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

Human Molecular Genetics

Volumn 23, Issue 2, 2014, Pages 283-292

  Murray, Lydia S ^a   Lu, Yinhui ^b   Taggart, Aislynn ^a   van Regemorter, Nicole ^c   Vilain, Catheline ^c   Abramowicz, Marc ^c   Kadler, Karl E ^b   van Agtmael, Tom ^a  

^a UNIVERSITY OF GLASGOW   (United Kingdom)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

^c UNIVERSITÉ LIBRE DE BRUXELLES   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVATING TRANSCRIPTION FACTOR 4; ACTIVATING TRANSCRIPTION FACTOR 6; CHAPERONE; COLLAGEN TYPE 4; COLLAGEN TYPE 4 ALPHA 2; HEAT SHOCK PROTEIN 47; INITIATION FACTOR 2ALPHA; PROTEIN DISULFIDE ISOMERASE; UNCLASSIFIED DRUG; X BOX BINDING PROTEIN 1;

APOPTOSIS; ARTICLE; AUTOPHAGY; BASEMENT MEMBRANE; BRAIN HEMORRHAGE; CELL PROLIFERATION; CONTROLLED STUDY; DISEASE COURSE; ENDOPLASMIC RETICULUM; ENDOPLASMIC RETICULUM STRESS; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN TISSUE; INTRACELLULAR MEMBRANE; PHENOTYPE; PORENCEPHALY; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN PHOSPHORYLATION; SKIN BIOPSY; SKIN FIBROBLAST; UBIQUITINATION; UNFOLDED PROTEIN RESPONSE;

APOPTOSIS; BASEMENT MEMBRANE; BRAIN DISEASES; CELL PROLIFERATION; CELLS, CULTURED; COLLAGEN TYPE IV; ENDOPLASMIC RETICULUM STRESS; FEMALE; HEMIPLEGIA; HUMANS; INTRACRANIAL HEMORRHAGES; MALE; MUTATION; PHENOTYPE; PHENYLBUTYRATES; PROTEASOME ENDOPEPTIDASE COMPLEX; STROKE;

EID: 84903545868     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt418     Document Type: Article

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