Title: Defective tubulation associated with the myopathy causing S619L DNM2 mutation Running title: Pathogenesis of DNM2 mutation

[1]  J. Dowling,et al.  Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy , 2013, Journal of Molecular Medicine.

[2]  Jun Z. Li,et al.  Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. , 2012, American journal of human genetics.

[3]  Jocelyn Laporte,et al.  Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy , 2012, Human mutation.

[4]  K. North,et al.  Mild Functional Differences of Dynamin 2 Mutations Associated to Centronuclear Myopathy and Charcot-Marie-Tooth Peripheral Neuropathy , 2011, PloS one.

[5]  S. Schmid,et al.  Common Membrane Trafficking Defects of Disease‐Associated Dynamin 2 Mutations , 2011, Traffic.

[6]  I. Nishino,et al.  Molecular Pathogenesis of Genetic and Inherited Diseases Increased Expression of Wild-Type or a Centronuclear Myopathy Mutant of Dynamin 2 in Skeletal Muscle of Adult Mice Leads to Structural Defects and Muscle Weakness , 2011 .

[7]  I. Nishino,et al.  Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies , 2011, Acta Neuropathologica.

[8]  A. Dietz,et al.  Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations , 2011, Journal of Neurology.

[9]  N. Romero,et al.  Dynamin 2 mutations associated with human diseases impair clathrin‐mediated receptor endocytosis , 2009, Human mutation.

[10]  K. Takei,et al.  Dynamic instability of microtubules requires dynamin 2 and is impaired in a Charcot-Marie-Tooth mutant , 2009, The Journal of cell biology.

[11]  L. Daviet,et al.  The membrane-tubulating potential of amphiphysin 2/BIN1 is dependent on the microtubule-binding cytoplasmic linker protein 170 (CLIP-170). , 2009, European journal of cell biology.

[12]  Andrew P. Vreede,et al.  Loss of Myotubularin Function Results in T-Tubule Disorganization in Zebrafish and Human Myotubular Myopathy , 2009, PLoS genetics.

[13]  K. Druschky,et al.  Dynamin 2-related centronuclear myopathy: clinical, histological and genetic aspects of further patients and review of the literature. , 2008, Clinical neuropathology.

[14]  N. Romero,et al.  Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset , 2007, Annals of neurology.

[15]  C. Wallgren‐Pettersson,et al.  Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy , 2007, Nature Genetics.

[16]  J. Laporte,et al.  Ex vivo BIN1/Amphiphysin 2-induced tubulation of membranes, and visualization of Dynamin 2 recruitment to the membrane tubules , 2007 .

[17]  Danqing Zhu,et al.  Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease , 2005, Nature Genetics.

[18]  M. McNiven,et al.  Dynamin 2 binds γ-tubulin and participates in centrosome cohesion , 2004, Nature Cell Biology.

[19]  Markus R Wenk,et al.  Amphiphysin 2 (Bin1) and T-Tubule Biogenesis in Muscle , 2002, Science.

[20]  N. Gay,et al.  Amphiphysin is necessary for organization of the excitation-contraction coupling machinery of muscles, but not for synaptic vesicle endocytosis in Drosophila. , 2001, Genes & development.

[21]  M. McNiven,et al.  Regulated Interactions between Dynamin and the Actin-Binding Protein Cortactin Modulate Cell Shape , 2000, The Journal of cell biology.

[22]  Pietro De Camilli,et al.  Functional partnership between amphiphysin and dynamin in clathrin-mediated endocytosis , 1999, Nature Cell Biology.

[23]  K. Howell,et al.  Role of dynamin in the formation of transport vesicles from the trans-Golgi network. , 1998, Science.