The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann-Pick type C patients carrying missense mutations.

Macías-Vidal, Judit; Girós, Marisa; Guerrero, Martina; Gascón, Pere; Serratosa, Joan; Bachs, Oriol; Coll, Maria Josep

Macías-Vidal, Judit; Girós, Marisa; Guerrero, Martina; Gascón, Pere; Serratosa, Joan; Bachs, Oriol; Coll, Maria Josep.

Affiliation

Macías-Vidal J; Secció d'Errors Congènits del Metabolisme (IBC), Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Barcelona, Spain; CIBER de Enfermedades Raras (CIBERER), Barcelona, Spain; IDIBAPS, Barcelona, Spain.

FEBS J ; 281(19): 4450-66, 2014 Oct.

Article in En | MEDLINE | ID: mdl-25131710

Subject(s)

Boronic Acids/pharmacology; Cholesterol/metabolism; Fibroblasts/metabolism; Mutation, Missense; Niemann-Pick Disease, Type C/genetics; Proteasome Inhibitors/pharmacology; Pyrazines/pharmacology; Bortezomib; Carrier Proteins/genetics; Carrier Proteins/metabolism; Cells, Cultured; Endosomes/metabolism; Fibroblasts/drug effects; Humans; Intracellular Signaling Peptides and Proteins; Leupeptins/pharmacology; Membrane Glycoproteins/genetics; Membrane Glycoproteins/metabolism; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C/pathology; Proteasome Endopeptidase Complex/metabolism; Protein Stability; Protein Transport; Proteolysis

Key words

NPC1 protein; Niemann-Pick type C disease; bortezomib; missense mutations; proteasome inhibitors

Fulltext

Add to My VHL

XML

PubMed Links

Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pyrazines / Boronic Acids / Cholesterol / Mutation, Missense / Niemann-Pick Disease, Type C / Fibroblasts / Proteasome Inhibitors Limits: Humans Language: En Journal: FEBS J Journal subject: BIOQUIMICA Year: 2014 Document type: Article Affiliation country: Spain Country of publication: United kingdom

Fulltext

Add to My VHL

XML

PubMed Links

Search on Google