当前位置： SCI文献检索 > NEUROBIOLOGY OF DISEASE期刊下所有文献 > The KASH-containing isoform of Nesprin1 giant associates with ciliary rootlets of ependymal cells.

The KASH-containing isoform of Nesprin1 giant associates with ciliary rootlets of ependymal cells.

Abstract：

:Biallelic nonsense mutations of SYNE1 underlie a variable array of cerebellar and non-cerebellar pathologies of unknown molecular etiology. SYNE1 encodes multiple isoforms of Nesprin1 that associate with the nuclear envelope, with large cerebellar synapses and with ciliary rootlets of photoreceptors. Using two novel mouse models, we determined the expression pattern of Nesprin1 isoforms in the cerebellum whose integrity and functions are invariably affected by SYNE1 mutations. We further show that a giant isoform of Nesprin1 associates with the ciliary rootlets of ependymal cells that line brain ventricles and establish that this giant ciliary isoform of Nesprin1 harbors a KASH domain. Whereas cerebellar phenotypes are not recapitulated in Nes1gSTOP/STOP mice, these mice display a significant increase of ventricular volume. Together, these data fuel novel hypotheses about the molecular pathogenesis of SYNE1 mutations and support that KASH proteins may localize beyond the nuclear envelope in vivo.

journal_name

Neurobiol Dis

journal_title

Neurobiology of disease

authors

Potter C,Razafsky D,Wozniak D,Casey M,Penrose S,Ge X,Mahjoub MR,Hodzic D

doi

10.1016/j.nbd.2018.04.006

subject

Has Abstract

pub_date

2018-07-01 00:00:00

pages

82-91

eissn

0969-9961

issn

1095-953X

pii

S0969-9961(18)30114-1

journal_volume

115

pub_type

杂志文章

相关文献

NEUROBIOLOGY OF DISEASE文献大全
  • Perinatal human hypoxia-ischemia vulnerability correlates with brain calcification.

    abstract：:Deregulation of intracellular calcium homeostasis is widely considered as one of the underlying pathophysiological mechanisms of hypoxic-ischemic brain injury. Whether this alteration can result in cerebral calcification was investigated in basal ganglia, cerebral cortex, and hippocampus of human premature and term ne...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1006/nbdi.2000.0332

    authors： Rodríguez MJ,Ursu G,Bernal F,Cusí V,Mahy N

    更新日期：2001-02-01 00:00:00

  • High-fructose intake as risk factor for neurodegeneration: Key role for carboxy methyllysine accumulation in mice hippocampal neurons.

    abstract：:Several studies indicate the involvement of advanced glycation end-products (AGEs) in neurodegenerative diseases. Moreover, the rising consumption of fructose in industrialized countries has been related to cognitive impairment, but the impact of fructose-derived AGEs on hippocampus has never been investigated. The pr...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2016.02.005

    authors： Mastrocola R,Nigro D,Cento AS,Chiazza F,Collino M,Aragno M

    更新日期：2016-05-01 00:00:00

  • Different methylation of the TNF-alpha promoter in cortex and substantia nigra: Implications for selective neuronal vulnerability.

    abstract：:Increasing evidence has linked inflammatory processes to neurodegenerative disorders, including Alzheimer's and Parkinson's disease (PD). Tumor necrosis factor alpha (TNF-alpha) is a key inflammatory cytokine and several studies linked increased TNF-alpha to dopaminergic cell death in PD. The TNF-alpha promoter sequen...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2008.09.010

    authors： Pieper HC,Evert BO,Kaut O,Riederer PF,Waha A,Wüllner U

    更新日期：2008-12-01 00:00:00

  • Leucine-rich repeat kinase 2 functionally interacts with microtubules and kinase-dependently modulates cell migration.

    abstract：:Recent studies indicate that the Parkinson's disease-linked leucine-rich repeat kinase 2 (LRRK2) modulates cytoskeletal functions by regulating actin and tubulin dynamics, thereby affecting neurite outgrowth. By interactome analysis we demonstrate that the binding of LRRK2 to tubulins is significantly enhanced by phar...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2012.12.019

    authors： Caesar M,Zach S,Carlson CB,Brockmann K,Gasser T,Gillardon F

    更新日期：2013-06-01 00:00:00

  • Psychosine induces the dephosphorylation of neurofilaments by deregulation of PP1 and PP2A phosphatases.

