Dysregulated calcium homeostasis prevents plasma membrane repair in Anoctamin 5/TMEM16E-deficient patient muscle cells (Q92156885)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31341644 AND SRC:MED&resulttype=core&format=json

27 April 2020

title

Dysregulated calcium homeostasis prevents plasma membrane repair in Anoctamin 5/TMEM16E-deficient patient muscle cells (English)

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27 April 2020

4

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27 April 2020

Hiroki Morizono

10

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27 April 2020

Anant K Menon

12

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27 April 2020

Jyoti K. Jaiswal

13

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27 April 2020

author name string

Goutam Chandra

1

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27 April 2020

Aurelia Defour

2

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27 April 2020

Kamel Mamchoui

3

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27 April 2020

Soumya Mishra

5

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27 April 2020

Vincent Mouly

6

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27 April 2020

SenChandra Sreetama

7

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27 April 2020

Mohammad Mahad Ahmad

8

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27 April 2020

Ibrahim Mahjneh

9

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27 April 2020

Nagarajan Pattabiraman

11

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27 April 2020

publication date

18 July 2019

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27 April 2020

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27 April 2020

volume

5

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27 April 2020

page(s)

118

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Anoctamin 8 tethers endoplasmic reticulum and plasma membrane for assembly of Ca2 signaling complexes at the ER/PM compartment

27 April 2020

cites work

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Cryo-EM structures and functional characterization of the murine lipid scramblase TMEM16F

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Stepwise activation mechanism of the scramblase nhTMEM16 revealed by cryo-EM

23 February 2021

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Anoctamin 5/TMEM16E facilitates muscle precursor cell fusion

23 February 2021

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Gating mechanism of the extracellular entry to the lipid pathway in a TMEM16 scramblase

23 February 2021

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Known structures and unknown mechanisms of TMEM16 scramblases and channels.

23 February 2021

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Structural mapping of fluorescently-tagged, functional nhTMEM16 scramblase in a lipid bilayer

23 February 2021

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Development of muscular dystrophy in a CRISPR-engineered mutant rabbit model with frame-disrupting ANO5 mutations.

23 February 2021

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Single-molecule analysis of phospholipid scrambling by TMEM16F.

23 February 2021

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A Completely Reimplemented MPI Bioinformatics Toolkit with a New HHpred Server at its Core

23 February 2021

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Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia

23 February 2021

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Characterization of the scrambling domain of the TMEM16 family.

23 February 2021

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Anoctamins/TMEM16 Proteins: Chloride Channels Flirting with Lipids and Extracellular Vesicles

23 February 2021

1 reference

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The nhTMEM16 Scramblase Is Also a Nonselective Ion Channel

23 February 2021

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Schisandrae fructus enhances myogenic differentiation and inhibits atrophy through protein synthesis in human myotubes

23 February 2021

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Comparative Protein Structure Modeling Using MODELLER.

23 February 2021

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Structural basis for phospholipid scrambling in the TMEM16 family

23 February 2021

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Defective membrane fusion and repair in Anoctamin5-deficient muscular dystrophy

23 February 2021

1 reference

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Genetic disruption of Ano5 in mice does not recapitulate human ANO5-deficient muscular dystrophy.

23 February 2021

1 reference

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A Role of TMEM16E Carrying a Scrambling Domain in Sperm Motility.

23 February 2021

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Injured astrocytes are repaired by Synaptotagmin XI-regulated lysosome exocytosis.

23 February 2021

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X-ray structure of a calcium-activated TMEM16 lipid scramblase

23 February 2021

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Dysferlin regulates cell membrane repair by facilitating injury-triggered acid sphingomyelinase secretion.

23 February 2021

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Imaging cell membrane injury and subcellular processes involved in repair

23 February 2021

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Ca2 -dependent phospholipid scrambling by a reconstituted TMEM16 ion channel.

23 February 2021

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TMEM16E (GDD1) exhibits protein instability and distinct characteristics in chloride channel/pore forming ability.

23 February 2021

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Regulators of calcium homeostasis identified by inference of kinetic model parameters from live single cells perturbed by siRNA.

23 February 2021

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The phenotype of dysferlin-deficient mice is not rescued by adeno-associated virus-mediated transfer of anoctamin 5.

23 February 2021

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Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression

23 February 2021

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ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation

23 February 2021

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Calcium-dependent phospholipid scramblase activity of TMEM16 protein family members

23 February 2021

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ER-to-plasma membrane tethering proteins regulate cell signaling and ER morphology

23 February 2021

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Anoctamins are a family of Ca2 -activated Cl- channels

23 February 2021

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Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.

23 February 2021

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ANOs 3–7 in the anoctamin/Tmem16 Cl− channel family are intracellular proteins

23 February 2021

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Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders

23 February 2021

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A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy

23 February 2021

1 reference

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The sarcoplasmic Ca2 -ATPase: design of a perfect chemi-osmotic pump

23 February 2021

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A new distal myopathy with mutation in anoctamin 5.

23 February 2021

1 reference

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The presence of bestrophin-1 modulates the Ca2 recruitment from Ca2 stores in the ER.

23 February 2021

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Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies

23 February 2021

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23 February 2021

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23 February 2021

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Endoplasmic reticulum stress in myotonic dystrophy type 1 muscle.

23 February 2021

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Molecular characterization of GDD1/TMEM16E, the gene product responsible for autosomal dominant gnathodiaphyseal dysplasia

23 February 2021

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Patients with a Non-dysferlin Miyoshi Myopathy have a Novel Membrane Repair Defect

23 February 2021

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GDD1 is identical to TMEM16E, a member of the TMEM16 family

23 February 2021

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23 February 2021

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The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD)

23 February 2021

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23 February 2021

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Defective membrane repair in dysferlin-deficient muscular dystrophy

23 February 2021

1 reference

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Dysferlin expression in tubular aggregates: their possible relationship to endoplasmic reticulum stress

23 February 2021

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"Kissin' cousins": intimate plasma membrane-ER interactions underlie capacitative calcium entry

23 February 2021

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Chloride channel blockers inhibit Ca2 uptake by the smooth muscle sarcoplasmic reticulum

23 February 2021

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23 February 2021

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Calcium-induced restructuring of nuclear envelope and endoplasmic reticulum calcium stores

23 February 2021

1 reference

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10.1038/S41420-019-0197-Z

23 February 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31341644 AND SRC:MED&resulttype=core&format=json

27 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31341644 AND SRC:MED&resulttype=core&format=json

27 April 2020

PubMed publication ID

31341644

1 reference