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

abstract：:Aberrant brain iron deposition is observed in both common and rare neurodegenerative disorders, including those categorized as Neurodegeneration with Brain Iron Accumulation (NBIA), which are characterized by focal iron accumulation in the basal ganglia. Two NBIA genes are directly involved in iron metabolism, but whe...

journal_title：Neurobiology of disease

authors： Bettencourt C,Forabosco P,Wiethoff S,Heidari M,Johnstone DM,Botía JA,Collingwood JF,Hardy J,UK Brain Expression Consortium (UKBEC).,Milward EA,Ryten M,Houlden H

更新日期：2016-03-01 00:00:00

abstract：:Dystonias are movement disorders whose pathomechanism is largely unknown. Dystonic dt(sz) hamsters represent a model of primary dystonias, where alterations of striatal interneuron density and sodium channel function in projection neurones were described. Here, using cortico-striatal slices, we explore whether also th...

journal_title：Neurobiology of disease

authors： Köhling R,Koch UR,Hamann M,Richter A

更新日期：2004-06-01 00:00:00

abstract：:Pathological oxygen deprivation inhibits prolyl hydroxylase (PHD) activity and stimulates a protective cellular oxygen-sensing response in part through the stabilization and activation of the Hypoxia Inducible Factor (HIF) 1α transcription factor. The present investigation tested the therapeutic potential of enhanced ...

journal_title：Neurobiology of disease

authors： Ogle ME,Gu X,Espinera AR,Wei L

更新日期：2012-02-01 00:00:00

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

authors： Elliott JL

更新日期：1999-10-01 00:00:00

abstract：BACKGROUND:Alzheimer's disease (AD) is the most common neurodegenerative disorder. Depositions of amyloid β peptide (Aβ) and tau protein are among the major pathological hallmarks of AD. Aβ and tau burden follows predictable spatial patterns during the progression of AD. Nevertheless, it remains obscure why certain bra...

journal_title：Neurobiology of disease

authors： Mendonça CF,Kuras M,Nogueira FCS,Plá I,Hortobágyi T,Csiba L,Palkovits M,Renner É,Döme P,Marko-Varga G,Domont GB,Rezeli M

更新日期：2019-10-01 00:00:00

abstract：:The endoplasmic reticulum-stress response is induced in several neurodegenerative diseases and in cellular models of Huntington's disease. However, here we report that the processing of ATF6α to its active nuclear form, one of the three branches of endoplasmic reticulum-stress activation, is impaired in both animal mo...

journal_title：Neurobiology of disease

authors： Fernandez-Fernandez MR,Ferrer I,Lucas JJ

更新日期：2011-01-01 00:00:00

abstract：:We identify an essential role for the RGD (Arg-Gly-Asp tripeptide) moiety in vivo during adult peripheral neuron regenerative growth. Beyond a peripheral nerve transection there were rises in the fibronectin extracellular matrix, and striking rises in the mRNA and protein expression of integrin subunits sensitive to R...

journal_title：Neurobiology of disease

authors： Liu WQ,Martinez JA,Durand J,Wildering W,Zochodne DW

更新日期：2009-04-01 00:00:00

abstract：:Infection of immunocompetent adult rats with Borna disease virus (BDV) causes severe encephalitis and neural dysfunction. The expression of COX-2 and CGRP, genes previously shown to be implicated in CNS disease and peripheral inflammation, was dramatically upregulated in the cortical neurons of acutely BDV-infected ra...

journal_title：Neurobiology of disease

authors： Röhrenbeck AM,Bette M,Hooper DC,Nyberg F,Eiden LE,Dietzschold B,Weihe E

更新日期：1999-02-01 00:00:00

abstract：:Age-inappropriate expression of juvenile NMDA receptors (NMDARs) containing GluN3A subunits has been linked to synapse loss and death of spiny projection neurons of the striatum (SPNs) in Huntington's disease (HD). Here we show that suppressing GluN3A expression prevents a multivariate synaptic transmission phenotype ...

journal_title：Neurobiology of disease

authors： Mahfooz K,Marco S,Martínez-Turrillas R,Raja MK,Pérez-Otaño I,Wesseling JF

更新日期：2016-09-01 00:00:00

abstract：:Glutaric aciduria type I (GA I) is an autosomal recessive inherited metabolic disorder caused by deficiency of glutaryl-CoA dehydrogenase (GCD) resulting in the accumulation of 3-hydroxyglutaric acid (3OHG), glutaric acid and glutaconic acid in body fluids. GA I is characterized by a specific age- and brain region-dep...

journal_title：Neurobiology of disease

authors： Freudenberg F,Lukacs Z,Ullrich K

更新日期：2004-08-01 00:00:00

abstract：:Neuropeptide Y (NPY) and NPY receptors are widely expressed in the mammalian central nervous system. Studies in both humans and rodent models revealed that brain NPY levels are altered in some neurodegenerative disorders, such as Alzheimer's disease, Parkinson's disease, Huntington's disease and Machado-Joseph disease...

journal_title：Neurobiology of disease

authors： Duarte-Neves J,Pereira de Almeida L,Cavadas C

更新日期：2016-11-01 00:00:00

abstract：:In Alzheimer's disease (AD), the cognitive reserve theory predicts that at any level of assessed clinical severity, the underlying brain pathology is more advanced in patients with more cognitive reserve. Recent evidences suggest that cerebrospinal fluid (CSF) biomarkers may reflect the brain pathology in AD. We inves...

