当前位置： SCI文献检索 > NEUROBIOLOGY OF DISEASE期刊下所有文献 > Silencing of the Charcot-Marie-Tooth disease-associated gene GDAP1 induces abnormal mitochondrial distribution and affects Ca2+ homeostasis by reducing store-operated Ca2+ entry.

Silencing of the Charcot-Marie-Tooth disease-associated gene GDAP1 induces abnormal mitochondrial distribution and affects Ca2+ homeostasis by reducing store-operated Ca2+ entry.

Abstract：

:GDAP1 is an outer mitochondrial membrane protein that acts as a regulator of mitochondrial dynamics. Mutations of the GDAP1 gene cause Charcot-Marie-Tooth (CMT) neuropathy. We show that GDAP1 interacts with the vesicle-organelle trafficking proteins RAB6B and caytaxin, which suggests that GDAP1 may participate in the mitochondrial movement within the cell. GDAP1 silencing in the SH-SY5Y cell line induces abnormal distribution of the mitochondrial network, reduces the contact between mitochondria and endoplasmic reticulum (ER) and alters the mobilization of mitochondria towards plasma membrane upon depletion of ER-Ca(2+) stores. GDAP1 silencing does not affect mitochondrial Ca(2+) uptake, ER-Ca(2+), or Ca(2+) flow from ER to mitochondria, but reduces Ca(2+) inflow through store-operated Ca(2+) entry (SOCE) following mobilization of ER-Ca(2+) and SOCE-driven Ca(2+) entry in mitochondria. Our studies suggest that the pathophysiology of GDAP1-related CMT neuropathies may be associated with abnormal distribution and movement of mitochondria throughout cytoskeleton towards the ER and subplasmalemmal microdomains, resulting in a decrease in SOCE activity and impaired SOCE-driven Ca(2+) uptake in mitochondria.

journal_name

Neurobiol Dis

journal_title

Neurobiology of disease

authors

Pla-Martín D,Rueda CB,Estela A,Sánchez-Piris M,González-Sánchez P,Traba J,de la Fuente S,Scorrano L,Renau-Piqueras J,Alvarez J,Satrústegui J,Palau F

doi

10.1016/j.nbd.2013.03.010

subject

Has Abstract

pub_date

2013-07-01 00:00:00

pages

140-51

eissn

0969-9961

issn

1095-953X

pii

S0969-9961(13)00098-3

journal_volume

55

pub_type

杂志文章

相关文献

NEUROBIOLOGY OF DISEASE文献大全
  • Uridine release during aminopyridine-induced epilepsy.

    abstract：:Uridine, like adenosine, is released under sustained depolarization and it can inhibit hippocampal neuronal activity, suggesting that uridine may be released during seizures and can be involved in epileptic mechanisms. In an in vivo microdialysis study, we measured the extracellular changes of nucleoside and amino aci...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2004.02.011

    authors： Slézia A,Kékesi AK,Szikra T,Papp AM,Nagy K,Szente M,Maglóczky Z,Freund TF,Juhász G

    更新日期：2004-08-01 00:00:00

  • Alzheimer pathology disorganizes cortico-cortical circuitry: direct evidence from a transgenic animal model.

    abstract：:It has been proposed that Alzheimer disease (AD) is associated with a "disconnection syndrome" due to the gradual loss of morphological and functional integrity of cortico-cortical pathways. This hypothesis derives from indirect neuropathological observations, but definitive evidence that AD primarily targets cortico-...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2004.01.008

    authors： Delatour B,Blanchard V,Pradier L,Duyckaerts C

    更新日期：2004-06-01 00:00:00

  • Biology of A beta amyloid in Alzheimer's disease.

