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

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Karim Hnia

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Yannick Schwab

6

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Jean-Louis Mandel

13

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Ichizo Nishino

14

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Anne Toussaint

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Vincent Laugel

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Carina Wallgren-Pettersson

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object named as

Carina Wallgren-Pettersson

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Michel Mohr

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Michel Mohr

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author name string

Anders Oldfors

5

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Uluc Yis

7

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Thierry Maisonobe

8

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Tanya Stojkovic

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Andoni Echaniz-Laguna

12

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Jocelyn Laporte

15

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publication date

7 October 2010

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published in

Acta Neuropathologica

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volume

121

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page(s)

253-266

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issue

2

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https://scigraph.springernature.com/pub.10.1007/s00401-010-0754-2

15 February 2020

exact match

0 references

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

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Mutations in dynamin 2 cause dominant centronuclear myopathy

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

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

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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

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

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

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

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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10.1007/S00401-010-0754-2

21 January 2018

Identifiers

DOI

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15 February 2020

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