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    Syne1 spectrin repeat containing, nuclear envelope 1 [ Mus musculus (house mouse) ]

    Gene ID: 64009, updated on 27-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    In agreement with the association of Nesprin1alpha with photoreceptor ciliary rootlets and the functional interaction between rootletin and Nesprin1 in fibroblasts, the authors demonstrate that multiple isoforms of Nesprin1 are integral components of ciliary rootlets of multiciliated ependymal and tracheal cells.

    Multiple Isoforms of Nesprin1 Are Integral Components of Ciliary Rootlets.
    Potter C, Zhu W, Razafsky D, Ruzycki P, Kolesnikov AV, Doggett T, Kefalov VJ, Betleja E, Mahjoub MR, Hodzic D., Free PMC Article

    08/4/2018
    Nesprin-1alpha recruits Akap450 to the nuclear envelope (NE)independently of kinesin and that Akap450, but not other centrosomal proteins, is required for microtubule nucleation from the NE.

    Nesprin-1α-Dependent Microtubule Nucleation from the Nuclear Envelope via Akap450 Is Necessary for Nuclear Positioning in Muscle Cells.
    Gimpel P, Lee YL, Sobota RM, Calvi A, Koullourou V, Patel R, Mamchaoui K, Nédélec F, Shackleton S, Schmoranzer J, Burke B, Cadot B, Gomes ER., Free PMC Article

    08/4/2018
    Nesprin 1alpha2, which lacks actin-binding domains, was crucial for postnatal viability, nuclear positioning, and skeletal muscle function.

    Nesprin 1α2 is essential for mouse postnatal viability and nuclear positioning in skeletal muscle.
    Stroud MJ, Feng W, Zhang J, Veevers J, Fang X, Gerace L, Chen J., Free PMC Article

    09/16/2017
    the positioning of nuclei requires PCM-1, 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.

    Nuclear alignment in myotubes requires centrosome proteins recruited by nesprin-1.
    Espigat-Georger A, Dyachuk V, Chemin C, Emorine L, Merdes A.

    08/5/2017
    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.

    A variant of Nesprin1 giant devoid of KASH domain underlies the molecular etiology of autosomal recessive cerebellar ataxia type I.
    Razafsky D, Hodzic D., Free PMC Article

    04/2/2016
    Disruption of both nesprin 1 and desmin results in decreased lifespan, body weight and muscle strength.

    Disruption of both nesprin 1 and desmin results in nuclear anchorage defects and fibrosis in skeletal muscle.
    Chapman MA, Zhang J, Banerjee I, Guo LT, Zhang Z, Shelton GD, Ouyang K, Lieber RL, Chen J., Free PMC Article

    07/25/2015
    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.

    Nesprins anchor kinesin-1 motors to the nucleus to drive nuclear distribution in muscle cells.
    Wilson MH, Holzbaur EL., Free PMC Article

    02/21/2015
    a role for Nesprin-1 in the DNA damage response pathway

    Nesprin-1 role in DNA damage response.
    Sur I, Neumann S, Noegel AA., Free PMC Article

    01/24/2015
    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

    Targeted ablation of nesprin 1 and nesprin 2 from murine myocardium results in cardiomyopathy, altered nuclear morphology and inhibition of the biomechanical gene response.
    Banerjee I, Zhang J, Moore-Morris T, Pfeiffer E, Buchholz KS, Liu A, Ouyang K, Stroud MJ, Gerace L, Evans SM, McCulloch A, Chen J., Free PMC Article

    12/20/2014
    Nesprin-1 played important roles in mouse embryonic stem cell differentiation into cardiomyocytes.

    [Effect of nesprin-1 in the differentiation of mouse embryonic stem cells into cardiomyocytes].
    Gao F, Yi QJ, Tian YJ, Wang FJ, Liu GX.

    06/1/2013
    Data show that low expression of Syne1 splicing isoforms accounts for the wider and irregular nuclear envelope inter-membrane space in embryonic stem cells.