    abstract：:The genetic associations with the pathological features of AD are diverse: A rapidly growing number of mutations in presenilin 1 and 2 on chromosomes 14 and 1, respectively, are found in many early-onset FAD patients (Lendon et al., 1997). In addition, beta PP mutations are found in a small percentage of early-onset F...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章,评审

    doi：10.1006/nbdi.1997.0147

    authors： Wisniewski T,Ghiso J,Frangione B

    更新日期：1997-01-01 00:00:00

  • Stem cell factor and granulocyte colony-stimulating factor promote brain repair and improve cognitive function through VEGF-A in a mouse model of CADASIL.

    abstract：:Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy (CADASIL) is a cerebral small vascular disease caused by NOTCH3 gene mutation in vascular smooth muscle cells (VSMCs), leading to ischemic stroke and vascular dementia. To date, the pathogenesis of CADASIL remains poorly understo...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2019.104561

    authors： Ping S,Qiu X,Kyle M,Hughes K,Longo J,Zhao LR

    更新日期：2019-12-01 00:00:00

  • Alpha-synuclein deregulates the expression of COL4A2 and impairs ER-Golgi function.

    abstract：:Alpha-synuclein (aSyn) is the major protein component of Lewy bodies and Lewy neurites, the typical pathological hallmarks in Parkinson's disease (PD) and Dementia with Lewy bodies. aSyn is capable of inducing transcriptional deregulation, but the precise effect of specific aSyn mutants associated with familial forms ...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2018.08.001

    authors： Paiva I,Jain G,Lázaro DF,Jerčić KG,Hentrich T,Kerimoglu C,Pinho R,Szegő ÈM,Burkhardt S,Capece V,Halder R,Islam R,Xylaki M,Caldi Gomes LA,Roser AE,Lingor P,Schulze-Hentrich JM,Borovečki F,Fischer A,Outeiro TF

    更新日期：2018-11-01 00:00:00

  • No differences of butyrylcholinesterase protein activity and allele frequency in Lewy body diseases.

    abstract：:Butyrylcholinesterase (BChE) genotypes and protein (BuChE) activity, especially in combination with Apolipoprotein E4 (ApoE4), have been investigated as risk factors for developing Alzheimer disease (AD) and may be associated with the rate of progression of cognitive decline. Despite similar pathologic (e.g. amyloid d...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2009.05.014

    authors： Maetzler W,Keller S,Michelis J,Koehler N,Stransky E,Becker C,Schulte C,Melms A,Gasser T,Berg D

    更新日期：2009-08-01 00:00:00

  • Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2.

    abstract：:Premature stop codons in CACNA1A, which encodes the alpha(1A) subunit of neuronal P/Q-type (Ca(V)2.1) Ca(2+) channels, cause episodic ataxia type 2 (EA2). CACNA1A undergoes extensive alternative splicing, which contributes to the pharmacological and kinetic heterogeneity of Ca(V)2.1-mediated Ca(2+) currents. We identi...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2008.06.002

    authors： Graves TD,Imbrici P,Kors EE,Terwindt GM,Eunson LH,Frants RR,Haan J,Ferrari MD,Goadsby PJ,Hanna MG,van den Maagdenberg AM,Kullmann DM

    更新日期：2008-10-01 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

  • Fibrillation and molecular characteristics are coherent with clinical and pathological features of 4-repeat tauopathy caused by MAPT variant G273R.

    abstract：:Microtubule Associated Protein Tau (MAPT) forms proteopathic aggregates in several diseases. The G273R tau mutation, located in the first repeat region, was found by exome sequencing in a patient who presented with dementia and parkinsonism. We herein return to pathological examination which demonstrated tau immunorea...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2020.105079

    authors： Sandberg A,Ling H,Gearing M,Dombroski B,Cantwell L,R'Bibo L,Levey A,Schellenberg GD,Hardy J,Wood N,Fernius J,Nyström S,Svensson S,Thor S,Hammarström P,Revesz T,Mok KY

    更新日期：2020-12-01 00:00:00

  • Progressive neuroanatomical changes caused by Grin1 loss-of-function mutation.

