Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke.

Murray, Lydia S; Lu, Yinhui; Taggart, Aislynn; Van Regemorter, Nicole; Vilain, Catheline; Abramowicz, Marc; Kadler, Karl E; Van Agtmael, Tom

Murray, Lydia S; Lu, Yinhui; Taggart, Aislynn; Van Regemorter, Nicole; Vilain, Catheline; Abramowicz, Marc; Kadler, Karl E; Van Agtmael, Tom.

Affiliation

Murray LS; Institute of Cardiovascular and Medical Sciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, UK.

Hum Mol Genet ; 23(2): 283-92, 2014 Jan 15.

Article in En | MEDLINE | ID: mdl-24001601

Subject(s)

Basement Membrane/physiopathology; Brain Diseases/drug therapy; Collagen Type IV/deficiency; Hemiplegia/drug therapy; Intracranial Hemorrhages/drug therapy; Phenylbutyrates/pharmacology; Stroke/drug therapy; Apoptosis/drug effects; Basement Membrane/drug effects; Brain Diseases/genetics; Brain Diseases/pathology; Cell Proliferation/drug effects; Cells, Cultured; Collagen Type IV/genetics; Collagen Type IV/metabolism; Endoplasmic Reticulum Stress/drug effects; Female; Hemiplegia/genetics; Hemiplegia/pathology; Humans; Intracranial Hemorrhages/complications; Intracranial Hemorrhages/genetics; Male; Mutation; Phenotype; Porencephaly; Proteasome Endopeptidase Complex/metabolism; Stroke/complications; Stroke/genetics

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenylbutyrates / Basement Membrane / Brain Diseases / Stroke / Intracranial Hemorrhages / Collagen Type IV / Hemiplegia Type of study: Etiology_studies Limits: Female / Humans / Male Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2014 Type: Article Affiliation country: United kingdom

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