Transcriptomics profiling of Niemann-Pick type C patients: activation of the unfold protein response in a specific case

Background: Niemann-Pick type C (NP-C) is a neurodegenerative Lysosomal Storage Disease (LSD) with a heterogeneous clinical presentation secondary to abnormal intracellular accumulation of cholesterol. We have studied a patient with clinical diagnosis of NP-C but presenting inconclusive results rega...

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Detalhes bibliográficos
Autor principal: Encarnação, Marisa (author)
Outros Autores: Coutinho, Maria Francisca (author), Cho, Soo-Min (author), Cardoso, Maria Teresa (author), Chaves, Paulo (author), Gaspar, Paulo (author), Santos, Juliana Inês (author), Ribeiro, Isaura (author), Quelhas, Dulce (author), Lacerda, Lúcia (author), Leão-Teles, Elisa (author), Futerman, Anthony H. (author), Vilarinho, Laura (author), Alves, Sandra (author)
Formato: conferenceObject
Idioma:eng
Publicado em: 2020
Assuntos:
Lysosomal Diseases
Niemann-Pick type C
NGS (Gene panels and RNA-seq)
Doenças Genéticas
Texto completo:http://hdl.handle.net/10400.18/7046
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/7046

Texto Completo

http://hdl.handle.net/10400.18/7046

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