oregon Eugene OR

4. Department of Neurology Donders Institute for Brain Cognition and Behaviour Radboud University Medical Center Nijmegen the Netherlands

5. Department of Laboratory Medicine Translational Metabolic Laboratory Radboud Institute for Molecular Life SciencesRadboud University Medical Center Nijmegen the Netherlands

6. Department of Laboratory Medicine and Pathology Mayo College of Medicine Rochester MN

7. Department of Pathology The Children’s Memorial Health Institute Warsaw Poland

8. Department of Gastroenterology and Hepatology Translational Metabolic Laboratory Radboud Institute for Molecular Life Sciences Radboud University Medical Center Nijmegen the Netherlands

9. Department of Pathology and Laboratory Medicine University of Pennsylvania Perelman School of Medicine Philadelphia PA

10. Division of Laboratory Medicine The Children’s Hospital of Philadelphia Philadelphia PA

11. Division of Human Genetics Department of Pediatrics The Children’s Hospital of Philadelphia Philadelphia PA

12. Department of Clinical Genomics College of Medicine Mayo Clinic Rochester MN

13. Division of Laboratory Genetics Department of Laboratory Medicine and Pathology Mayo Clinic Rochester MN

14. Department of Human Genetics Radboud Institute for Molecular Life Sciences Radboud University Medical Center Nijmegen the Netherlands

15. Department of Pediatrics Radboudumc Amalia Childrens Hospital Radboud Center for Mitochondrial Medicine Nijmegen the Netherlands

16. Department of Pediatrics University of Texas Southwestern Dallas TX USA

17. Department of Neuroimmunology and Neuromuscular Diseases Fondazione IRCCS Neurological Institute Carlo Besta Milan Italy

18. Department of Molecular and Translation Medicine Unit of Biology and Genetics, University of Brescia Brescia Italy

19. Department of Pathology, Haartman Institute University of Helsinki, FIN–00014 Helsinki Finland

20. Department of Clinical Genomics Mayo Clinic Rochester MN

21. Department of Human Genetics Donders Centre for Neuroscience Radboud University Medical Center Nijmegen the Netherlands

22. Institute of Genetic Medicine International Centre for Life Newcastle University Newcastle upon Tyne United Kingdom

23. Department of Gastroenterology Feeding Disorders and Pediatrics Children’s Memorial Health Institute Warsaw Poland

24. Section of Molecular Metabolism and Nutrition Department of Pediatrics University of Groningen University Medical Center Groningen Groningen the Netherlands

25. Department of Experimental Vascular Medicine Amsterdam University Medical Centers Location AMC Amsterdam the Netherlands

26. Institute of Human Genetics University Hospital Heidelberg Heidelberg Germany

Funder

NIH Clinical Center

Radboud Universitair Medisch Centrum

Agence Nationale de la Recherche

Nederlandse Organisatie voor Wetenschappelijk Onderzoek

Fondation Bettencourt Schueller

Institut National de la Santé et de la Recherche Médicale

Publisher

Wiley

Subject