    abstract：:Patients with Krabbe disease, a genetic demyelinating syndrome caused by deficiency of galactosyl-ceramidase and the resulting accumulation of galactosyl-sphingolipids, develop signs of a dying-back axonopathy compounded by a deficiency of large-caliber axons. Here, we show that axonal caliber in Twitcher mice, an ani...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2012.01.013

    authors： Cantuti-Castelvetri L,Zhu H,Givogri MI,Chidavaenzi RL,Lopez-Rosas A,Bongarzone ER

    更新日期：2012-05-01 00:00:00

  • Involvement of oxidative stress on the impairment of energy metabolism induced by A beta peptides on PC12 cells: protection by antioxidants.

    abstract：:Alzheimer's disease is widely held to be associated with oxidative stress due, in part, to the membrane action of amyloid beta-peptide (A beta) aggregates. In this study, the involvement of oxidative stress on A beta-induced energy metabolism dysfunction was evaluated on PC12 cells. It was shown that A beta peptides (...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1006/nbdi.1999.0241

    authors： Pereira C,Santos MS,Oliveira C

    更新日期：1999-06-01 00:00:00

  • Neuromodulation targets pathological not physiological beta bursts during gait in Parkinson's disease.

    abstract：:Freezing of gait (FOG) is a devastating axial motor symptom in Parkinson's disease (PD) leading to falls, institutionalization, and even death. The response of FOG to dopaminergic medication and deep brain stimulation (DBS) is complex, variable, and yet to be optimized. Fundamental gaps in the knowledge of the underly...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2018.09.004

    authors： Anidi C,O'Day JJ,Anderson RW,Afzal MF,Syrkin-Nikolau J,Velisar A,Bronte-Stewart HM

    更新日期：2018-12-01 00:00:00

  • Cholesterol retention in Alzheimer's brain is responsible for high beta- and gamma-secretase activities and Abeta production.

    abstract：:Alzheimer's disease (AD) is characterized by overproduction of A beta derived from APP cleavage via beta- and gamma-secretase pathway. Recent evidence has linked altered cholesterol metabolism to AD pathogenesis. In this study, we show that AD brain had significant cholesterol retention and high beta- and gamma-secret...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2007.10.005

    authors： Xiong H,Callaghan D,Jones A,Walker DG,Lue LF,Beach TG,Sue LI,Woulfe J,Xu H,Stanimirovic DB,Zhang W

    更新日期：2008-03-01 00:00:00

  • The metabotropic P2Y4 receptor participates in the commitment to differentiation and cell death of human neuroblastoma SH-SY5Y cells.

    abstract：:Extracellular nucleotides exert a variety of biological actions through different subtypes of P2 receptors. Here we characterized in the human neuroblastoma SH-SY5Y cells the simultaneous presence of various P2 receptors, belonging to the P2X ionotropic and P2Y metabotropic families. Western blot analysis detected the...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2004.09.001

    authors： Cavaliere F,Nestola V,Amadio S,D'Ambrosi N,Angelini DF,Sancesario G,Bernardi G,Volonté C

    更新日期：2005-02-01 00:00:00

  • Copper/zinc chelation by clioquinol reduces spinal cord white matter damage and behavioral deficits in a murine MOG-induced multiple sclerosis model.

    abstract：:The present study aimed to evaluate the therapeutic potential of clioquinol (CQ), a metal chelator, on multiple sclerosis pathogenesis. Experimental autoimmune encephalomyelitis was induced by immunization with myelin oligodendrocyte glycoprotein (MOG(35-55)) in female mice. Three weeks after the initial immunization,...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2013.01.012

    authors： Choi BY,Jang BG,Kim JH,Seo JN,Wu G,Sohn M,Chung TN,Suh SW

    更新日期：2013-06-01 00:00:00

  • A mouse model of the fragile X premutation: effects on behavior, dendrite morphology, and regional rates of cerebral protein synthesis.

