Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.
about
Multiple novel nesprin-1 and nesprin-2 variants act as versatile tissue-specific intracellular scaffoldsCytoskeletal interactions at the nuclear envelope mediated by nesprinsLINC complex alterations in DMD and EDMD/CMT fibroblastsMammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processesLINC complexes form by binding of three KASH peptides to domain interfaces of trimeric SUN proteinsNesprin-3 regulates endothelial cell morphology, perinuclear cytoskeletal architecture, and flow-induced polarizationMyotonic dystrophy protein kinase is critical for nuclear envelope integrityUnder Pressure: Mechanical Stress Management in the NucleusGenetics of Human and Canine Dilated CardiomyopathyBreaching the nuclear envelope in development and diseaseThe nuclear envelope LEM-domain protein emerinWhen lamins go bad: nuclear structure and diseaseEmerging directions in the genetics of atrial fibrillationThe nuclear envelope: an intriguing focal point for neurogenetic diseaseLinker of nucleoskeleton and cytoskeleton (LINC) complex-mediated actin-dependent nuclear positioning orients centrosomes in migrating myoblasts.The Nesprin family member ANC-1 regulates synapse formation and axon termination by functioning in a pathway with RPM-1 and β-CateninHeterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations.In silico synchronization reveals regulators of nuclear ruptures in lamin A/C deficient model cells.Structural insights into SUN-KASH complexes across the nuclear envelopeNuclear migration events throughout developmentHeading in the Right Direction: Understanding Cellular Orientation Responses to Complex Biophysical EnvironmentsNuclear envelope: positioning nuclei and organizing synapsesMuscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organizationRbfox-regulated alternative splicing is critical for zebrafish cardiac and skeletal muscle functionsAltered nuclear dynamics in MDX myofibers.LINC'ing form and function at the nuclear envelope.O-Linked β-N-acetylglucosamine (O-GlcNAc) regulates emerin binding to barrier to autointegration factor (BAF) in a chromatin- and lamin B-enriched "niche".Nucleocytoplasmic connections and deafness.The LINC complex is essential for hearing.Induction of a massive endoplasmic reticulum and perinuclear space expansion by expression of lamin B receptor mutants and the related sterol reductases TM7SF2 and DHCR7.Lamin A variants that cause striated muscle disease are defective in anchoring transmembrane actin-associated nuclear lines for nuclear movement.The interaction between nesprins and sun proteins at the nuclear envelope is critical for force transmission between the nucleus and cytoskeleton.Organelle positioning in muscles requires cooperation between two KASH proteins and microtubules.Opposing microtubule motors drive robust nuclear dynamics in developing muscle cells.Emerin organizes actin flow for nuclear movement and centrosome orientation in migrating fibroblasts.Novel nesprin-1 mutations associated with dilated cardiomyopathy cause nuclear envelope disruption and defects in myogenesis.Integrative data mining highlights candidate genes for monogenic myopathies.Linker of nucleoskeleton and cytoskeleton complex proteins in cardiac structure, function, and disease.Nesprin 1 is critical for nuclear positioning and anchorageLamina-associated polypeptide 2alpha loss impairs heart function and stress response in mice.
P2860
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P2860
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Nesprin-1 and -2 are involved ...... or nuclear envelope integrity.
@en
type
label
Nesprin-1 and -2 are involved ...... or nuclear envelope integrity.
@en
prefLabel
Nesprin-1 and -2 are involved ...... or nuclear envelope integrity.
@en
P2093
P2860
P356
P1476
Nesprin-1 and -2 are involved ...... or nuclear envelope integrity.
@en
P2093
Anja Feuer
Beate Schlotter-Weigel
Cassandra D Ragnauth
Catherine M Shanahan
Christina Wasner
Cornelia Bethmann
Derek T Warren
Jason A Mellad
Jeremy N Skepper
John D Davies
P2860
P304
P356
10.1093/HMG/DDM238
P577
2007-08-29T00:00:00Z