Alternative splicing alterations of Ca(2+) handling genes are associated with Ca(2+) signal dysregulation in DM1 and DM2 myotubes

Massimo Santoro; Roberto Piacentini; Marcella Masciullo; Maria Laura Ester Bianchi; Anna Modoni; Maria Vittoria Podda; Enzo Ricci; Gabriella Silvestri; Claudio Grassi

doi:10.1111/nan.12076

Alternative splicing alterations of Ca(2+) handling genes are associated with Ca(2+) signal dysregulation in DM1 and DM2 myotubes

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

Research output: Contribution to journal › Article › peer-review

29 Citations (Scopus)

Abstract

The pathogenesis of myotonic dystrophy type 1 (DM1) and type 2 (DM2) has been related to the aberrant splicing of several genes, including those encoding for ryanodine receptor 1 (RYR1), sarcoplasmatic/endoplasmatic Ca(2+) -ATPase (SERCA) and α1S subunit of voltage-gated Ca(2+) channels (Cav 1.1). The aim of this study is to determine whether alterations of these genes are associated with changes in the regulation of intracellular Ca(2+) homeostasis and signaling.

Original language	English
Pages (from-to)	N/A-N/A
Journal	Neuropathology and Applied Neurobiology
DOIs	https://doi.org/10.1111/nan.12076
Publication status	Published - 2013

Keywords

Cav1.1
RYR1
SERCA
intracellular calcium signals
myotonic dystrophy
myotubes

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10.1111/nan.12076

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title = "Alternative splicing alterations of Ca(2+) handling genes are associated with Ca(2+) signal dysregulation in DM1 and DM2 myotubes",

abstract = "The pathogenesis of myotonic dystrophy type 1 (DM1) and type 2 (DM2) has been related to the aberrant splicing of several genes, including those encoding for ryanodine receptor 1 (RYR1), sarcoplasmatic/endoplasmatic Ca(2+) -ATPase (SERCA) and α1S subunit of voltage-gated Ca(2+) channels (Cav 1.1). The aim of this study is to determine whether alterations of these genes are associated with changes in the regulation of intracellular Ca(2+) homeostasis and signaling.",

keywords = "Cav1.1, RYR1, SERCA, intracellular calcium signals, myotonic dystrophy, myotubes, Cav1.1, RYR1, SERCA, intracellular calcium signals, myotonic dystrophy, myotubes",

author = "Massimo Santoro and Roberto Piacentini and Marcella Masciullo and Bianchi, \{Maria Laura Ester\} and Anna Modoni and Podda, \{Maria Vittoria\} and Enzo Ricci and Gabriella Silvestri and Claudio Grassi",

year = "2013",

doi = "10.1111/nan.12076",

language = "English",

pages = "N/A--N/A",

journal = "Neuropathology and Applied Neurobiology",

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publisher = "Wiley-Blackwell Publishing Ltd",

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TY - JOUR

T1 - Alternative splicing alterations of Ca(2+) handling genes are associated with Ca(2+) signal dysregulation in DM1 and DM2 myotubes

AU - Santoro, Massimo

AU - Piacentini, Roberto

AU - Masciullo, Marcella

AU - Bianchi, Maria Laura Ester

AU - Modoni, Anna

AU - Podda, Maria Vittoria

AU - Ricci, Enzo

AU - Silvestri, Gabriella

AU - Grassi, Claudio

PY - 2013

Y1 - 2013

N2 - The pathogenesis of myotonic dystrophy type 1 (DM1) and type 2 (DM2) has been related to the aberrant splicing of several genes, including those encoding for ryanodine receptor 1 (RYR1), sarcoplasmatic/endoplasmatic Ca(2+) -ATPase (SERCA) and α1S subunit of voltage-gated Ca(2+) channels (Cav 1.1). The aim of this study is to determine whether alterations of these genes are associated with changes in the regulation of intracellular Ca(2+) homeostasis and signaling.

AB - The pathogenesis of myotonic dystrophy type 1 (DM1) and type 2 (DM2) has been related to the aberrant splicing of several genes, including those encoding for ryanodine receptor 1 (RYR1), sarcoplasmatic/endoplasmatic Ca(2+) -ATPase (SERCA) and α1S subunit of voltage-gated Ca(2+) channels (Cav 1.1). The aim of this study is to determine whether alterations of these genes are associated with changes in the regulation of intracellular Ca(2+) homeostasis and signaling.

KW - Cav1.1

KW - RYR1

KW - SERCA

KW - intracellular calcium signals

KW - myotonic dystrophy

KW - myotubes

KW - Cav1.1

KW - RYR1

KW - SERCA

KW - intracellular calcium signals

KW - myotonic dystrophy

KW - myotubes

UR - http://hdl.handle.net/10807/45629

U2 - 10.1111/nan.12076

DO - 10.1111/nan.12076

M3 - Article

SN - 0305-1846

SP - N/A-N/A

JO - Neuropathology and Applied Neurobiology

JF - Neuropathology and Applied Neurobiology

ER -

Alternative splicing alterations of Ca(2+) handling genes are associated with Ca(2+) signal dysregulation in DM1 and DM2 myotubes

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Keywords

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