Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta-Reference-Cited by-同舟云学术

Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta

Published:2019-10-14 Issue:1 Volume:41 Page:133-139
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Danyukova Tatyana¹,Ludwig Nataniel F.²³,Velho Renata V.¹,Harms Frederike L.⁴,Güneş Nilay⁵,Tidow Henning⁶,Schwartz Ida V.²³,Tüysüz Beyhan⁵,Pohl Sandra¹^ORCID

Affiliation:

1. Department of Osteology and BiomechanicsUniversity Medical Center Hamburg‐Eppendorf Hamburg Germany

2. Department of GeneticsFederal University of Rio Grande do Sul Porto Alegre Brazil

3. Postgraduation Program in Genetics and Molecular BiologyFederal University of Rio Grande do Sul Porto Alegre Brazil

4. Institute of Human GeneticsUniversity Medical Center Hamburg‐Eppendorf Hamburg Germany

5. Department of Pediatric GeneticsIstanbul University Cerrahpasa, Medicine School Istanbul Turkey

6. The Hamburg Centre for Ultrafast Imaging and Department of Chemistry, Institute for Biochemistry and Molecular BiologyUniversity of Hamburg Hamburg Germany

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23928

Reference33 articles.

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2. Sorting of lysosomal proteins

3. Molecular order in mucolipidosis II and III nomenclature