    abstract：:NMDA receptor dysfunction is central to the encephalopathies caused by missense mutations in the NMDA receptor subunit genes. Missense variants of GRIN1, GRIN2A, and GRIN2B cause similar syndromes with varying severity of intellectual impairment, autism, epilepsy, and motor dysfunction. To gain insight into possible b...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2019.104527

    authors： Intson K,van Eede MC,Islam R,Milenkovic M,Yan Y,Salahpour A,Henkelman RM,Ramsey AJ

    更新日期：2019-12-01 00:00:00

  • Lack of CCR5 modifies glial phenotypes and population of the nigral dopaminergic neurons, but not MPTP-induced dopaminergic neurodegeneration.

    abstract：:Constitutive expression of C-C chemokine receptor (CCR) 5 has been detected in astrocytes, microglia and neurons, but its physiological roles in the central nervous system are obscure. The bidirectional interactions between neuron and glial cells through CCR5 and its ligands were thought to be crucial for maintaining ...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2012.08.001

    authors： Choi DY,Lee MK,Hong JT

    更新日期：2013-01-01 00:00:00

  • Deconstructing the neural and ionic involvement of seizure-like events in the striatal network.

    abstract：:Seizures occur in the basal ganglia (BG) of epileptic patients and in animal models of epilepsy, but there is relatively little known about how these events are gated and/or propagated through this structure. Here, we present and characterize a model of in vitro seizure-like events (SLEs) in the striatum by applying c...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2012.11.019

    authors： Yu W,Calos M,Pilitsis J,Shin DS

    更新日期：2013-04-01 00:00:00

  • Huntingtin with an expanded polyglutamine repeat affects the Jab1-p27(Kip1) pathway.

    abstract：:Expansion of polyglutamine repeats is the cause of at least nine inherited human neurodegenerative disorders, including Huntington's disease (HD). It is widely accepted that deregulation of the transcriptional coactivator CBP by expanded huntingtin (htt) plays an important role in HD molecular pathogenesis. In this st...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2012.03.008

    authors： Cong SY,Pepers BA,Zhou TT,Kerkdijk H,Roos RA,van Ommen GJ,Dorsman JC

    更新日期：2012-06-01 00:00:00

  • Identification and functional dissection of localization signals within ataxin-3.

    abstract：:Spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD) belongs to a group of autosomal dominant neurodegenerative diseases, which are caused by the expansion of a polyglutamine repeat in the affected protein, in this case ataxin-3. Ataxin-3 is mainly localized in the cytoplasm; however, one hallmark of S...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2009.07.020

    authors： Antony PM,Mäntele S,Mollenkopf P,Boy J,Kehlenbach RH,Riess O,Schmidt T

    更新日期：2009-11-01 00:00:00

  • Transgenic mice over-expressing GABA(B)R1a receptors acquire an atypical absence epilepsy-like phenotype.

    abstract：:In this study, we tested whether over-expressing the GABA(B) receptor R1a subtype in transgenic mouse forebrain neurons would be sufficient to induce spontaneous absence seizures. As hypothesized, these transgenic mice develop spontaneous, recurrent, bilaterally synchronous, 3-6 Hz slow spike and wave discharges betwe...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2007.01.013

    authors： Wu Y,Chan KF,Eubanks JH,Guin Ting Wong C,Cortez MA,Shen L,Che Liu C,Perez Velazquez J,Tian Wang Y,Jia Z,Carter Snead O 3rd

    更新日期：2007-05-01 00:00:00

  • Characterization of a commonly used mouse model of SMA reveals increased seizure susceptibility and heightened fear response in FVB/N mice.

