N ‐glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency-Reference-Cited by-同舟云学术

N ‐glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency

Published:2020-09-14 Issue:6 Volume:43 Page:1370-1381
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Park Julien H.¹²^ORCID,Mealer Robert G.³⁴⁵^ORCID,Elias Abdallah F.⁶⁷^ORCID,Hoffmann Susanne⁸,Grüneberg Marianne²,Biskup Saskia⁹,Fobker Manfred¹⁰,Haven Jaclyn⁶,Mangels Ute²,Reunert Janine²,Rust Stephan²,Schoof Jonathan⁶,Schwanke Corbin⁶,Smoller Jordan W.³⁴^ORCID,Cummings Richard D.⁵^ORCID,Marquardt Thorsten²^ORCID

Affiliation:

1. Department of Clinical Sciences, Neurosciences Umeå University Umeå Sweden

2. Department of General Pediatrics University of Münster Münster Germany

3. Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital Harvard Medical School Boston Massachusetts USA

4. The Stanley Center for Psychiatric Research at Broad Institute of Harvard/MIT Cambridge Massachusetts USA

5. National Center for Functional Glycomics, Department of Surgery, Beth Israel Deaconess Medical Center Harvard Medical School Boston Massachusetts USA

6. Department of Medical Genetics Shodair Children's Hospital Helena Montana USA

7. Division of Medical Genetics, Department of Pediatrics University of Utah Salt Lake City Utah USA

8. Zentrum für Sozial‐ und Neuropädiatrie Vivantes Klinikum Neukölln Berlin Germany

9. CeGAT GmbH and Praxis für Humangenetik Tübingen Tübingen Germany

10. Center for Laboratory Medicine University Hospital Münster Münster Germany

Funder

Stanley Center for Psychiatric Research, Broad Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12306

Reference35 articles.

1. Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

2. SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

3. A missense variant in SLC39A8 is associated with severe idiopathic scoliosis

4. Using phenome-wide association to investigate the function of a schizophrenia risk locus at SLC39A8

5. A Pleiotropic Missense Variant in SLC39A8 Is Associated With Crohn’s Disease and Human Gut Microbiome Composition

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