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Mutations in dynamin 2 cause dominant centronuclear myopathy

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Amphiphysin 2 (Bin1) and T-Tubule Biogenesis in Muscle

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

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Human BIN1 isoforms grow, maintain, and regenerate excitation–contraction couplons in adult rat and human stem cell-derived cardiomyocytes

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DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy

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Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems

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Two Dynamin-2 Genes Are Required for Normal Zebrafish Development

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A Review of Mechanics-Based Mesoscopic Membrane Remodeling Methods: Capturing Both the Physics and the Chemical Diversity

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Tamoxifen improves muscle structure and function of Bin1- and Dnm2-related centronuclear myopathies

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MTM1 overexpression prevents and reverts BIN1-related centronuclear myopathy

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Therapeutic Aspects in Congenital Myopathies

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Inactivating the lipid kinase activity of PI3KC2β is sufficient to rescue myotubular myopathy in mice

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Mitochondrial alterations in dynamin 2-related centronuclear myopathy

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Cells Control BIN1-Mediated Membrane Tubulation by Altering the Membrane Charge

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Nanobar Array Assay Revealed Complementary Roles of BIN1 Splice Isoforms in Cardiac T-Tubule Morphogenesis

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198th ENMC International Workshop: 7th Workshop on Centronuclear (Myotubular) myopathies, 31st May – 2nd June 2013, Naarden, The Netherlands

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The intragenic microRNA miR199A1 in the dynamin 2 gene contributes to the pathology of X-linked centronuclear myopathy

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Manifesting carriers of X-linked myotubular myopathy

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Eps 15 Homology Domain (EHD)-1 Remodels Transverse Tubules in Skeletal Muscle

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RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 2022

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Dynamins in human diseases: differential requirement of dynamin activity in distinct tissues

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Clinical, pathological, and genetic features of dynamin-2-related centronuclear myopathy in China

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Novel SPEG variant cause centronuclear myopathy in China

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Orchestrating vesicular and nonvesicular membrane dynamics by intrinsically disordered proteins

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164th ENMC International workshop: 6th workshop on centronuclear (myotubular) myopathies, 16–18th January 2009, Naarden, The Netherlands

Jungbluth, H., Wallgren‐Pettersson, C., & Laporte, J. (2009) · Neuromuscular Disorders · doi:10.1016/j.nmd.2009.06.373 · Cited by 15

Biochemical and functional significance of F-BAR domain proteins interaction with WASP/N-WASP

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Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands

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Associations of ARHGAP26 Polymorphisms with Alzheimer’s Disease and Cardiovascular Disease

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Differential Effects of Alzheimer’s Disease Aβ40 and 42 on Endocytosis and Intraneuronal Trafficking

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Shaping transverse-tubules: central mechanisms that play a role in the cytosol zoning for muscle contraction

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Amphiphysin-2 (BIN1) functions and defects in cardiac and skeletal muscle

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Clinical and Pathological Features of Korean Patients withDNM2-Related Centronuclear Myopathy

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5-Aryl-2-(naphtha-1-yl)sulfonamido-thiazol-4(5H)-ones as clathrin inhibitors

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Hereditary Myopathies

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X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10

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Myotonia in DNM2-related centronuclear myopathy

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Respiratory assessment in centronuclear myopathies

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Severe phenotype of a patient with autosomal recessive centronuclear myopathy due to a BIN1 mutation.

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Membrane remodeling by amyloidogenic and non-amyloidogenic proteins studied by EPR

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Adult centronuclear myopathies: A hospital-based study

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Genetic Biomarkers in Alzheimer’s Disease

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Congenital myopathies

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Characterization of SMA type II skeletal muscle from treated patients shows OXPHOS deficiency and denervation

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EHBP1L1, an apicobasal polarity regulator, is critical for nuclear polarization during enucleation of erythroblasts

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Large duplication in MTM1 associated with myotubular myopathy

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Unconventional roles for membrane traffic proteins in response to muscle membrane stress

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Phosphatidylinositol-4,5-Bisphosphate Binding to Amphiphysin-II Modulates T-Tubule Remodeling: Implications for Heart Failure

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Genome Regulation and Gene Interaction Networks Inferred From Muscle Transcriptome Underlying Feed Efficiency in Pigs

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A dog model for centronuclear myopathy carrying the most common DNM2 mutation