    Increased expression of Syne1/nesprin-1 facilitates nuclear envelope structure changes in embryonic stem cell differentiation.
    Smith ER, Zhang XY, Capo-Chichi CD, Chen X, Xu XX., Free PMC Article

    01/28/2012
    Nesprins, but not sun proteins, switch isoforms at the nuclear envelope during muscle development

    Nesprins, but not sun proteins, switch isoforms at the nuclear envelope during muscle development.
    Randles KN, Lam le T, Sewry CA, Puckelwartz M, Furling D, Wehnert M, McNally EM, Morris GE., Free PMC Article

    12/11/2010
    analysis of nsprin-1 mutations in human and murine cardiomyopathy

    Nesprin-1 mutations in human and murine cardiomyopathy.
    Puckelwartz MJ, Kessler EJ, Kim G, Dewitt MM, Zhang Y, Earley JU, Depreux FF, Holaska J, Mewborn SK, Pytel P, McNally EM., Free PMC Article

    11/27/2010
    Nesprin 1 is essential for normal positioning and anchorage of nuclei in skeletal muscle.

    Nesprin 1 is critical for nuclear positioning and anchorage.
    Zhang J, Felder A, Liu Y, Guo LT, Lange S, Dalton ND, Gu Y, Peterson KL, Mizisin AP, Shelton GD, Lieber RL, Chen J., Free PMC Article

    03/22/2010
    The SUN-domain proteins SUN1 and SUN2 and the KASH-domain proteins Syne-1/Nesprin-1 and Syne-2/Nesprin-2 play critical roles in neurogenesis and neuronal migration in mice

    SUN1/2 and Syne/Nesprin-1/2 complexes connect centrosome to the nucleus during neurogenesis and neuronal migration in mice.
    Zhang X, Lei K, Yuan X, Wu X, Zhuang Y, Xu T, Xu R, Han M., Free PMC Article

    01/21/2010
    Nesprin-1 plays role in neuromuscular disease and Emery Dreifuss muscular dystrophy.

    Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice.
    Puckelwartz MJ, Kessler E, Zhang Y, Hodzic D, Randles KN, Morris G, Earley JU, Hadhazy M, Holaska JM, Mewborn SK, Pytel P, McNally EM., Free PMC Article

    01/21/2010
    TorsinA also associated with the KASH domains of nesprin-1 and -2

    TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton.
    Nery FC, Zeng J, Niland BP, Hewett J, Farley J, Irimia D, Li Y, Wiche G, Sonnenberg A, Breakefield XO., Free PMC Article

    01/21/2010
    Muscle nuclei failed to aggregate at the NMJ in transgenic mice, demonstrating that localization and positioning of synaptic nuclei require Syne proteins.

    Syne proteins anchor muscle nuclei at the neuromuscular junction.
    Grady RM, Starr DA, Ackerman GL, Sanes JR, Han M., Free PMC Article

    01/21/2010
    The Nesprin-1 is essential for the interaction with a C-terminal region in SUN1 protein.

    The inner nuclear membrane protein Sun1 mediates the anchorage of Nesprin-2 to the nuclear envelope.
    Padmakumar VC, Libotte T, Lu W, Zaim H, Abraham S, Noegel AA, Gotzmann J, Foisner R, Karakesisoglou I.

    01/21/2010
    The KASH-domain-containing proteins Syne-1 and Syne-2 play crucial roles in anchoring both synaptic and non-synaptic myonuclei that are important for proper motor neuron innervation and respiration.

    Syne-1 and Syne-2 play crucial roles in myonuclear anchorage and motor neuron innervation.
    Zhang X, Xu R, Zhu B, Yang X, Ding X, Duan S, Xu T, Zhuang Y, Han M.

    01/21/2010
    SUN1 interacts with nuclear lamin A and cytoplasmic nesprins (nesprin-1 and nesprin-2)to provide a physical connection between the nuclear lamina and the cytoskeleton.

    SUN1 interacts with nuclear lamin A and cytoplasmic nesprins to provide a physical connection between the nuclear lamina and the cytoskeleton.
    Haque F, Lloyd DJ, Smallwood DT, Dent CL, Shanahan CM, Fry AM, Trembath RC, Shackleton S., Free PMC Article

    01/21/2010
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