JP-45/JSRP1 Variants Affect Skeletal Muscle Excitation-Contraction Coupling by Decreasing the Sensitivity of the Dihydropyridine Receptor

Human Mutation

Volumn 34, Issue 1, 2013, Pages 184-190

  Yasuda, Toshimichi ^a   Delbono, Osvaldo ^b   Wang, Zhong Min ^b   Messi, Maria L ^b   Girard, Thierry ^c   Urwyler, Albert ^c   Treves, Susan ^c,d   Zorzato, Francesco ^c,d  

^a HIROSHIMA UNIVERSITY   (Japan)

^b WAKE FOREST SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY HOSPITAL BASEL   (Switzerland)

^d UNIVERSITY OF FERRARA   (Italy)

Author keywords

Dihydropyridine receptor; JP 45; JSRP1; Skeletal muscle

Indexed keywords

1,4 DIHYDROPYRIDINE RECEPTOR; CALCIUM ION; GENOMIC DNA;

AMINO ACID SEQUENCE; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CALCIUM CELL LEVEL; CALCIUM CURRENT; CONTROLLED STUDY; DNA POLYMORPHISM; EXCITATION CONTRACTION COUPLING; EXON; GENE; GENE FREQUENCY; GENETIC SUSCEPTIBILITY; HUMAN; HUMAN TISSUE; JSRP1 GENE; MALIGNANT HYPERTHERMIA; MOUSE; MYOTUBE; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SARCOPLASMIC RETICULUM; SKELETAL MUSCLE;

ANIMALS; CALCIUM; CALCIUM CHANNELS, L-TYPE; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; EXCITATION CONTRACTION COUPLING; GENE FREQUENCY; HUMANS; MALIGNANT HYPERTHERMIA; MEMBRANE POTENTIALS; MEMBRANE PROTEINS; MICE; MICE, KNOCKOUT; MUSCLE FIBERS, SKELETAL; MUSCLE, SKELETAL; MUTATION, MISSENSE; PATCH-CLAMP TECHNIQUES; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; SARCOPLASMIC RETICULUM;

EID: 84871609091     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22209     Document Type: Article

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