Alternative splicing alterations of Ca2+ handling genes are associated with Ca2+ signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (DM2) myotubes

Neuropathology and Applied Neurobiology

Volumn 40, Issue 4, 2014, Pages 464-476

  Santoro, Massimo ^a   Piacentini, Roberto ^b   Masciullo, Marcella ^b,c   Bianchi, Maria Laura Ester ^b   Modoni, Anna ^b   Podda, Maria Vittoria ^b   Ricci, Enzo ^b   Silvestri, Gabriella ^b   Grassi, Claudio ^b  

^a IRCCS FONDAZIONE DON CARLO GNOCCHI   (Italy)

^b CATHOLIC UNIVERSITY   (Italy)

^c IRCCS SAN RAFFAELE PISANA   (Italy)

Author keywords

Intracellular calcium signals; Myotonic dystrophy; Myotubes; RYR1; SERCA

Indexed keywords

RYANODINE RECEPTOR 1; SARCOPLASMIC RETICULUM CALCIUM TRANSPORTING ADENOSINE TRIPHOSPHATASE; SODIUM CHANNEL NAV1.1; ATP2A1 PROTEIN, HUMAN; CACNA1S PROTEIN, HUMAN; CALCIUM; CALCIUM CHANNEL; RYANODINE RECEPTOR;

ADULT; AGED; ALTERNATIVE RNA SPLICING; ARTICLE; CALCIUM HOMEOSTASIS; CALCIUM SIGNALING; CASE REPORT; CONTROLLED STUDY; GENE EXPRESSION; HUMAN; HUMAN TISSUE; MEMBRANE DEPOLARIZATION; MIDDLE AGED; MUSCLE BIOPSY; MYOTONIC DYSTROPHY; MYOTUBE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SARCOPLASMIC RETICULUM; GENETICS; HOMEOSTASIS; METABOLISM; SKELETAL MUSCLE;

ADULT; AGED; ALTERNATIVE SPLICING; CALCIUM; CALCIUM CHANNELS; CALCIUM SIGNALING; HOMEOSTASIS; HUMANS; MIDDLE AGED; MUSCLE FIBERS, SKELETAL; MYOTONIC DYSTROPHY; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES;

EID: 84896134850     PISSN: 03051846     EISSN: 13652990     Source Type: Journal    
DOI: 10.1111/nan.12076     Document Type: Article

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