Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications

Human Mutation

Volumn 33, Issue 2, 2012, Pages 429-439

  Soheili, Tayebeh ^a   Gicquel, Evelyne ^a   Poupiot, Jérôme ^a   N'Guyen, Luu ^a   Le Roy, Florence ^a   Bartoli, Marc ^a,b   Richard, Isabelle ^a  

^a GÉNÉTHON   (France)

^b INSERM   (France)

Author keywords

Kifunensine; Lgmd; Limb girdle muscular dystrophy; Sarcoglycan

Indexed keywords

BETA SARCOGLYCAN; DELTA SARCOGLYCAN; GAMMA SARCOGLYCAN; KIFUNENSINE;

ARTICLE; CELL FATE; CELL MEMBRANE; CELL MEMBRANE PERMEABILITY; CELL MIGRATION; CELLULAR DISTRIBUTION; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; GENETIC ASSOCIATION; GENETIC TRANSDUCTION; GENETIC TRANSFECTION; HELA CELL; HUMAN; HUMAN CELL; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEIN MODIFICATION; PROTEIN STRUCTURE; QUALITY CONTROL;

ALKALOIDS; ENDOPLASMIC RETICULUM; ENZYME INHIBITORS; HEK293 CELLS; HELA CELLS; HUMANS; MUTATION; PROTEIN TRANSPORT; SARCOGLYCANOPATHIES; SARCOGLYCANS; SARCOLEMMA;

EID: 84857785009     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21659     Document Type: Article

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