Assessment of predicted enzymatic activity of α‐ N ‐acetylglucosaminidase variants of unknown significance for CAGI 2016-Reference-Cited by-同舟云学术

Assessment of predicted enzymatic activity of α‐ N ‐acetylglucosaminidase variants of unknown significance for CAGI 2016

Published:2019-09 Issue:9 Volume:40 Page:1519-1529
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Clark Wyatt T.¹^ORCID,Kasak Laura²³^ORCID,Bakolitsa Constantina²^ORCID,Hu Zhiqiang²^ORCID,Andreoletti Gaia²^ORCID,Babbi Giulia⁴^ORCID,Bromberg Yana⁵^ORCID,Casadio Rita⁴^ORCID,Dunbrack Roland⁶^ORCID,Folkman Lukas⁷^ORCID,Ford Colby T.⁸^ORCID,Jones David⁹,Katsonis Panagiotis¹⁰^ORCID,Kundu Kunal¹¹¹²^ORCID,Lichtarge Olivier¹⁰¹³¹⁴¹⁵^ORCID,Martelli Pier L.³^ORCID,Mooney Sean D.¹⁶^ORCID,Nodzak Conor⁸,Pal Lipika R.¹¹^ORCID,Radivojac Predrag¹⁷^ORCID,Savojardo Castrense⁴^ORCID,Shi Xinghua⁸,Zhou Yaoqi¹⁸^ORCID,Uppal Aneeta⁸,Xu Qifang⁶,Yin Yizhou¹¹¹²^ORCID,Pejaver Vikas¹⁷¹⁹^ORCID,Wang Meng²⁰,Wei Liping²⁰^ORCID,Moult John¹¹²¹^ORCID,Yu Guoying Karen¹,Brenner Steven E.²^ORCID,LeBowitz Jonathan H.¹^ORCID

Affiliation:

1. Human GeneticsBioMarin Pharmaceutical San Rafael California

2. Department of Plant and Microbial BiologyUniversity of California Berkeley California

3. Department of Biomedicine, Institute of Biomedicine and Translational MedicineUniversity of Tartu Tartu Estonia

4. Biocomputing Group, Department of Pharmacy and BiotechnologyUniversity of Bologna Bologna Italy

5. Department of Biochemistry and MicrobiologyRutgers University New Brunswick New Jersey

6. Institute for Cancer ResearchFox Chase Cancer Center Philadelphia Pennsylvania

7. Machine Learning and Computational Biology Lab, Department of Biosystems Science and EngineeringETH Zurich Switzerland

8. Department of Bioinformatics and GenomicsThe University of North Carolina at Charlotte Charlotte North Carolina

9. Bioinformatics Group, Department of Computer ScienceUniversity College London London UK

10. Department of Molecular and Human GeneticsBaylor College of Medicine Houston Texas

11. Institute for Bioscience and Biotechnology ResearchUniversity of Maryland Rockville Maryland

12. Computational Biology, Bioinformatics and Genomics, Biological Sciences Graduate ProgramUniversity of Maryland College Park Maryland

13. Department of Biochemistry & Molecular BiologyBaylor College of Medicine Houston Texas

14. Department of PharmacologyBaylor College of Medicine Houston Texas

15. Computational and Integrative Biomedical Research CenterBaylor College of Medicine Houston Texas

16. Buck Institute for Research on Aging Novato California

17. Department of Computer ScienceIndiana University Bloomington Indiana

18. Center for Computational Biology and BioinformaticsIndiana University School of Medicine Indianapolis Indiana

19. Department of InformaticsIndiana University Bloomington Indiana

20. Center for Bioinformatics, State Key Laboratory of Protein and Plant Gene Research, School of Life SciencesPeking University Beijing P.R. China

21. Department of Cell Biology and Molecular GeneticsUniversity of Maryland College Park Maryland

Funder

National Health and Medical Research Council

Eesti Teadusagentuur

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23875

Reference36 articles.

1. A method and server for predicting damaging missense mutations

2. Sanfilippo syndrome: Overall review

3. Clearance of Heparan Sulfate and Attenuation of CNS Pathology by Intracerebroventricular BMN 250 in Sanfilippo Type B Mice

4. Structural characterization of the α-N-acetylglucosaminidase, a key enzyme in the pathogenesis of Sanfilippo syndrome B

5. SNAP: predict effect of non-synonymous polymorphisms on function

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