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

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

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

http://www.wikidata.org/entity/Q37438545

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Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus Recent advances using zebrafish animal models for muscle disease drug discovery Zebrafish models in translational research: tipping the scales toward advancements in human health.SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy Triadopathies: an emerging class of skeletal muscle diseases.Phospholamban overexpression in mice causes a centronuclear myopathy-like phenotype.Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2.Calcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy.Dynamin-2 mutations associated with centronuclear myopathy are hypermorphic and lead to T-tubule fragmentation.Centronuclear myopathies under attack: A plethora of therapeutic targets

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

http://www.wikidata.org/entity/Q37438545

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on 17 October 2013

@en

vedecký článok

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vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

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name

The myopathy-causing mutation ...... o and in developing zebrafish.

@en

The myopathy-causing mutation ...... o and in developing zebrafish.

@nl

type

label

The myopathy-causing mutation ...... o and in developing zebrafish.

@en

The myopathy-causing mutation ...... o and in developing zebrafish.

@nl

prefLabel

The myopathy-causing mutation ...... o and in developing zebrafish.

@en

The myopathy-causing mutation ...... o and in developing zebrafish.

@nl

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Disease Models & Mechanisms

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The myopathy-causing mutation ...... ro and in developing zebrafish

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Ann E Davidson

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Elizabeth M Gibbs

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James J Dowling

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William R Telfer

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P2860

Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores

The membrane-tubulating potential of amphiphysin 2/BIN1 is dependent on the microtubule-binding cytoplasmic linker protein 170 (CLIP-170)

Amphiphysin is necessary for organization of the excitation-contraction coupling machinery of muscles, but not for synaptic vesicle endocytosis in Drosophila

Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy

Functional partnership between amphiphysin and dynamin in clathrin-mediated endocytosis

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

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

Regulated interactions between dynamin and the actin-binding protein cortactin modulate cell shape

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

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

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157-161

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scholarly article

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10.1242/DMM.012286

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1

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7

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258055251

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24135484

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3882057

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