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Anne-Sophie Nicot Selected Research

amphiphysin

1/2019Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice.
12/2017Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation.
10/2015Amphiphysin 2 Orchestrates Nucleus Positioning and Shape by Linking the Nuclear Envelope to the Actin and Microtubule Cytoskeleton.
6/2010Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations.
12/2007[Mutations in amphiphysin 2 (BIN1) cause autosomal recessive centronuclear myopathy].
9/2007Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.

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Anne-Sophie Nicot Research Topics

Disease

10Congenital Structural Myopathies (Centronuclear Myopathy)
06/2019 - 09/2007
2Inborn Genetic Diseases (Disease, Hereditary)
06/2019 - 08/2008
2Muscular Diseases (Myopathy)
06/2019 - 08/2008
2Neuromuscular Diseases (Neuromuscular Disease)
06/2014 - 07/2006
1Inclusion Body Myositis
06/2014
1Proteostasis Deficiencies
06/2014
1Cadaver (Cadavers)
05/2011
1Fleck Corneal Dystrophy
08/2008
1Peripheral Nervous System Diseases (PNS Diseases)
08/2008
1Type 2B Charcot-Marie-Tooth disease
12/2007
1Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy)
12/2007

Drug/Important Bio-Agent (IBA)

6amphiphysinIBA
01/2019 - 09/2007
5Dynamin IIIBA
06/2019 - 09/2007
5myotubularinIBA
01/2019 - 07/2006
4Phosphatidylinositols (Phosphatidylinositol)IBA
01/2019 - 07/2006
4Proteins (Proteins, Gene)FDA Link
01/2019 - 06/2010
2EnzymesIBA
01/2016 - 08/2008
2Phosphoinositide PhosphatasesIBA
05/2011 - 09/2007
1phosphatidylinositol-3-phosphataseIBA
01/2016
1Protein AggregatesIBA
06/2014
1Glycogen Synthase Kinase 3IBA
06/2014
1Ubiquitinated ProteinsIBA
06/2014
1Complementary DNA (cDNA)IBA
06/2010
1P-2 (P 2)IBA
08/2008
1phosphatidylinositol 3-phosphateIBA
08/2008
1GTP Phosphohydrolases (GTPases)IBA
12/2007
1Phosphoric Monoester Hydrolases (Phosphatases)IBA
07/2006

Therapy/Procedure

1Therapeutics
06/2019