    abstract：:Carriers of FMR1 premutation alleles have 55-200 CGG repeats in the 5' untranslated region of the gene. These individuals are at risk for fragile X associated primary ovarian insufficiency (females) and, in late life, fragile X associated tremor and ataxia syndrome (males, and to a lesser extent, females). Premutation...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2011.01.008

    authors： Qin M,Entezam A,Usdin K,Huang T,Liu ZH,Hoffman GE,Smith CB

    更新日期：2011-04-01 00:00:00

  • Activation of caspase-1 dependent interleukins in developmental brain trauma.

    abstract：:Focal mechanical cortical trauma triggers diffuse apoptotic neurodegeneration in the developing rat brain which is associated with invasion of brain tissue with inflammatory mediators. We hypothesized that caspase-1 and the two caspase-1-processed cytokines, interleukin (IL)-1beta and IL-18, are involved in trauma-ind...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2006.11.003

    authors： Sifringer M,Stefovska V,Endesfelder S,Stahel PF,Genz K,Dzietko M,Ikonomidou C,Felderhoff-Mueser U

    更新日期：2007-03-01 00:00:00

  • Hyperphosphorylated tau and paired helical filament-like structures in the brains of mice carrying mutant amyloid precursor protein and mutant presenilin-1 transgenes.

    abstract：:Senile plaques composed mainly of beta-amyloid (Abeta) and neurofibrillary tangles principally composed of hyperphosphorylated tau are the major pathological features of Alzheimer's disease (AD). Despite the fact that increased expression of amyloid precursor protein (APP) and presenilin-1 (PS1) transgenes in mice lea...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/s0969-9961(03)00084-6

    authors： Kurt MA,Davies DC,Kidd M,Duff K,Howlett DR

    更新日期：2003-10-01 00:00:00

  • Increased slow oscillatory activity in substantia nigra pars reticulata triggers abnormal involuntary movements in the 6-OHDA-lesioned rat in the presence of excessive extracellular striatal dopamine.

    abstract：:Since electrophysiological correlates of L-dopa-induced dyskinesia (LID) are almost unknown, changes of striatal dopamine (DA) transmission and electrophysiological activity of the substantia nigra pars reticulata (SNr) were recorded before and after acute L-dopa administration in sham-operated and 6-hydroxydopamine (...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2006.01.009

    authors： Meissner W,Ravenscroft P,Reese R,Harnack D,Morgenstern R,Kupsch A,Klitgaard H,Bioulac B,Gross CE,Bezard E,Boraud T

    更新日期：2006-06-01 00:00:00

  • The dynamics of cortico-thalamo-cortical interactions at the transition from pre-ictal to ictal LFPs in absence epilepsy.

    abstract：PURPOSE:Generalized spike and wave discharges (SWD) are generated within the cortico-thalamo-cortical system. However the exact interactions between cortex and different thalamic nuclei needed for the generation and maintenance of SWD are still to be elucidated. This study aims to shed more light on these interactions ...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2012.03.023

    authors： Lüttjohann A,van Luijtelaar G

    更新日期：2012-07-01 00:00:00

  • Does gene deletion of AMPA GluA1 phenocopy features of schizoaffective disorder?

    abstract：:Glutamatergic dysfunction is strongly implicated in schizophrenia and mood disorders. GluA1 knockout (KO) mice display schizophrenia- and depression-related abnormalities. Here, we asked whether GluA1 KO show mania-related abnormalities. KO were tested for behavior in approach/avoid conflict tests, responses to repeat...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2010.08.005

    authors： Fitzgerald PJ,Barkus C,Feyder M,Wiedholz LM,Chen YC,Karlsson RM,Machado-Vieira R,Graybeal C,Sharp T,Zarate C,Harvey-White J,Du J,Sprengel R,Gass P,Bannerman D,Holmes A

    更新日期：2010-12-01 00:00:00

  • Expression of the kynurenine pathway enzyme tryptophan 2,3-dioxygenase is increased in the frontal cortex of individuals with schizophrenia.

    abstract：:Markers of the kynurenine pathway were studied in postmortem frontal cortex obtained from individuals with schizophrenia and controls. Quantitative endpoint RT-PCR was used to measure mRNA transcripts. Of the two enzymes capable of catalyzing the first step in the pathway, tryptophan 2,3-dioxygenase (TDO2) and indolea...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2003.12.015

    authors： Miller CL,Llenos IC,Dulay JR,Barillo MM,Yolken RH,Weis S

    更新日期：2004-04-01 00:00:00

  • Unraveling substantia nigra sequential gene expression in a progressive MPTP-lesioned macaque model of Parkinson's disease.

