Abnormal Processing of Autophagosomes in Transformed B Lymphocytes from SCARB2-Deficient Subjects

Mutations of the intrinsic lysosomal membrane protein SCARB2 cause action myoclonus-renal failure syndrome (AMRF syndrome), a rare disease characterized by renal and neurological manifestations. In this study, examination of Cos7 cells transfected with SCARB2 cDNA derived from two patients with AMRF...

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Detalles Bibliográficos
Autores principales: Gleich, Kurt, Desmond, Michael J., Lee, Darren, Berkovic, Samuel F., Dibbens, Leanne M., Katerelos, Marina, Bayly, Marta A., Fraser, Scott A., Martinello, Paul, Vears, Danya F., Mount, Peter, Power, David A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mary Ann Liebert, Inc. 2013
Materias:
Original Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3569928/
https://www.ncbi.nlm.nih.gov/pubmed/23515316
http://dx.doi.org/10.1089/biores.2012.0265

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3569928/
https://www.ncbi.nlm.nih.gov/pubmed/23515316
http://dx.doi.org/10.1089/biores.2012.0265

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