Loss of actomyosin regulation in distal arthrogryposis myopathy due to mutant myosin binding protein-C slow.

Ackermann, Maegen A; Patel, Puja D; Valenti, Jane; Takagi, Yasuharu; Homsher, Earl; Sellers, James R; Kontrogianni-Konstantopoulos, Aikaterini

Ackermann, Maegen A; Patel, Puja D; Valenti, Jane; Takagi, Yasuharu; Homsher, Earl; Sellers, James R; Kontrogianni-Konstantopoulos, Aikaterini.

Affiliation

Ackermann MA; Department of Biochemistry and Molecular Biology, University of Maryland School of Medicine, 108 N. Greene St, Baltimore, MD 21201, USA.

FASEB J ; 27(8): 3217-28, 2013 Aug.

Article in En | MEDLINE | ID: mdl-23657818

Subject(s)

Actomyosin/metabolism; Arthrogryposis/metabolism; Carrier Proteins/metabolism; Distal Myopathies/metabolism; Actins/chemistry; Actins/metabolism; Actomyosin/chemistry; Alternative Splicing; Amino Acid Substitution; Animals; Arthrogryposis/genetics; Binding Sites/genetics; Blotting, Far-Western; Carrier Proteins/chemistry; Carrier Proteins/genetics; Distal Myopathies/genetics; Humans; Mice; Models, Biological; Models, Molecular; Muscle, Skeletal/metabolism; Mutation; Myosins/chemistry; Myosins/metabolism; Protein Binding; Protein Structure, Tertiary

Key words

MYBPC1; actin; contractility; skeletal muscle

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arthrogryposis / Actomyosin / Carrier Proteins / Distal Myopathies Limits: Animals / Humans Language: En Journal: FASEB J Journal subject: BIOLOGIA / FISIOLOGIA Year: 2013 Type: Article Affiliation country: United States

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