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

Risultato della ricerca: Contributo in rivista › Articolo in rivista › peer review

29 Citazioni (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.

Lingua originale	English
pagine (da-a)	N/A-N/A
Rivista	Neuropathology and Applied Neurobiology
DOI	https://doi.org/10.1111/nan.12076
Stato di pubblicazione	Pubblicato - 2013

Keywords

Cav1.1
RYR1
SERCA
intracellular calcium signals
myotonic dystrophy
myotubes

Accesso al documento

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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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

Abstract

Keywords

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