    abstract：:The SMN2 transgenic mouse, Tg(SMN2)89Ahmb, has emerged as the most widely used in spinal muscular atrophy (SMA) research. Here we clone the genomic integration site of the transgene and demonstrate it to be in intron 4 of the metabotropic glutamate receptor 7 (mGluR7) gene. We found that the integration of this transg...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2011.03.002

    authors： Gogliotti RG,Lutz C,Jorgensen M,Huebsch K,Koh S,Didonato CJ

    更新日期：2011-07-01 00:00:00

  • Functional role of mGluR1 and mGluR4 in pilocarpine-induced temporal lobe epilepsy.

    abstract：:Altered expression and distribution of neurotransmitter receptors, including metabotropic glutamate receptors (mGluRs), constitute key aspects in epileptogenesis, impaired hippocampal excitability and neuronal degeneration. mGluR1 mediates predominantly excitatory effects, whereas mGluR4 acts as inhibitory presynaptic...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2007.03.003

    authors： Pitsch J,Schoch S,Gueler N,Flor PJ,van der Putten H,Becker AJ

    更新日期：2007-06-01 00:00:00

  • What are activated and reactive glia and what is their role in neurodegeneration?

    abstract：:In injury and disease, microglia and astrocytes - two major non-neuronal cell types in the central nervous system (CNS) - undergo morphological, transcriptional, and functional changes, which can underlie pathogenesis and dysfunction of the CNS. Microglia, the brain's tissue resident parenchymal macrophages, are descr...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章,评审

    doi：10.1016/j.nbd.2020.105172

    authors： Bennett ML,Viaene AN

    更新日期：2021-01-01 00:00:00

  • Degeneration of the nigrostriatal pathway and induction of motor deficit by tetrahydrobiopterin: an in vivo model relevant to Parkinson's disease.

    abstract：:We determined whether the preferential toxicity of tetrahydrobiopterin (BH4) on dopamine-producing cells, which we have previously observed in vitro, might also occur in vivo and generate characteristics associated with Parkinson's disease. Intrastriatal BH4 injection caused a loss of tyrosine hydroxylase immunoreacti...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/s0969-9961(03)00037-8

    authors： Kim SW,Jang YJ,Chang JW,Hwang O

    更新日期：2003-07-01 00:00:00

  • Experimental models of amyotrophic lateral sclerosis.

    abstract：:Amyotrophic lateral sclerosis (ALS) is a chronic neurodegenerative disease characterized by the progressive loss of motor neurons, leading to profound weakness and eventual death of affected individuals. For the vast majority of patients with ALS, the etiology of the disorder is unknown, and although multiple clinical...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章,评审

    doi：10.1006/nbdi.1999.0266

    authors： Elliott JL

    更新日期：1999-10-01 00:00:00

  • Molecular classification of amyotrophic lateral sclerosis by unsupervised clustering of gene expression in motor cortex.

    abstract：:Amyotrophic lateral sclerosis (ALS) is a rapidly progressive and ultimately fatal neurodegenerative disease, caused by the loss of motor neurons in the brain and spinal cord. Although 10% of ALS cases are familial (FALS), the majority are sporadic (SALS) and probably associated to a multifactorial etiology. Currently ...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2014.12.002

    authors： Aronica E,Baas F,Iyer A,ten Asbroek AL,Morello G,Cavallaro S

    更新日期：2015-02-01 00:00:00

  • Ethanol-induced death of postnatal hippocampal neurons.

    abstract：:Fetal alcohol exposure causes severe neuropsychiatric problems, but mechanisms of the ethanol-associated changes in central nervous system development are unclear. In vivo, ethanol's interaction with N-methyl-D-aspartate (NMDA) and gamma-aminobutyric acid type A (GABA(A)) receptors may cause increased apoptosis in the...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1006/nbdi.2002.0523

    authors： Moulder KL,Fu T,Melbostad H,Cormier RJ,Isenberg KE,Zorumski CF,Mennerick S

    更新日期：2002-08-01 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

  • A human single-chain Fv intrabody preferentially targets amino-terminal Huntingtin's fragments in striatal models of Huntington's disease.

