Murray, Lydia S

Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke. [electronic resource] - Human molecular genetics Jan 2014 - 283-92 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1460-2083

10.1093/hmg/ddt418 doi


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