Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels (Q50622465)

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scientific article published on 16 September 2014

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English	Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels	scientific article published on 16 September 2014

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/25227914

Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels (English)

1 reference

Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/25227914

tubular aggregate myopathy

1 reference

based on heuristic

inferred from title

15

1 reference

Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/25227914

author name string

Yukari Endo

1

1 reference

Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/25227914

Satoru Noguchi

2

1 reference

Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/25227914

Yuji Hara

3

1 reference

Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/25227914

Yukiko K Hayashi

4

1 reference

Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/25227914

Kazushi Motomura

5

1 reference

Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/25227914

Satoko Miyatake

6

1 reference

Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/25227914

Nobuyuki Murakami

7

1 reference

Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/25227914

Satsuki Tanaka

8

1 reference

Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/25227914

Sumimasa Yamashita

9

1 reference

Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/25227914

Rika Kizu

10

1 reference

Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/25227914

Masahiro Bamba

11

1 reference

Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/25227914

Yu-Ichi Goto

12

1 reference

Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/25227914

Naomichi Matsumoto

13

1 reference

Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/25227914

Ikuya Nonaka

14

1 reference

Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/25227914

publication date

16 September 2014

1 reference

Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/25227914

Human Molecular Genetics

1 reference

Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/25227914

24

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Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/25227914

3

1 reference

Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/25227914

637-648

1 reference

Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/25227914

Clinical practice. Hypoparathyroidism

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

Sarcoplasmic reticulum: the dynamic calcium governor of muscle

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

CRACM1 is a plasma membrane protein essential for store-operated Ca2+ entry

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

Molecular identification of the CRAC channel by altered ion selectivity in a mutant of Orai

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

STIM1, an essential and conserved component of store-operated Ca2+ channel function

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

Orai1 is an essential pore subunit of the CRAC channel

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

Tubular aggregate myopathy: a rare form of myopathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

A dominant STIM1 mutation causes Stormorken syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

Tubular aggregates are from whole sarcoplasmic reticulum origin: alterations in calcium binding protein expression in mouse skeletal muscle during aging

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

The origin of tubular aggregates in human myopathies

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

Tubular aggregates: sarcoplasmic reticulum origin, calcium storage ability, and functional implications

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

Crystal Structure of the Calcium Release-Activated Calcium Channel Orai

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

Potentiation and inhibition of Ca(2+) release-activated Ca(2+) channels by 2-aminoethyldiphenyl borate (2-APB) occurs independently of IP(3) receptors

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

A Pyrazole Derivative, YM-58483, Potently Inhibits Store-Operated Sustained Ca2+ Influx and IL-2 Production in T Lymphocytes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

Mutations of the Ca2+-sensing stromal interaction molecule STIM1 regulate Ca2+ influx by altered oligomerization of STIM1 and by destabilization of the Ca2+ channel Orai1

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

Biochemical and functional characterization of Orai proteins

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

Pore architecture of the ORAI1 store-operated calcium channel.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

Dynamic coupling of the putative coiled-coil domain of ORAI1 with STIM1 mediates ORAI1 channel activation.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

Mutations in Orai1 transmembrane segment 1 cause STIM1-independent activation of Orai1 channels at glycine 98 and channel closure at arginine 91.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

Differential roles of the C and N termini of Orai1 protein in interacting with stromal interaction molecule 1 (STIM1) for Ca2+ release-activated Ca2+ (CRAC) channel activation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

STIM1 as a key regulator for Ca2+ homeostasis in skeletal-muscle development and function

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

The regulation of parathyroid hormone secretion and synthesis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

Monitoring autophagy in muscle diseases

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU477

21 January 2018

Identifiers

10.1093/HMG/DDU477

1 reference

Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/25227914

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/25227914

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