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Uncovering the BIN1-SH3 interactome underpinning centronuclear myopathy

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A rapid immunohistochemical test to distinguish congenital myotonic dystrophy from X-linked myotubular myopathy

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SPEG binds with desmin and its deficiency causes defects in triad and focal adhesion proteins

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The congenital myopathies

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Membrane Remodeling Due to a Mixture of Multiple Types of Curvature Proteins

Kumar, G., & Srivastava, A. K. (2022) · Journal of Chemical Theory and Computation · doi:10.1021/acs.jctc.2c00126 · Cited by 10

BIN1 in cancer: biomarker and therapeutic target

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Characterization of a novel zebrafish model of SPEG -related centronuclear myopathy

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Congenital and Other Structural Myopathies

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An Emerging Role for PI5P in T Cell Biology

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A molecular dynamics study of the interaction between domain I-BAR of the IRSp53 protein and negatively charged membranes

Levtsova, O. V., Давлетов, И. Д., Sokolova, O. S., & Шайтан, К. В. (2011) · BIOPHYSICS · doi:10.1134/s0006350911020199 · Cited by 9

Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1

Kouwenberg, C. V., Böhm, J., Erasmus, C. E., van Balken, I., Vos, S. H., Küsters, B., Kamsteeg, E., Biancalana, V., Koch, C., Dondaine, N., et al. (2017) · Journal of Neuromuscular Diseases · doi:10.3233/jnd-170238 · Cited by 9

Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation

Garibaldi, M., Böhm, J., Fattori, F., Koch, C., Surace, C., Ottaviani, P., Laschena, F., Laporte, J., Bertini, E., Antonini, G., et al. (2016) · Journal of Neuromuscular Diseases · doi:10.3233/jnd-150125 · Cited by 9

A rare case of centronuclear myopathy with DNM2 mutation: genotype phenotype correlation

Ghorbani-Aghbolaghi, A., & Lechpammer, M. (2017) · Autopsy and Case Reports · doi:10.4322/acr.2017.020 · Cited by 9

Effect of BIN1 on cardiac dysfunction and malignant arrhythmias

Jiang, X., Zhu, Y., Liu, H., Chen, S., & Zhang, D. (2019) · Acta Physiologica · doi:10.1111/apha.13429 · Cited by 8

PI(4,5)P2 and Cholesterol: Synthesis, Regulation, and Functions

Rosenhouse‐Dantsker, A., Gazgalis, D., & Logothetis, D. E. (2023) · Advances in experimental medicine and biology · doi:10.1007/978-3-031-21547-6_1 · Cited by 8

BIN1 regulates actin-membrane interactions during IRSp53-dependent filopodia formation

Picas, L., André-Arpin, C., Comunale, F., Bousquet, H., Tsai, F., Rico, F., Maiuri, P., Pernier, J., Bodin, S., Nicot, A.-S., et al. (2024) · Communications Biology · doi:10.1038/s42003-024-06168-8 · Cited by 8

Myotubular/centronuclear myopathy and central core disease

Nishino, I., Fujimura, C., & Racz, G. (2008) · Neurology India · doi:10.4103/0028-3886.43451 · Cited by 8

Correction: Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy

Böhm, J., Vasli, N., Maurer, M., Cowling, B. S., Shelton, G. D., Kreß, W., Toussaint, A., Prokic, I., Schara, U., Anderson, T. J., et al. (2013) · PLoS Genetics · doi:10.1371/annotation/22ca13f1-1ce9-4bb5-9c9e-98670f7c4240 · Cited by 8

Satellite cells deficiency and defective regeneration in dynamin 2‐related centronuclear myopathy

de Almeida, C., Bitoun, M., & Vainzof, M. (2021) · The FASEB Journal · doi:10.1096/fj.202001313rrr · Cited by 7

Barfly: Sculpting membranes at the Drosophila neuromuscular junction

Oh, E., & Robinson, I. M. (2011) · Developmental Neurobiology · doi:10.1002/dneu.20923 · Cited by 7

Aberrant phase separation drives membranous organelle remodeling and tumorigenesis

Wang, X., Jiang, A., Meng, Q., Jiang, T., Lu, H., Geng, X., Song, Z., Hu, X., Zhu, Y., Xu, W., et al. (2025) · Molecular Cell · doi:10.1016/j.molcel.2025.04.001 · Cited by 6

