Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1 (Q28115358)

3 January 2017

title

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1 (English)

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Stromal interaction molecule 1

3 January 2017

main subject

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tubular aggregate myopathy

GOA release 2020-03-11

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19

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Fabiana Fattori

Fabiana Fattori

10

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Giorgio Tasca

Giorgio Tasca

9

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Marina Mora

Marina Mora

5

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Isabella Moroni

8

Isabella Moroni

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ORCID Public Data File 2021

3 January 2017

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Michel Fardeau

14

Michel Fardeau

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3 January 2017

Johann Böhm

1

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3 January 2017

Frédéric Chevessier

2

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3 January 2017

Catherine Koch

3

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3 January 2017

G. Arielle Peche

4

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3 January 2017

Lucia Morandi

6

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3 January 2017

Barbara Pasanisi

7

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3 January 2017

Enzo Ricci

11

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3 January 2017

Isabelle Pénisson-Besnier

12

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3 January 2017

Aleksandra Nadaj-Pakleza

13

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3 January 2017

Pushpa Raj Joshi

15

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3 January 2017

Marcus Deschauer

16

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3 January 2017

Norma Beatriz Romero

17

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3 January 2017

Bruno Eymard

18

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3 January 2017

language of work or name

English

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publication date

1 December 2014

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Journal of Medical Genetics

3 January 2017

published in

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3 January 2017

volume

51

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3 January 2017

issue

12

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3 January 2017

page(s)

824–833

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Mapping the interacting domains of STIM1 and Orai1 in Ca2+ release-activated Ca2+ channel activation

3 January 2017

cites work

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102623

STIM1 couples to ORAI1 via an intramolecular transition into an extended conformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102623

Structural and mechanistic insights into STIM1-mediated initiation of store-operated calcium entry

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102623

Stored Ca2+ depletion-induced oligomerization of stromal interaction molecule 1 (STIM1) via the EF-SAM region: An initiation mechanism for capacitive Ca2+ entry

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102623

STIM1 is a Ca2+ sensor that activates CRAC channels and migrates from the Ca2+ store to the plasma membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102623

Ca2+ store depletion causes STIM1 to accumulate in ER regions closely associated with the plasma membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102623

The elementary unit of store-operated Ca2+ entry: local activation of CRAC channels by STIM1 at ER-plasma membrane junctions

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102623

STIM is a Ca2+ sensor essential for Ca2+-store-depletion-triggered Ca2+ influx

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102623

Live-cell imaging reveals sequential oligomerization and local plasma membrane targeting of stromal interaction molecule 1 after Ca2+ store depletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102623

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102623

Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102623

STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102623

A dominant STIM1 mutation causes Stormorken syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102623

Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102623

Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102623

The origin of tubular aggregates in human myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102623

Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102623

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102623

Sequential stages in the age-dependent gradual formation and accumulation of tubular aggregates in fast twitch muscle fibers: SERCA and calsequestrin involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102623

Tubular aggregates in type II muscle fibers: Ultrastructural and histochemical correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102623

Large store-operated calcium selective currents due to co-expression of Orai1 or Orai2 with the intracellular calcium sensor, Stim1

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102623

STIM1 carboxyl-terminus activates native SOC, I(crac) and TRPC1 channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102623

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102623

Tubular aggregates in skeletal muscle: Just a special type of protein aggregates?

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102623

Aggregation of STIM1 underneath the plasma membrane induces clustering of Orai1

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102623

10.1136/JMEDGENET-2014-102623

21 January 2018

Identifiers

DOI

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1 reference