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抗Human SYNE1 抗体:
抗Mouse (Murine) SYNE1 抗体:
抗Rat (Rattus) SYNE1 抗体:
Mouse (Murine) Monoclonal SYNE1 Primary Antibody for ICC, IF - ABIN108653
Korkhov, Zuber: Direct observation of molecular arrays in the organized smooth endoplasmic reticulum. in BMC cell biology 2009
Show all 3 Pubmed References
Human Polyclonal SYNE1 Primary Antibody for ICC, IF - ABIN4357268
Göb, Schmitt, Benavente, Alsheimer: Mammalian sperm head formation involves different polarization of two novel LINC complexes. in PLoS ONE 2010
The functional integrity of lamin (显示 LMNA 抗体) and nesprin-1 is thus required to modulate the FHOD1 (显示 FHOD1 抗体) activity and the inside-out mechanical coupling that tunes the cell internal stiffness to match that of its soft, physiological-like environment.
Authors screened 937 BPD (显示 MOD(MDG4) 抗体) samples for genetic variation in SYNE1 exons 14-33, which covers the CPG2 region, using high-resolution melt analysis. Nine patients are compound heterozygotes for variants in SYNE1/CPG2, suggesting that rare coding variants may contribute significantly towards the complex genetic architecture underlying BPD (显示 MOD(MDG4) 抗体).
The frequency of CACNA1C (显示 CACNA1C 抗体) rs10848683 in genetic high-risk individuals was double that in controls. For SYNE1 rs214950, higher frequencies were found in the genetic high-risk group than in controls. Polymorphisms in CACNA1C (显示 CACNA1C 抗体) and SYNE1 could confer a greater risk of developing Schizophrenia and Bipolar Disorder in individuals who are already at high risk because of their family history.
three novel rare variants (R8272Q, S8381C and N8406K) in the C-terminus of the SYNE1 gene (nesprin-1) were identified in seven dilated cardiomyopathy patients by mutation screening. Expression of these mutants caused nuclear morphology defects and reduced lamin A/C (显示 LMNA 抗体) and SUN2 (显示 SUN2 抗体) staining at the Nuclear envelope.
We reported a novel mutation in exon 46 on codon 2304 (G2304R) of the SYNE1 gene in a Chinese family with Emery-Dreifuss muscular dystrophy-like features, and 100 healthy individuals did not show such mutation.
Nonsense mutation in the ultimate exon of full-length SYNE1 causes congenital onset of muscular weakness with distal arthrogryposis.
The results show that nesprin-1-alpha2 is dynamically controlled and may be involved in some process occurring during early myofibre formation, such as re-positioning of nuclei.
findings revise the view that SYNE1 ataxia causes mainly a relatively pure cerebellar recessive ataxia and that it is largely limited to Quebec. Instead, complex phenotypes with a wide range of extra-cerebellar neurological and nonneurological dysfunctions are frequent, including in particular motor neuron and brainstem dysfunction.
This study demonstrate four novel truncating mutations in SYNE1 in pedigrees from British, Sri Lankan and Turkish origin in patient with cerebellar ataxia.
A full length transcript homologous to rat CPG2 exists within human SYNE1. A full length transcript homologous to rat CPG2 exists within human SYNE1.
In agreement with the association of Nesprin1alpha with photoreceptor ciliary rootlets and the functional interaction between rootletin (显示 CROCC 抗体) and Nesprin1 in fibroblasts, the authors demonstrate that multiple isoforms of Nesprin1 are integral components of ciliary rootlets of multiciliated ependymal and tracheal cells.
Nesprin-1alpha recruits Akap450 (显示 AKAP9 抗体) to the nuclear envelope (NE)independently of kinesin and that Akap450 (显示 AKAP9 抗体), but not other centrosomal proteins, is required for microtubule nucleation from the NE.
Nesprin 1alpha2, which lacks actin-binding domains, was crucial for postnatal viability, nuclear positioning, and skeletal muscle function.
the positioning of nuclei requires PCM-1 (显示 MBD1 抗体), a protein of the centrosome that relocalizes to the nuclear envelope at the onset of differentiation in a manner that is dependent on the presence of nesprin-1.
Results suggest that the loss of function of KASH-LESS variant of Nesprin1 giant resulting from Nesprin1 nonsense mutations underlies the molecular etiology of autosomal recessive cerebellar ataxia Type I.
Disruption of both nesprin 1 and desmin (显示 DES 抗体) results in decreased lifespan, body weight and muscle strength.
nesprin-dependent recruitment of kinesin-1 to the nuclear envelope through the interaction of a conserved LEWD motif with kinesin light chain might be a general mechanism for cell-type-specific nuclear positioning during development.
a role for Nesprin-1 in the DNA damage response pathway
Loss of Nesprin 1 or 2, or both, led to impairment of gene expression changes in response to biomechanical stimuli. These data suggest a model whereby biomechanical signals are communicated from proteins of the outer nuclear membrane
Nesprin-1 played important roles in mouse embryonic stem cell differentiation into cardiomyocytes.
This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described.
, myocyte nuclear envelope protein 1
, nesprin 1
, nuclear envelope spectrin repeat-1
, synaptic nuclear envelope protein 1
, synaptic nuclei expressed gene 1
, nuclear envelope spectrin repeat protein 1
, synaptic nuclear envelope 1
, spectrin repeat containing, nuclear envelope 1
, chromosome 6 open reading frame 98