Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

Nature Genetics

Volumn 44, Issue 4, 2012, Pages 450-455

  Sarparanta, Jaakko ^a   Jonson, Per Harald ^a   Golzio, Christelle ^b   Sandell, Satu ^c,d   Luque, Helena ^a   Screen, Mark ^a   McDonald, Kristin ^b   Stajich, Jeffrey M ^b   Mahjneh, Ibrahim ^e,f   Vihola, Anna ^a   Raheem, Olayinka ^c   Penttilä, Sini ^c   Lehtinen, Sara ^a   Huovinen, Sanna ^c   Palmio, Johanna ^c   Tasca, Giorgio ^g   Ricci, Enzo ^h   Hackman, Peter ^a   Hauser, Michael ^b   Katsanis, Nicholas ^b   Udd, Bjarne ^a,c,i   more..

^a UNIVERSITY OF HELSINKI   (Finland)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

^c TAMPERE UNIVERSITY HOSPITAL   (Finland)

^d SEINÄJOKI CENTRAL HOSPITAL   (Finland)

^e Pietarsaari Hospital   (Finland)

^f UNIVERSITY OF OULU   (Finland)

^g IRCCS FONDAZIONE DON CARLO GNOCCHI   (Italy)

^h CATHOLIC UNIVERSITY   (Italy)

ⁱ VAASA CENTRAL HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

CHAPERONE; DNAJB6 PROTEIN; ISOLEUCINE; LEUCINE; PHENYLALANINE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; COMPLEX FORMATION; CONTROLLED STUDY; CYTOPLASM; CYTOTOXICITY; EMBRYO; FAMILY STRESS; FINLAND; GENE EXPRESSION; GENE FUNCTION; GENETIC ASSOCIATION; HALF LIFE TIME; HUMAN; HUMAN TISSUE; IN VITRO STUDY; IN VIVO STUDY; ITALY; LIMB GIRDLE MUSCULAR DYSTROPHY; MISSENSE MUTATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN INTERACTION; SELECTIVE AUTOPHAGY; UNITED STATES; WILD TYPE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ANIMALS; FINLAND; GENOTYPE; HSP40 HEAT-SHOCK PROTEINS; HUMANS; ITALY; MOLECULAR CHAPERONES; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; UNITED STATES; ZEBRAFISH;

EID: 84859432401     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.1103     Document Type: Article

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