Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy

Journal of Biological Chemistry

Volumn 287, Issue 22, 2012, Pages 18153-18162

  Acsadi, Gyula ^a,b   Moore, Steven A ^c   Chéron, Angélique ^d,e   Delalande, Olivier ^d,e   Bennett, Lindsey ^f   Kupsky, William ^f   El Baba, Mohammad ^f   Le Rumeur, Elisabeth ^d,e   Hubert, Jean François ^d,e  

^a Farmington   (United States)

^b UNIVERSITY OF CONNECTICUT SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF IOWA   (United States)

^d UNIVERSITÉ DE RENNES 1   (France)

^e UNIVERSITÉ EUROPÉENNE DE BRETAGNE   (France)

^f WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ABDOMINAL PAIN; ACTIN-BINDING DOMAINS; AMINO ACID SUBSTITUTION; BINDING CAPACITIES; COMPUTATIONAL HOMOLOGY; CONFORMATIONAL SPACE; CREATINE KINASE; DYNAMIC PROPERTY; DYSTROPHIN; GENE SEQUENCING; IMMUNOSTAINING; MISFOLDING; MUSCULAR DYSTROPHY; N-TERMINALS; PROTEIN MISFOLDING; REFOLDING; SKELETAL MUSCLE; WILD TYPES;

AMINO ACIDS; COMPUTATIONAL CHEMISTRY; GENES; MOLECULAR DYNAMICS;

PROTEINS;

ACTIN BINDING PROTEIN; AMINO ACID; CREATINE KINASE; CYTOSINE; DYSTROPHIN; LEUCINE; PROLINE; SPECTRIN; THYMINE;

ABDOMINAL PAIN; AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; BECKER MUSCULAR DYSTROPHY; CASE REPORT; CHILD; CIRCULAR DICHROISM; CREATINE KINASE BLOOD LEVEL; DYSTROPHIN GENE; EXON; FLUORESCENCE SPECTROSCOPY; GENE; GENE SEQUENCE; GENETIC CODE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MISSENSE MUTATION; MOLECULAR DYNAMICS; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN DENATURATION; PROTEIN DOMAIN; PROTEIN FOLDING; PROTEIN REFOLDING; PROTEIN STRUCTURE; RECURRENT DISEASE; SCHOOL CHILD; SEQUENCE HOMOLOGY; SKELETAL MUSCLE; WILD TYPE;

AMINO ACID SEQUENCE; CHILD; CIRCULAR DICHROISM; DYSTROPHIN; ELECTROPHORESIS, POLYACRYLAMIDE GEL; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHY, DUCHENNE; MUTATION; PROTEIN DENATURATION; PROTEIN FOLDING; SEQUENCE HOMOLOGY, AMINO ACID; SPECTRIN;

EID: 84861535115     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M111.284521     Document Type: Article

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