Pathogenity of some limb girdle muscular dystrophy mutations can result from reduced anchorage to myofibrils and altered stability of calpain 3

Human Molecular Genetics

Volumn 20, Issue 17, 2011, Pages 3331-3345

  Ermolova, Natalia ^a,c   Kudryashova, Elena ^a,c   Difranco, Marino ^b,c   Vergara, Julio ^b,c   Kramerova, Irina ^a,c   Spencer, Melissa J ^a,c  

^a Department of Neurology ^*  (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINOPEPTIDASE; ANTIPAIN; APROTININ; ASPARTIC PROTEINASE; BESTATIN; CALPAIN 3; CHYMOSTATIN; CHYMOTRYPSIN; COMPLEMENTARY DNA; CONNECTIN; CYSTEINE PROTEINASE; EDETIC ACID; EXOPEPTIDASE; GREEN FLUORESCENT PROTEIN; LEUPEPTIN; MESSENGER RNA; METALLOPROTEINASE; MYOSIN; N [N (3 CARBOXYOXIRANE 2 CARBONYL)LEUCYL]AGMATINE; PAPAIN; PEPSTATIN; PHOSPHORAMIDON; PLASMIN; SERINE PROTEINASE; TRYPSIN;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME INHIBITION; ENZYME STRUCTURE; FAST MUSCLE FIBER; GRIP STRENGTH; IN VITRO STUDY; IN VIVO STUDY; KNOCKOUT MOUSE; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MISSENSE MUTATION; MOUSE; MUSCLE FIBRIL; MUSCLE STRENGTH; NONHUMAN; PATHOGENICITY; POINT MUTATION; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DEGRADATION; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN PHOSPHORYLATION; PROTEIN STABILITY; SKELETAL MUSCLE; SLOW MUSCLE FIBER; STABLE EXPRESSION; STRUCTURE ANALYSIS; TRANSGENIC MOUSE;

ANIMALS; BLOTTING, WESTERN; CALPAIN; IMMUNOHISTOCHEMISTRY; MALE; MICE; MICE, TRANSGENIC; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; MUTATION, MISSENSE; MYOFIBRILS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

HEXAPODA; MUS MUSCULUS;

EID: 80051703420     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr239     Document Type: Article

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