Mannosidase I inhibition rescues the human α-sarcoglycan R77C recurrent mutation

Human Molecular Genetics

Volumn 17, Issue 9, 2008, Pages 1214-1221

  Bartoli, Marc ^a   Gicquel, Evelyne ^a   Barrault, Laetitia ^a   Soheili, Tayebeh ^a   Malissen, Marie ^a   Malissen, Bernard ^b   Vincent lacaze, Nathalie ^a   Perez, Norma ^a   Udd, Bjarne ^c   Danos, Olivier ^a   Richard, Isabelle ^a  

^a GÉNÉTHON   (France)

^b CENTRE D IMMUNOLOGIE DE MARSEILLE LUMINY   (France)

^c VAASA CENTRAL HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SARCOGLYCAN; HISTIDINE; MANNOSIDASE; MANNOSIDASE I; MANNOSIDASE I INHIBITOR; MANNOSIDASE INHIBITOR; PARVOVIRUS VECTOR; PROTEASOME INHIBITOR; SARCOGLYCAN; UNCLASSIFIED DRUG; ALKALOID; BENZYLOXYCARBONYLLEUCYL LEUCYL LEUCINE ALDEHYDE; BENZYLOXYCARBONYLLEUCYL-LEUCYL-LEUCINE ALDEHYDE; CYSTEINE; KIFUNENSINE; LEUPEPTIN; MANNOSYL OLIGOSACCHARIDE 1,2 ALPHA MANNOSIDASE; MANNOSYL-OLIGOSACCHARIDE 1,2-ALPHA-MANNOSIDASE;

AMINO ACID SUBSTITUTION; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL MEMBRANE; CELLULAR DISTRIBUTION; COMPLEX FORMATION; CONTROLLED STUDY; DISEASE MODEL; ENDOPLASMIC RETICULUM; ENZYME INHIBITION; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; LIMB GIRDLE MUSCULAR DYSTROPHY; LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2D; MISSENSE MUTATION; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PROCESSING; PROTEIN TRANSPORT; SKELETAL MUSCLE; ANIMAL; ANIMAL MUSCULAR DYSTROPHY; DRUG ANTAGONISM; DRUG EFFECT; FEMALE; GENETICS; METABOLISM; MOUSE MUTANT; MUSCLE; PATHOLOGY; TUMOR CELL LINE; VIROLOGY;

MURINAE; MUS;

ALKALOIDS; ANIMALS; CELL LINE, TUMOR; CYSTEINE; FEMALE; HUMANS; LEUPEPTINS; MANNOSIDASES; MICE; MICE, KNOCKOUT; MUSCLES; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUSCULAR DYSTROPHY, ANIMAL; MUTATION, MISSENSE; PHENOTYPE; PROTEIN TRANSPORT; SARCOGLYCANS;

EID: 42449114511     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddn029     Document Type: Article

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