(Q57387328)

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15 February 2020

title

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies (English)

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15 February 2020

2

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15 February 2020

Karim Hnia

3

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15 February 2020

Yannick Schwab

6

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15 February 2020

Jean-Louis Mandel

13

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15 February 2020

Ichizo Nishino

14

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15 February 2020

1

Anne Toussaint

1 reference

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15 February 2020

11

Vincent Laugel

1 reference

15 February 2020

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Carina Wallgren-Pettersson

10

object named as

Carina Wallgren-Pettersson

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15 February 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20927630%20AND%20SRC:MED&resulttype=core&format=json

Michel Mohr

4

object named as

Michel Mohr

1 reference

15 February 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20927630%20AND%20SRC:MED&resulttype=core&format=json

author name string

Anders Oldfors

5

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15 February 2020

Uluc Yis

7

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15 February 2020

Thierry Maisonobe

8

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15 February 2020

Tanya Stojkovic

9

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15 February 2020

Andoni Echaniz-Laguna

12

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15 February 2020

Jocelyn Laporte

15

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15 February 2020

publication date

7 October 2010

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15 February 2020

published in

Acta Neuropathologica

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15 February 2020

volume

121

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15 February 2020

issue

2

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15 February 2020

page(s)

253-266

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T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

15 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

Mutations in dynamin 2 cause dominant centronuclear myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

Amphiphysin II (SH3P9; BIN1), a member of the amphiphysin/Rvs family, is concentrated in the cortical cytomatrix of axon initial segments and nodes of ranvier in brain and around T tubules in skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

A molecular caliper mechanism for determining very long-chain fatty acid length

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

Bin1 functionally interacts with Myc and inhibits cell proliferation via multiple mechanisms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

Bin1 SRC homology 3 domain acts as a scaffold for myofiber sarcomere assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

Molecular organization of transverse tubule/sarcoplasmic reticulum junctions during development of excitation-contraction coupling in skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

The BAR domain superfamily: membrane-molding macromolecules

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

BIN1 localizes the L-type calcium channel to cardiac T-tubules

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

Clinical and histologic findings in autosomal centronuclear myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

Data on the distribution of fibre types in thirty-six human muscles. An autopsy study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

Centronuclear (myotubular) myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

Regulation of Bin1 SH3 domain binding by phosphoinositides

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

MTM1 mutations in X-linked myotubular myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

Amphiphysin 2 (Bin1) and T-tubule biogenesis in muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

A new member of the amphiphysin family connecting endocytosis and signal transduction pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

Membrane curvature and mechanisms of dynamic cell membrane remodelling

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

Targeted disruption of the murine Bin1/Amphiphysin II gene does not disable endocytosis but results in embryonic cardiomyopathy with aberrant myofibril formation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

Targeted deletion of the suppressor gene bin1/amphiphysin2 accentuates the neoplastic character of transformed mouse fibroblasts.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

Endosomal phosphoinositides and human diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

What's new in congenital myopathies?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

X-linked myotubular and centronuclear myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

Multiple amphiphysin II splice variants display differential clathrin binding: identification of two distinct clathrin-binding sites

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

Amphiphysin is necessary for organization of the excitation-contraction coupling machinery of muscles, but not for synaptic vesicle endocytosis in Drosophila

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

The BAR domain proteins: molding membranes in fission, fusion, and phagy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

Plectin 1f scaffolding at the sarcolemma of dystrophic (mdx) muscle fibers through multiple interactions with beta-dystroglycan.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

Centronuclear myopathies: a widening concept

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

BIN1 is a novel MYC-interacting protein with features of a tumour suppressor

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

Identification of dynamin, a novel mechanochemical enzyme that mediates interactions between microtubules

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

Dynamin is required for F-actin assembly and pedestal formation by enteropathogenic Escherichia coli (EPEC).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

A role for the putative tumor suppressor Bin1 in muscle cell differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-010-0754-2

10.1007/S00401-010-0754-2

21 January 2018

Identifiers

DOI

1 reference

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15 February 2020

1 reference