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

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

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

http://www.wikidata.org/entity/Q28236802

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Pathogenic mechanisms in centronuclear myopathies The cytoskeletal protein Ndel1 regulates dynamin 2 GTPase activity Dynamin GTPase regulation is altered by PH domain mutations found in centronuclear myopathy patients A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H Charcot-Marie-Tooth disease and intracellular traffic Congenital defects in neutrophil dynamics Defective membrane remodeling in neuromuscular diseases: insights from animal models The role of phosphoinositide-regulated actin reorganization in chemotaxis and cell migration Zebrafish as a Model to Investigate Dynamin 2-Related Diseases.TRPV4 channel activity is modulated by direct interaction of the ankyrin domain to PI(4,5)P₂ SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations Mutations in dynamin 2 cause dominant centronuclear myopathy AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J Protein partners of dynamin-1 in the retina Molecular mechanism and physiological functions of clathrin-mediated endocytosis Role of Rab GTPases in membrane traffic and cell physiology Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.Reducing dynamin 2 expression rescues X-linked centronuclear myopathy Rapid and efficient clathrin-mediated endocytosis revealed in genome-edited mammalian cells.Integrative data mining highlights candidate genes for monogenic myopathies.Dynamin 2-dependent endocytosis is required for normal megakaryocyte development in mice.Classification and diagnosis of the inherited neuropathies.The Rhodadyns, a New Class of Small Molecule Inhibitors of Dynamin GTPase Activity.Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy.The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan Mitofusins and the mitochondrial permeability transition: the potential downside of mitochondrial fusion Two dynamin-2 genes are required for normal zebrafish development 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.A novel multiple hypothesis based particle tracking method for clathrin mediated endocytosis analysis using fluorescence microscopy The myotubularin family of lipid phosphatases in disease and in spermatogenesis Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2.Allosteric modulation of Drp1 mechanoenzyme assembly and mitochondrial fission by the variable domain.An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.Clinical utility gene card for: Centronuclear and myotubular myopathies.Small heat shock proteins in inherited peripheral neuropathies.

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P2860

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

http://www.wikidata.org/entity/Q28236802

description

2005 nî lūn-bûn

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2005 թուականի Մարտին հրատարակուած գիտական յօդուած

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2005 թվականի մարտին հրատարակված գիտական հոդված

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2005年の論文

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Mutations in the pleckstrin ho ...... te Charcot-Marie-Tooth disease

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Mutations in the pleckstrin ho ...... te Charcot-Marie-Tooth disease

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Mutations in the pleckstrin ho ...... te Charcot-Marie-Tooth disease

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Nature Genetics

P1476

Mutations in the pleckstrin ho ...... te Charcot-Marie-Tooth disease

@en

P2093

Danqing Zhu

http://www.w3.org/2001/XMLSchema#string

Garth Nicholson

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Gina Walizada

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John Merory

http://www.w3.org/2001/XMLSchema#string

Judith E Stenger

http://www.w3.org/2001/XMLSchema#string

Kristl Claeys

http://www.w3.org/2001/XMLSchema#string

Maher Noureddine

http://www.w3.org/2001/XMLSchema#string

Marcy C Speer

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Marina Kennerson

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P2860

Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35

Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2.

Modeling of loops in protein structures

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

Dynamin self-assembles into rings suggesting a mechanism for coated vesicle budding

Dynamin and its role in membrane fission.

Domain structure and function of dynamin probed by limited proteolysis.

SH3-domain-containing proteins function at distinct steps in clathrin-coated vesicle formation.

Importance of the pleckstrin homology domain of dynamin in clathrin-mediated endocytosis.

Synaptic vesicle endocytosis impaired by disruption of dynamin-SH3 domain interactions.

P2888

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289-94

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scholarly article

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10.1038/NG1514

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P433

3

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P478

37

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Margaret A. Pericak-Vance

Peter De Jonghe

Jeffery M. Vance

Stephan Züchner

Kristien Verhoeven

Sofia A. Oliveira

Vincent Timmerman

P577

2005-03-01T00:00:00Z

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8001482

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15731758

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