    abstract：:Amino-terminal fragments of huntingtin (htt) appear to result from proteolytic processing of the full-length protein in Huntington's disease (HD), and fragments containing pathological expansions of polyglutamine elicit toxicity in model systems. Such fragments are sequestered into insoluble aggregates, which may init...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2004.11.003

    authors： Miller TW,Zhou C,Gines S,MacDonald ME,Mazarakis ND,Bates GP,Huston JS,Messer A

    更新日期：2005-06-01 00:00:00

  • Dual response of BDNF to sublethal concentrations of beta-amyloid peptides in cultured cortical neurons.

    abstract：:Beta-amyloid (Abeta) deposition is one important pathological hallmark in Alzheimer's disease (AD). However, low levels of Abeta may modify critical endogenous protection systems before neurodegeneration occurs. We examined the time-course effect of sublethal concentrations of Abeta on total BDNF (panBDNF), BDNF trans...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2009.10.004

    authors： Aliaga E,Silhol M,Bonneau N,Maurice T,Arancibia S,Tapia-Arancibia L

    更新日期：2010-01-01 00:00:00

  • Active immunization trial in Abeta42-injected P301L tau transgenic mice.

    abstract：:Amyloid beta-peptide (Abeta) containing plaques and neurofibrillary tangles (NFT) are the two major histopathological hallmarks of Alzheimer's disease (AD). According to the amyloid cascade hypothesis, deposition of Abeta is an initial and essential step in the pathogenesis of AD, and formation of NFT has been propose...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2005.10.002

    authors： Kulic L,Kurosinski P,Chen F,Tracy J,Mohajeri MH,Li H,Nitsch RM,Götz J

    更新日期：2006-04-01 00:00:00

  • Dynamic changes in pro- and anti-inflammatory cytokines in microglia after PPAR-γ agonist neuroprotective treatment in the MPTPp mouse model of progressive Parkinson's disease.

    abstract：:Neuroinflammatory changes play a pivotal role in the progression of Parkinson's disease (PD) pathogenesis. Recent findings have suggested that activated microglia may polarize similarly to peripheral macrophages in the central nervous system (CNS), assuming a pro-inflammatory M1 phenotype or the alternative anti-infla...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2014.08.011

    authors： Pisanu A,Lecca D,Mulas G,Wardas J,Simbula G,Spiga S,Carta AR

    更新日期：2014-11-01 00:00:00

  • Activation of glycogen synthase kinase-3 beta mediates β-amyloid induced neuritic damage in Alzheimer's disease.

    abstract：:β-Amyloid (Aβ) plaques in Alzheimer (AD) brains are surrounded by severe dendritic and axonal changes, including local spine loss, axonal swellings and distorted neurite trajectories. Whether and how plaques induce these neuropil abnormalities remains unknown. We tested the hypothesis that oligomeric assemblies of Aβ,...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2011.09.002

    authors： DaRocha-Souto B,Coma M,Pérez-Nievas BG,Scotton TC,Siao M,Sánchez-Ferrer P,Hashimoto T,Fan Z,Hudry E,Barroeta I,Serenó L,Rodríguez M,Sánchez MB,Hyman BT,Gómez-Isla T

    更新日期：2012-01-01 00:00:00

  • Identification of an acute functional cross-talk between amyloid-β and glucocorticoid receptors at hippocampal excitatory synapses.

    abstract：:Amyloid-β is a peptide released by synapses in physiological conditions and its pathological accumulation in brain structures necessary for memory processing represents a key toxic hallmark underlying Alzheimer's disease. The oligomeric form of Amyloid-β (Aβο) is now believed to represent the main Amyloid-β species af...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2018.07.001

    authors： Kootar S,Frandemiche ML,Dhib G,Mouska X,Lorivel T,Poupon-Silvestre G,Hunt H,Tronche F,Bethus I,Barik J,Marie H

    更新日期：2018-10-01 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