BIN1 in the Pursuit of Ousting the Alzheimer’s Reign: Impact on Amyloid and Tau Neuropathology

Kaur, I., Behl, T., Sundararajan, G., Panneerselvam, P., Vijayakumar, A. R., Senthilkumar, G. P., Venkatachalam, T., Jaglan, D., Yadav, S., Anwer, K., et al. (2023) · Neurotoxicity Research · doi:10.1007/s12640-023-00670-3 · Cited by 6

Noncentrosomal microtubules in C. elegans epithelia

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Fer1L5, a Dysferlin Homologue Present in Vesicles and Involved in C2C12 Myoblast Fusion and Membrane Repair

Kalyani, R. U., Perinbam, K., Jeyanthi, P., Al-Dhabi, N. A., Arasu, M. V., Esmail, G. A., Kim, Y. O., Kim, H., & Kim, H. (2020) · Biology · doi:10.3390/biology9110386 · Cited by 6

New variant of necklace fibres display peculiar lysosomal structures and mitophagy

Rinnenthal, J. L., Dittmayer, C., Irlbacher, K., Wacker, I. U., Schröder, R. R., Goebel, H., Butori, C., Villa, L., Sacconi, S., & Stenzel, W. (2018) · Neuromuscular Disorders · doi:10.1016/j.nmd.2018.06.010 · Cited by 6

Thermodynamics and Free Energy Landscape of BAR-Domain Dimerization from Molecular Simulations

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Exon skipping peptide-conjugated morpholinos downregulate dynamin 2 to rescue centronuclear myopathy

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Integrated multi‐omics approach reveals the role of striated muscle preferentially expressed protein kinase in skeletal muscle including its relationship with myospryn complex

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Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era

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BIN1 gene replacement reverses BIN1-related centronuclear myopathy

Ji, J., Giraud, Q., Diedhiou, N., Lipkow, E., Spiegelhalter, C., & Laporte, J. (2025) · Molecular Therapy · doi:10.1016/j.ymthe.2025.04.036 · Cited by 5

Mutations de l’amphiphysine 2 (BIN1) dans les myopathies centronucléaires récessives

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Accumulation of caveolin-3 protein is limited in damaged muscle in chicken muscular dystrophy

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Kongenitale Strukturmyopathien

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Centronuclear Myopathies

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Proteomic insight into human directed selection of the domesticated chicken Gallus gallus.

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Biochemical and molecular basis of muscle disease

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Mechanosensitive clathrin platforms anchor desmin intermediate filaments in skeletal musclePreprint

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Early Stage Morphogenesis of Transverse Tubules in Rat Cardiomyocytes: The Role of pBIN1

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Mutation studies in X-linked myotubular myopathy in three Indian families

Bijarnia, S., Puri, R. D., Jain, M., Kler, N., Roy, S., Urtizberea, J. A., Biancalana, V., & Verma, I. C. (2010) · The Indian Journal of Pediatrics · doi:10.1007/s12098-010-0057-6 · Cited by 4

Congenital (Structural) Myopathies

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SRSF2 is a key player in orchestrating the directional migration and differentiation of MyoD progenitors during skeletal muscle development

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The translational value of animal models in orphan medicines designations for rare paediatric neurological diseases

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Biopsie musculaire

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Dilated cardiomyopathy with centronuclear myopathy in a young male

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Structural Adaptation of the Excitation–Contraction Coupling Apparatus in Calsequestrin1-Null Mice during Postnatal Development

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X-linked myotubular myopathy: an untreated treatable disease

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Universal Proteomic Signature After Exercise‐Induced Muscle Injury in Muscular Dystrophies

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Bend it like BIN1: how a membrane-curving adaptor protein shapes cardiac physiology

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Unraveling calcium dysregulation and autoimmunity in immune mediated rippling muscle disease

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Animal Models for Inherited Muscle Diseases

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Hypotonic (Floppy) Infant

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Ultrastructural study of muscle

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Structural Characterization of Membrane-Curving Proteins

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The Congenital Myopathies

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C.O.1 Identification of a new gene mutated in autosomal recessive centronuclear myopathy, and functional links with the dominant form

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Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations

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G.P.38

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

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[Mutations in amphiphysin 2 (BIN1) cause autosomal recessive centronuclear myopathy.]

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