A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates. (Q34254547)

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12 March 2020

title

A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates (English)

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1

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Bianca Vezzani

2

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Luana Toniolo

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Enrico Pierantozzi

6

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Simone Spinozzi

7

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Virginia Barone

8

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Luca Bello

10

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Giovanna Cenacchi

11

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Gaetano Vattemi

12

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Giulia Ricci

14

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Gabriele Siciliano

15

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Vincenzo Sorrentino

18

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Lucia Galli

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Giuliano Tomelleri

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Feliciano Protasi

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Carlo Reggiani

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author name string

Cecilia Paolini

4

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12 March 2020

Elena Pegoraro

9

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publication date

10 September 2014

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12 March 2020

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volume

35

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issue

10

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page(s)

1163-1170

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Identification of calcium binding sites on calsequestrin 1 and their implications for polymerization

12 March 2020

cites work

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Molecular mechanisms of pharmaceutical drug binding into calsequestrin

6 July 2018

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High-capacity Ca2+ binding of human skeletal calsequestrin

6 July 2018

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Protein Aggregation in Congenital Myopathies

6 July 2018

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Calsequestrin (CASQ1) rescues function and structure of calcium release units in skeletal muscles of CASQ1-null mice

6 July 2018

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6 July 2018

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Differential Effect of Calsequestrin Ablation on Structure and Function of Fast and Slow Skeletal Muscle Fibers

6 July 2018

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Anesthetic- and heat-induced sudden death in calsequestrin-1-knockout mice

6 July 2018

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What's new in congenital myopathies?

6 July 2018

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The sarcoplasmic reticulum: an organized patchwork of specialized domains.

6 July 2018

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Characterization of human cardiac calsequestrin and its deleterious mutants

6 July 2018

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Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.

6 July 2018

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Sarcoplasmic reticulum: the dynamic calcium governor of muscle

6 July 2018

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Polymerization of calsequestrin. Implications for Ca2+ regulation

6 July 2018

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A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel

6 July 2018

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Different Ca2+ releasing action of caffeine and depolarisation in skeletal muscle fibres of the rat

6 July 2018

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Crystal structure of calsequestrin from rabbit skeletal muscle sarcoplasmic reticulum

6 July 2018

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Regulation of Ca2+ signaling in transgenic mouse cardiac myocytes overexpressing calsequestrin

6 July 2018

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Isolation of a calcium-sequestering protein from sarcoplasmic reticulum

6 July 2018

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Ca2+ release from sarcoplasmic reticulum of skinned fast- and slow-twitch muscle fibers

6 July 2018

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Progressive disorganization of the excitation-contraction coupling apparatus in aging human skeletal muscle as revealed by electron microscopy: a possible role in the decline of muscle performance

6 July 2018

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21 January 2018

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Distinct regions of triadin are required for targeting and retention at the junctional domain of the sarcoplasmic reticulum

21 January 2018

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21 January 2018

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21 January 2018

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12 December 2020

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12 December 2020

Measurement of Ca2+ release in skinned fibers from skeletal muscle

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12 December 2020

Coexpression of two isoforms of calsequestrin in rabbit slow-twitch muscle

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12 December 2020

The contribution of the sarcoplasmic reticulum Ca2+-transport ATPase to caffeine-induced Ca2+ transients of murine skinned skeletal muscle fibres

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12 December 2020

Identifiers

DOI

10.1002/HUMU.22631

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12 March 2020

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12 March 2020

PubMed publication ID

25116801

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