    abstract：:Taking advantage of a progressive nonhuman primate model mimicking Parkinson's disease (PD) evolution, we monitored transcriptional fluctuations in the substantia nigra using Affymetrix microarrays in control (normal), saline-treated (normal), 6 days-treated (asymptomatic with 20% cell loss), 12 days-treated (asymptom...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2005.02.005

    authors： Bassilana F,Mace N,Li Q,Stutzmann JM,Gross CE,Pradier L,Benavides J,Ménager J,Bezard E

    更新日期：2005-10-01 00:00:00

  • Anti-NMDA receptor autoantibodies and associated neurobehavioral pathology in mice are dependent on age of first exposure to Toxoplasma gondii.

    abstract：BACKGROUND:Toxoplasma gondii is a pathogen implicated in psychiatric disorders. As elevated antibodies to T. gondii are also present in non-symptomatic individuals, we hypothesized that the age during first exposure to the pathogen may affect symptom manifestation. We tested this hypothesis by evaluating neurobehaviora...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2016.03.005

    authors： Kannan G,Crawford JA,Yang C,Gressitt KL,Ihenatu C,Krasnova IN,Cadet JL,Yolken RH,Severance EG,Pletnikov MV

    更新日期：2016-07-01 00:00:00

  • Selective pattern of motor system damage in gamma-synuclein transgenic mice mirrors the respective pathology in amyotrophic lateral sclerosis.

    abstract：:Amyotrophic lateral sclerosis (ALS) is characterised by substantial loss of both upper and lower motor neuron function, with sensory and cognitive systems less affected. Though heritable forms of the disease have been described, the vast majority of cases are sporadic with poorly defined underlying pathogenic mechanis...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2012.06.016

    authors： Peters OM,Millership S,Shelkovnikova TA,Soto I,Keeling L,Hann A,Marsh-Armstrong N,Buchman VL,Ninkina N

    更新日期：2012-10-01 00:00:00

  • Heterogeneous expression of hydrocephalic phenotype in the hyh mice carrying a point mutation in alpha-SNAP.

    abstract：:The hyh mouse carrying a point mutation in the gene encoding for soluble N-ethylmaleimide-sensitive factor (NSF) attachment protein alpha (alpha-SNAP) develops inherited hydrocephalus. The investigation was designed to study: (i) the clinical evolution of hyh mice; (ii) factors other than the alpha-SNAP mutation that ...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2006.02.009

    authors： Bátiz LF,Páez P,Jiménez AJ,Rodríguez S,Wagner C,Pérez-Fígares JM,Rodríguez EM

    更新日期：2006-07-01 00:00:00

  • Metabolomics tools for identifying biomarkers for neuropsychiatric diseases.

    abstract：:The repertoire of biochemicals (or small molecules) present in cells, tissue, and body fluids is known as the metabolome. Today, clinicians utilize only a very small part of the information contained in the metabolome, as revealed by the quantification of a limited set of analytes to gain information on human health. ...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章,评审

    doi：10.1016/j.nbd.2009.02.019

    authors： Quinones MP,Kaddurah-Daouk R

    更新日期：2009-08-01 00:00:00

  • The role of REST in transcriptional and epigenetic dysregulation in Huntington's disease.

    abstract：:Huntington's disease (HD) is a devastating disorder that affects approximately 1 in 10,000 people and is accompanied by neuronal dysfunction and neurodegeneration. HD manifests as a progressive chorea, a decline in mental abilities accompanied by behavioural, emotional and psychiatric problems followed by, dementia, a...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章,评审

    doi：10.1016/j.nbd.2010.02.003

    authors： Buckley NJ,Johnson R,Zuccato C,Bithell A,Cattaneo E

    更新日期：2010-07-01 00:00:00

  • Divergent α-synuclein solubility and aggregation properties in G2019S LRRK2 Parkinson's disease brains with Lewy Body pathology compared to idiopathic cases.

