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

Lingua originale	English
pagine (da-a)	464-476
Numero di pagine	13
Rivista	Neuropathology and Applied Neurobiology
Volume	40
DOI	https://doi.org/10.1111/nan.12076
Stato di pubblicazione	Pubblicato - 2014

Keywords

Cav1.1
RYR1
SERCA
intracellular calcium signals
myotonic dystrophy
myotubes

Accesso al documento

10.1111/nan.12076

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Santoro, M., Piacentini, R., Masciullo, M., Bianchi, M. L. E., Modoni, A., Podda, M. V., Ricci, E., Silvestri, G., & Grassi, C. (2014). 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, 40, 464-476. https://doi.org/10.1111/nan.12076

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title = "Alternative splicing alterations of Ca2+ handling genes are associated with Ca2+ signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (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 signalling.",

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 = "2014",

doi = "10.1111/nan.12076",

language = "English",

volume = "40",

pages = "464--476",

journal = "Neuropathology and Applied Neurobiology",

issn = "0305-1846",

publisher = "Wiley-Blackwell Publishing Ltd",

}

Santoro, M, Piacentini, R, Masciullo, M, Bianchi, MLE, Modoni, A, Podda, MV , Ricci, E , Silvestri, G & Grassi, C 2014, '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, vol. 40, pagg. 464-476. https://doi.org/10.1111/nan.12076

Alternative splicing alterations of Ca2+ handling genes are associated with Ca2+ signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (DM2) myotubes. / Santoro, Massimo; Piacentini, Roberto; Masciullo, Marcella et al.
In: Neuropathology and Applied Neurobiology, Vol. 40, 2014, pag. 464-476.

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

TY - JOUR

T1 - Alternative splicing alterations of Ca2+ handling genes are associated with Ca2+ signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (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 - 2014

Y1 - 2014

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 signalling.

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 signalling.

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/10807/64016

U2 - 10.1111/nan.12076

DO - 10.1111/nan.12076

M3 - Article

SN - 0305-1846

VL - 40

SP - 464

EP - 476

JO - Neuropathology and Applied Neurobiology

JF - Neuropathology and Applied Neurobiology

ER -

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

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Keywords

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