D‐2‐hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants-Reference-Cited by-同舟云学术

D‐2‐hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants

Published:2019-04-13 Issue:7 Volume:40 Page:975-982
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Pop Ana¹^ORCID,Struys Eduard A.¹,Jansen Erwin E. W.¹,Fernandez Matilde R.¹,Kanhai Warsha A.¹,Dooren Silvy J. M.¹,Ozturk Senay¹,Oostendorp Justin¹,Lennertz Pascal¹,Kranendijk Martijn¹,Knaap Marjo S.²³,Gibson K. Michael⁴,Schaftingen Emile⁵⁶,Salomons Gajja S.¹⁷

Affiliation:

1. Metabolic Unit, Department of Clinical Chemistry Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism Amsterdam The Netherlands

2. Department of Child Neurology Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam and Amsterdam Neuroscience Amsterdam The Netherlands

3. Department of Functional Genomics Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, Vrije Universiteit Amsterdam Amsterdam The Netherlands

4. Department of Pharmacotherapy College of Pharmacy and Pharmaceutical Sciences, Washington State University Spokane Washington

5. Walloon Excellence in Life Sciences and Biotechnology Brussels Belgium

6. Laboratory of Biochemistry, de Duve Institute, University of Louvain Brussels Belgium

7. Department of Genetic Metabolic Diseases Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism Amsterdam The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23751

Reference25 articles.

1. Identification of a dehydrogenase acting on D-2-hydroxyglutarate

2. A method and server for predicting damaging missense mutations

3. Co-morbidity of Sanfilippo Syndrome type C and d-2-hydroxyglutaric aciduria

4. Detection of variants in SLC6A8 and functional analysis of unclassified missense variants

5. A novel oxidoreductase family sharing a conserved FAD-binding domain

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