    abstract：:Mutations in LRRK2 are the most common genetic cause of Parkinson's disease (PD). The most prevalent LRRK2 mutation is the G2019S coding change, located in the kinase domain of this complex multi-domain protein. The majority of G2019S autopsy cases feature typical Lewy Body pathology with a clinical phenotype almost i...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2013.05.017

    authors： Mamais A,Raja M,Manzoni C,Dihanich S,Lees A,Moore D,Lewis PA,Bandopadhyay R

    更新日期：2013-10-01 00:00:00

  • Ca2+/calmodulin-dependent modulation of cell cycle elements pRb and p27kip1 involved in the enhanced proliferation of lymphoblasts from patients with Alzheimer dementia.

    abstract：:Failure of cell cycle regulation in neurons might be critically involved in the process of neurodegeneration in Alzheimer's disease (AD). We present here evidence to support the hypothesis that cell cycle alterations occur in cells other than neurons in AD sufferers. Lymphocytes from AD patients immortalized with Epst...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/s0969-9961(03)00040-8

    authors： de las Cuevas N,Urcelay E,Hermida OG,Saíz-Diaz RA,Bermejo F,Ayuso MS,Martín-Requero A

    更新日期：2003-08-01 00:00:00

  • Extended period of asymptomatic prion disease after low dose inoculation: assessment of detection methods and implications for infection control.

    abstract：:We used quantal dose-titration of a mouse-adapted human transmissible spongiform encephalopathy strain (M470) to compare different analytical methods for their ability to detect asymptomatic brain prion infection after low dose inoculation. At a time point approximately 2.5-fold beyond the mean incubation period of hi...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2005.03.014

    authors： Collins SJ,Lewis V,Brazier MW,Hill AF,Lawson VA,Klug GM,Masters CL

    更新日期：2005-11-01 00:00:00

  • Sex dimorphism in seizure-controlling networks.

    abstract：:Males and females show a different predisposition to certain types of seizures in clinical studies. Animal studies have provided growing evidence for sexual dimorphism of certain brain regions, including those that control seizures. Seizures are modulated by networks involving subcortical structures, including thalamu...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章,评审

    doi：10.1016/j.nbd.2014.05.010

    authors： Giorgi FS,Galanopoulou AS,Moshé SL

    更新日期：2014-12-01 00:00:00

  • Acute exposure to GSM 900-MHz electromagnetic fields induces glial reactivity and biochemical modifications in the rat brain.

    abstract：:The worldwide proliferation of mobile phones raises the question of the effects of 900-MHz electromagnetic fields (EMF) on the brain. Using a head-only exposure device in the rat, we showed that a 15-min exposure to 900-MHz pulsed microwaves at a high brain-averaged power of 6 W/kg induced a strong glial reaction in t...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2004.07.004

    authors： Mausset-Bonnefont AL,Hirbec H,Bonnefont X,Privat A,Vignon J,de Sèze R

    更新日期：2004-12-01 00:00:00

  • Chronic minocycline treatment improves hippocampal neuronal structure, NMDA receptor function, and memory processing in Fmr1 knockout mice.

    abstract：:Fragile X Syndrome (FXS) is the most common inherited cause of intellectual disability, and is the leading known single-gene cause of autism spectrum disorder. FXS patients display varied behavioural deficits that include mild to severe cognitive impairments in addition to mood disorders. Currently there is no cure fo...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2018.01.014

    authors： Yau SY,Bettio L,Vetrici M,Truesdell A,Chiu C,Chiu J,Truesdell E,Christie BR

    更新日期：2018-05-01 00:00:00

  • In vivo imaging reveals impaired connectivity across cortical and subcortical networks in a mouse model of DYT1 dystonia.

    abstract：:Developing in vivo functional and structural neuroimaging assays in Dyt1 ΔGAG heterozygous knock-in (Dyt1 KI) mice provide insight into the pathophysiology underlying DYT1 dystonia. In the current study, we examined in vivo functional connectivity of large-scale cortical and subcortical networks in Dyt1 KI mice and wi...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2016.07.005

    authors： DeSimone JC,Febo M,Shukla P,Ofori E,Colon-Perez LM,Li Y,Vaillancourt DE

    更新日期：2016-11-01 00:00:00