A missense mutation in the catalytic domain of O ‐GlcNAc transferase links perturbations in protein O ‐GlcNAcylation to X‐linked intellectual disability-Reference-Cited by-同舟云学术

A missense mutation in the catalytic domain of O ‐GlcNAc transferase links perturbations in protein O ‐GlcNAcylation to X‐linked intellectual disability

Published:2019-11-07 Issue:4 Volume:594 Page:717-727
ISSN:0014-5793
Container-title:FEBS Letters
language:en
Short-container-title:FEBS Lett

Author:

Pravata Veronica M.¹^ORCID,Gundogdu Mehmet¹,Bartual Sergio G.¹,Ferenbach Andrew T.¹,Stavridis Marios²,Õunap Katrin³⁴,Pajusalu Sander³⁴,Žordania Riina³,Wojcik Monica H.⁵⁶,Aalten Daan M. F.¹^ORCID

Affiliation:

1. Division of Gene Regulation and Expression School of Life Sciences University of Dundee UK

2. Division of Cell and Developmental Biology School of Life Sciences University of Dundee UK

3. Department of Clinical Genetics, United Laboratories Tartu University Hospital Estonia

4. Department of Clinical Genetics Institute of Clinical Medicine University of Tartu Estonia

5. Divisions of Newborn Medicine and Genetics and Genomics Department of Medicine Boston Children’s Hospital Harvard Medical School Boston MA USA

6. Broad Institute of MIT and Harvard Cambridge MA USA

Funder

Wellcome Trust

Publisher

Wiley

Subject

Cell Biology,Genetics,Molecular Biology,Biochemistry,Structural Biology,Biophysics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/1873-3468.13640

Reference59 articles.

1. Prevalence of intellectual disability: A meta-analysis of population-based studies

2. Diagnostic and Statistical Manual of Mental Disorders

3. Autosomal dominant intellectual disability;Wieczorek D;Med Genet,2018

4. Intellectual Disability & Rare Disorders: A Diagnostic Challenge

5. X‐linked intellectual disability update 2017;Neri G;Am J Med Genet,2018

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