Dynamin 2 (DNM2) as Cause of, and Modifier for, Human Neuromuscular Disease (Q60054869)

25 April 2019

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15 December 2019

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6 November 2020

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cites work

Dynamin-like protein encoded by the Drosophila shibire gene associated with vesicular traffic

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12 December 2020

Biogenesis of transverse tubules and triads: immunolocalization of the 1,4-dihydropyridine receptor, TS28, and the ryanodine receptor in rabbit skeletal muscle developing in situ

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12 December 2020

Biogenesis of transverse tubules in skeletal muscle in vitro.

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12 December 2020

Identification of dynamin, a novel mechanochemical enzyme that mediates interactions between microtubules

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12 December 2020

Role of GTP hydrolysis in fission of caveolae directly from plasma membranes

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12 December 2020

Dynamin at the neck of caveolae mediates their budding to form transport vesicles by GTP-driven fission from the plasma membrane of endothelium

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12 December 2020

Differential distribution of dynamin isoforms in mammalian cells

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12 December 2020

Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy

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12 December 2020

Nucleotide-dependent conformational changes in dynamin: evidence for a mechanochemical molecular spring

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12 December 2020

Role of cholesterol in developing T-tubules: analogous mechanisms for T-tubule and caveolae biogenesis

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12 December 2020

Sequential docking, molecular differentiation, and positioning of T-Tubule/SR junctions in developing mouse skeletal muscle

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12 December 2020

Amphiphysin 2 (Bin1) and T-tubule biogenesis in muscle

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12 December 2020

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

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12 December 2020

Mutations in dynamin 2 cause dominant centronuclear myopathy

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12 December 2020

Dynamin and the actin cytoskeleton cooperatively regulate plasma membrane invagination by BAR and F-BAR proteins

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12 December 2020

Cytoplasmic gamma-actin is not required for skeletal muscle development but its absence leads to a progressive myopathy

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12 December 2020

Autophagic vacuolar myopathy.

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12 December 2020

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

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12 December 2020

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset

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12 December 2020

Autophagy: process and function

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12 December 2020

An intramolecular signaling element that modulates dynamin function in vitro and in vivo

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12 December 2020

Dynamic instability of microtubules requires dynamin 2 and is impaired in a Charcot-Marie-Tooth mutant

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12 December 2020

Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis

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12 December 2020

Dissecting dynamin's role in clathrin-mediated endocytosis.

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12 December 2020

Dynamin 2 and human diseases.

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12 December 2020

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy

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12 December 2020

Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers

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12 December 2020

Dynamin GTPase regulation is altered by PH domain mutations found in centronuclear myopathy patients

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12 December 2020

RYR1 mutations are a common cause of congenital myopathies with central nuclei

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12 December 2020

A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice

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12 December 2020

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

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12 December 2020

Direct dynamin-actin interactions regulate the actin cytoskeleton

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12 December 2020

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

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12 December 2020

Mice lacking microRNA 133a develop dynamin 2–dependent centronuclear myopathy

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12 December 2020

Common membrane trafficking defects of disease-associated dynamin 2 mutations

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12 December 2020

T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases

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12 December 2020

Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy.

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12 December 2020

Dynamin, a membrane-remodelling GTPase

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12 December 2020

A Centronuclear Myopathy - Dynamin 2 Mutation Impairs Autophagy in Mice

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12 December 2020

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

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12 December 2020

Dynamin 2 mutations in Charcot-Marie-Tooth neuropathy highlight the importance of clathrin-mediated endocytosis in myelination

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12 December 2020

The evolution of dynamin to regulate clathrin-mediated endocytosis: speculations on the evolutionarily late appearance of dynamin relative to clathrin-mediated endocytosis

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12 December 2020

Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.

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12 December 2020

Defective autophagy and mTORC1 signaling in myotubularin null mice

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12 December 2020

Caveolae as plasma membrane sensors, protectors and organizers.

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12 December 2020

A novel mutation in the DNM2 gene impairs dynamin 2 localization in skeletal muscle of a patient with late onset centronuclear myopathy.

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12 December 2020

Two dynamin-2 genes are required for normal zebrafish development

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12 December 2020

Mechanisms for fiber-type specificity of skeletal muscle atrophy

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12 December 2020

Mechanics of dynamin-mediated membrane fission

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12 December 2020

Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy

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12 December 2020

The myotubularin-amphiphysin 2 complex in membrane tubulation and centronuclear myopathies

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12 December 2020

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

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12 December 2020

A mutation associated with centronuclear myopathy enhances the size and stability of dynamin 2 complexes in cells

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12 December 2020

The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish.

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12 December 2020

Dynamin 2 the rescue for centronuclear myopathy.

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12 December 2020

Reducing dynamin 2 expression rescues X-linked centronuclear myopathy

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12 December 2020

Triadopathies: an emerging class of skeletal muscle diseases

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12 December 2020

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

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12 December 2020

N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy.

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12 December 2020

BIN1 membrane curvature sensing and generation show autoinhibition regulated by downstream ligands and PI(4,5)P2.

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12 December 2020

BIN1/M-Amphiphysin2 induces clustering of phosphoinositides to recruit its downstream partner dynamin

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12 December 2020

Pathogenic mechanisms in centronuclear myopathies

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12 December 2020

A hemi-fission intermediate links two mechanistically distinct stages of membrane fission

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12 December 2020

Dynamin-2 mutations associated with centronuclear myopathy are hypermorphic and lead to T-tubule fragmentation

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12 December 2020

Crystal structure of the dynamin tetramer

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12 December 2020

Identification and function of conformational dynamics in the multidomain GTPase dynamin

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12 December 2020

Membrane fission by dynamin: what we know and what we need to know

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12 December 2020

Cardiac T-Tubule Microanatomy and Function

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12 December 2020

Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice

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12 December 2020

Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells.

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12 December 2020

Myofibril contraction and crosslinking drive nuclear movement to the periphery of skeletal muscle.

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12 December 2020

Bin1 directly remodels actin dynamics through its BAR domain.

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12 December 2020

Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation.

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12 December 2020

Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy

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12 December 2020

The genetics of congenital myopathies.

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12 December 2020

Single Intramuscular Injection of AAV-shRNA Reduces DNM2 and Prevents Myotubular Myopathy in Mice.

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12 December 2020

Regulation of Clathrin-Mediated Endocytosis.

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12 December 2020

An integrated modelling methodology for estimating the prevalence of centronuclear myopathy

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12 December 2020