NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann‐Pick type C patient-Reference-Cited by-同舟云学术

NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann‐Pick type C patient

Published:2020-09-15 Issue:11 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Encarnação Marisa¹²³^ORCID,Coutinho Maria Francisca¹³^ORCID,Cho Soo Min⁴^ORCID,Cardoso Maria Teresa⁵^ORCID,Ribeiro Isaura⁶⁷⁸^ORCID,Chaves Paulo⁵^ORCID,Santos Juliana Inês¹^ORCID,Quelhas Dulce⁶⁷⁸^ORCID,Lacerda Lúcia⁶⁷⁸^ORCID,Leão Teles Elisa⁵^ORCID,Futerman Anthony H.⁴,Vilarinho Laura¹²³^ORCID,Alves Sandra¹³^ORCID

Affiliation:

1. Research & Development Unit Human Genetics Department National Institute of Health Doutor Ricardo Jorge Porto Portugal

2. Newborn Screening Metabolism & Genetics Unit Human Genetics Department National Institute of Health Doutor Ricardo Jorge Porto Portugal

3. Center for the Study of Animal Science CECA‐ICETAUniversity of Porto Porto Portugal

4. Department of Biomolecular Sciences Weizmann Institute of Science Rehovot Israel

5. Centro de Referência de Doenças Metabólicas do Centro Hospitalar Universitário São João Porto Portugal

6. Unidade de Bioquímica Genética Centro de Genética Médica Jacinto Magalhães ‐ Centro Hospitalar e Universitário do Porto (CHP) Porto Portugal

7. Clinical and Experimental Human Genomics group (CEHG) UMIB‐Unit for Multidisciplinary Research in BiomedicineICBASUniversity of Porto Porto Portugal

8. MetabERN‐European Reference Network for Rare Hereditary Metabolic Disorder Reference Centre for Diagnosis and Treatment ‐ CHP Porto Portugal

Funder

Fundação para a Ciência e a Tecnologia

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1451

Reference40 articles.

1. Intestinal Dipeptidyl Peptidase IV Is Efficiently Sorted to the Apical Membrane through the Concerted Action of N- andO-Glycans as Well as Association with Lipid Microdomains

2. Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis