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

Background: Niemann-Pick type C (NPC, MIM #257220) is a neuro-visceral disease, caused predominantly by pathogenic variants in the NPC1 gene. Here we studied patients with clinical diagnosis of NPC but inconclusive results regarding the molecular analysis. Methods: We used a Next-Generation Sequenci...

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Bibliographic Details
Main Author: Encarnação, Marisa (author)
Other Authors: Coutinho, Maria Francisca (author), Cho, Soo Min (author), Cardoso, Maria Teresa (author), Ribeiro, Isaura (author), Chaves, Paulo (author), Santos, Juliana Inês (author), Quelhas, Dulce (author), Lacerda, Lúcia (author), Leão Teles, Elisa (author), Futerman, Anthony H. (author), Vilarinho, Laura (author), Alves, Sandra (author)
Format: article
Language:eng
Published: 2021
Subjects:
Lysosomal Storage Disorders
Niemann Pick Type C Disease
NPC1
RNA-seq
Exon Skipping
Silent Variant
Unfolded Protein Response
Genómica Funcional
Doenças Genéticas
Online Access:http://hdl.handle.net/10400.18/7365
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/7365

Internet

http://hdl.handle.net/10400.18/7365

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