Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice. - sprookjes - yvandenbroek - TriplyDB

Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice.

Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice.

http://www.wikidata.org/entity/Q37292920

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Multiple novel nesprin-1 and nesprin-2 variants act as versatile tissue-specific intracellular scaffolds LINC complexes form by binding of three KASH peptides to domain interfaces of trimeric SUN proteins Nesprin-3 regulates endothelial cell morphology, perinuclear cytoskeletal architecture, and flow-induced polarization Breaching the nuclear envelope in development and disease The nuclear envelope: an intriguing focal point for neurogenetic disease Linker of nucleoskeleton and cytoskeleton (LINC) complex-mediated actin-dependent nuclear positioning orients centrosomes in migrating myoblasts.Mammalian sperm head formation involves different polarization of two novel LINC complexes Structure of Sad1-UNC84 Homology (SUN) Domain Defines Features of Molecular Bridge in Nuclear Envelope Nuclear migration events throughout development Nuclear envelope: positioning nuclei and organizing synapses SUN1/2 and Syne/Nesprin-1/2 complexes connect centrosome to the nucleus during neurogenesis and neuronal migration in mice Organelle positioning in muscles requires cooperation between two KASH proteins and microtubules.Emerin organizes actin flow for nuclear movement and centrosome orientation in migrating fibroblasts.Translocating myonuclei have distinct leading and lagging edges that require kinesin and dynein Novel nesprin-1 mutations associated with dilated cardiomyopathy cause nuclear envelope disruption and defects in myogenesis.Linker of nucleoskeleton and cytoskeleton complex proteins in cardiac structure, function, and disease.Nesprin 1 is critical for nuclear positioning and anchorage The Soft- and Hard-Heartedness of Cardiac Fibroblasts: Mechanotransduction Signaling Pathways in Fibrosis of the Heart.Interactions between nuclei and the cytoskeleton are mediated by SUN-KASH nuclear-envelope bridges.Lamin-binding Proteins Altered chromosomal positioning, compaction, and gene expression with a lamin A/C gene mutation.Uncoordinated transcription and compromised muscle function in the lmna-null mouse model of Emery- Emery-Dreyfuss muscular dystrophy.Nesprin 1α2 is essential for mouse postnatal viability and nuclear positioning in skeletal muscle Stabilization of the spectrin-like domains of nesprin-1α by the evolutionarily conserved "adaptive" domain.Actomyosin tension exerted on the nucleus through nesprin-1 connections influences endothelial cell adhesion, migration, and cyclic strain-induced reorientation.Kinesin-1 and dynein at the nuclear envelope mediate the bidirectional migrations of nuclei Drosophila Syncrip modulates the expression of mRNAs encoding key synaptic proteins required for morphology at the neuromuscular junction.LINC complexes in health and disease.KASH protein Syne-2/Nesprin-2 and SUN proteins SUN1/2 mediate nuclear migration during mammalian retinal development.Nesprins anchor kinesin-1 motors to the nucleus to drive nuclear distribution in muscle cells.Nuclear envelope in nuclear positioning and cell migration Targeted ablation of nesprin 1 and nesprin 2 from murine myocardium results in cardiomyopathy, altered nuclear morphology and inhibition of the biomechanical gene response.Nesprins: tissue-specific expression of epsilon and other short isoforms.Syd/JIP3 and JNK signaling are required for myonuclear positioning and muscle function.A variant of Nesprin1 giant devoid of KASH domain underlies the molecular etiology of autosomal recessive cerebellar ataxia type I Nesprin provides elastic properties to muscle nuclei by cooperating with spectraplakin and EB1.Nesprins, but not sun proteins, switch isoforms at the nuclear envelope during muscle development.The functions of the nuclear envelope in mediating the molecular crosstalk between the nucleus and the cytoplasm.Evolutionary diversification of the BetaM interactome acquired through co-option of the ATP1B4 gene in placental mammals.The nuclear envelope protein Nesprin-2 has roles in cell proliferation and differentiation during wound healing.

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P2860

Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice.

http://www.wikidata.org/entity/Q37292920

description

2008 nî lūn-bûn

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2008年の論文

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年學術文章

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2008年學術文章

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2008年學術文章

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name

Disruption of nesprin-1 produc ...... trophy-like phenotype in mice.

@en

Disruption of nesprin-1 produc ...... trophy-like phenotype in mice.

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type

label

Disruption of nesprin-1 produc ...... trophy-like phenotype in mice.

@en

Disruption of nesprin-1 produc ...... trophy-like phenotype in mice.

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prefLabel

Disruption of nesprin-1 produc ...... trophy-like phenotype in mice.

@en

Disruption of nesprin-1 produc ...... trophy-like phenotype in mice.

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Human Molecular Genetics

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Disruption of nesprin-1 produc ...... strophy-like phenotype in mice

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Didier Hodzic

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

Elizabeth M McNally

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Eric Kessler

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Glenn Morris

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Judy U Earley

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K Natalie Randles

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Megan J Puckelwartz

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Michele Hadhazy

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Peter Pytel

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Stephanie K Mewborn

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P2860

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

Syne-1, a dystrophin- and Klarsicht-related protein associated with synaptic nuclei at the neuromuscular junction

Nesprins: a novel family of spectrin-repeat-containing proteins that localize to the nuclear membrane in multiple tissues

Myne-1, a spectrin repeat transmembrane protein of the myocyte inner nuclear membrane, interacts with lamin A/C

Coupling of the nucleus and cytoplasm: role of the LINC complex

NUANCE, a giant protein connecting the nucleus and actin cytoskeleton

Nesprin-1alpha self-associates and binds directly to emerin and lamin A in vitro

Structural requirements for the assembly of LINC complexes and their function in cellular mechanical stiffness

Episodic coronary artery vasospasm and hypertension develop in the absence of Sur2 K(ATP) channels

Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy

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607-620

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10.1093/HMG/DDN386

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4

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18

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James M Holaska

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2008-11-13T00:00:00Z

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23472684

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19008300

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2722216

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