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Cited by 451Muscle Physiology and DisordersGenomics and Rare DiseasesCellular transport and secretion

The DOI matches its Crossref record; 33 of the 33 references it cites were found in a registry or an index.

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

Nicot, Anne-Sophie, Toussaint, Anne, Tosch, Valérie, Kretz, Christine, Wallgren-Pettersson, Carina, Iwarsson, Erik, Kingston, Helen, Garnier, Jean-Marie, Biancalana, Valérie, Oldfors, Anders, Mandel, Jean-Louis, Laporte, Jocelyn·2007·Nature Genetics
DOI 10.1038/ng2086
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Abstract

Centronuclear myopathies are characterized by muscle weakness and abnormal centralization of nuclei in muscle fibers not secondary to regeneration. The severe neonatal X-linked form (myotubular myopathy) is due to mutations in the phosphoinositide phosphatase myotubularin (MTM1), whereas mutations in dynamin 2 (DNM2) have been found in some autosomal dominant cases. By direct sequencing of functional candidate genes, we identified homozygous mutations in amphiphysin 2 (BIN1) in three families with autosomal recessive inheritance. Two missense mutations affecting the BAR (Bin1/amphiphysin/RVS167) domain disrupt its membrane tubulation properties in transfected cells, and a partial truncation of the C-terminal SH3 domain abrogates the interaction with DNM2 and its recruitment to the membrane tubules. Our results suggest that mutations in BIN1 cause centronuclear myopathy by interfering with remodeling of T tubules and/or endocytic membranes, and that the functional interaction between BIN1 and DNM2 is necessary for normal muscle function and positioning of nuclei.

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Crossref · 10.1038/ng2086

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Metadata

Authors
Nicot, A.-S., Toussaint, A., Tosch, V., Kretz, C., Wallgren-Pettersson, C., Iwarsson, E., Kingston, H., Garnier, J.-M., Biancalana, V., Oldfors, A., Mandel, J.-L., & Laporte, J.
Affiliations
  • Centre National de la Recherche Scientifique (FR)
  • Karolinska University Hospital (SE)
  • Laboratoire de Génétique Médicale (FR)
  • Sahlgrenska University Hospital (SE)
Corresponding author
Laporte, Jocelyn
ORCID
Venue
Nature Genetics
Publisher
Springer Science and Business Media LLC
Published
2007-08-05
Volume
39
Issue
9
Pages
1134-1139
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
DOI
10.1038/ng2086
OpenAlex
W2053365501
Cited by
434
References
33
Citations by year
2026: 9 · 2025: 17 · 2024: 22 · 2023: 19 · 2022: 39 · 2021: 19 · 2020: 26 · 2019: 20 · 2018: 26 · 2017: 21 · 2016: 21 · 2015: 20 · 2014: 28 · 2013: 26 · 2012: 27
FWCI
8.73
Type
journal article
Language
en
Open access
closed
Licence
www.springer.com/tdm (tdm)
Locations
  • Nature Genetics (publishedVersion)
  • PubMed (publishedVersion)
  • HAL (submittedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Muscle Physiology and Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Cellular transport and secretion
Keywords
BIN1, dynamin 2, centronuclear myopathy, autosomal recessive inheritance, missense mutations, BAR domain, SH3 domain, protein-protein interaction, myotubular myopathy
MeSH terms
Amino Acid Sequence, Animals, Base Sequence, Binding Sites, Cell Line, Cell Nucleus, Chlorocebus aethiops, Female, Genes, Recessive, Haplotypes, Humans, Male, Molecular Sequence Data, Muscular Diseases, Mutation, Nerve Tissue Proteins, Protein Binding, Transfection, Sequence Homology, Amino Acid, Microscopy, Confocal, COS Cells, Polymorphism, Single Nucleotide, Dynamin II, Green Fluorescent Proteins, Mice

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