journal_title：Neurobiology of disease

authors： Dumurgier J,Paquet C,Benisty S,Kiffel C,Lidy C,Mouton-Liger F,Chabriat H,Laplanche JL,Hugon J

更新日期：2010-11-01 00:00:00

abstract：:We recently reported evidence for disturbed synaptic versus extrasynaptic NMDAR transmission in the early pathogenesis of Huntington's disease (HD), a late-onset neurodegenerative disorder caused by CAG repeat expansion in the gene encoding huntingtin. Studies in glutamatergic cells indicate that synaptic NMDAR transm...

journal_title：Neurobiology of disease

authors： Milnerwood AJ,Kaufman AM,Sepers MD,Gladding CM,Zhang L,Wang L,Fan J,Coquinco A,Qiao JY,Lee H,Wang YT,Cynader M,Raymond LA

更新日期：2012-10-01 00:00:00

abstract：:Loss of function mutations in the SCN1A gene, which encodes the voltage-gated sodium channel Nav1.1, have been described in the majority of Dravet syndrome patients presenting with epileptic seizures, hyperactivity, autistic traits, and cognitive decline. We previously reported predominant Nav1.1 expression in parvalb...

journal_title：Neurobiology of disease

authors： Tatsukawa T,Ogiwara I,Mazaki E,Shimohata A,Yamakawa K

更新日期：2018-04-01 00:00:00

abstract：:Friedreich ataxia (FRDA) is an autosomal recessive degenerative disease caused either by an intronic GAA triplet repeat expansion that suppresses the expression of the frataxin gene on chromosome 9q13, or, rarely, by point mutations in the frataxin gene. We investigated the expression of the mouse frataxin homologue d...

journal_title：Neurobiology of disease

authors： Jiralerspong S,Liu Y,Montermini L,Stifani S,Pandolfo M

更新日期：1997-01-01 00:00:00

abstract：:Twelve- to sixteen-month-old (G2019S) LRRK2 transgenic mice prepared by us displayed progressive neuronal death of substantia nigra pars compacta (SNpc) dopaminergic cells. In the present study, we hypothesized that prior to a late-phase death of SNpc dopaminergic neurons, (G2019S) LRRK2 also causes an early-phase neu...

journal_title：Neurobiology of disease

authors： Chou JS,Chen CY,Chen YL,Weng YH,Yeh TH,Lu CS,Chang YM,Wang HL

更新日期：2014-08-01 00:00:00

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

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

abstract：:Cellular mechanisms play a role in conversion of the normal prion protein PrP(C) to the disease-associated protein PrP(Sc). The cells provide not only PrP(C), but also still largely undefined factors required for efficient prion replication. Previously, we have observed that interference with ERK and p38-JNK MAP kinas...

journal_title：Neurobiology of disease

authors： Allard EK,Grujic M,Fisone G,Kristensson K

更新日期：2013-10-01 00:00:00

abstract：:The amyloid precursor protein (APP) metabolism is central to pathogenesis of Alzheimer's disease (AD). Parenchymal amyloid deposits, a neuropathological hallmark of AD, are composed of amyloid-beta peptides (Abeta). Abeta derives from the amyloid precursor protein (APP) by sequential cleavages by beta- and gamma-secre...

journal_title：Neurobiology of disease

authors： Vingtdeux V,Hamdane M,Bégard S,Loyens A,Delacourte A,Beauvillain JC,Buée L,Marambaud P,Sergeant N

更新日期：2007-03-01 00:00:00

abstract：:The disruption of the blood-spinal cord barrier (BSCB) by matrix metalloprotease (MMP) activation is a detrimental event that leads to blood cell infiltration, inflammation, and apoptosis, thereby contributing to permanent neurological disability after spinal cord injury (SCI). However, the molecular mechanisms underl...

journal_title：Neurobiology of disease

authors： Lee JY,Na WH,Choi HY,Lee KH,Ju BG,Yune TY

更新日期：2016-11-01 00:00:00

abstract：:Huntington's disease (HD) is a hereditary neurodegenerative disorder caused by an expansion of a CAG repeat in the huntingtin (htt) gene, which results in an aberrant form of the protein (mhtt). This leads to motor and cognitive deficits associated with corticostriatal and hippocampal alterations. The levels of STriat...

journal_title：Neurobiology of disease

authors： García-Forn M,Martínez-Torres S,García-Díaz Barriga G,Alberch J,Milà M,Azkona G,Pérez-Navarro E

更新日期：2018-12-01 00:00:00

abstract：:In a transgenic mouse model of the neurodegenerative disorder Huntington's disease (HD), age-dependent neurologic defects are accompanied by progressive alterations in glucose tolerance that culminate in the development of diabetes mellitus and insulin deficiency. Pancreatic islets from HD transgenic mice express redu...

journal_title：Neurobiology of disease

authors： Andreassen OA,Dedeoglu A,Stanojevic V,Hughes DB,Browne SE,Leech CA,Ferrante RJ,Habener JF,Beal MF,Thomas MK

更新日期：2002-12-01 00:00:00

abstract：:Frontotemporal dementia (FTD) is typified by behavioral and cognitive changes manifested as altered social comportment and impaired memory performance. To investigate the neurodegenerative consequences of progranulin gene (GRN) mutations, which cause an inherited form of FTD, we used previously generated progranulin k...

journal_title：Neurobiology of disease

authors： Ghoshal N,Dearborn JT,Wozniak DF,Cairns NJ

更新日期：2012-01-01 00:00:00

abstract：:TRIM family proteins are involved in a broad range of biological processes, and their alteration results in many diverse pathological conditions found in genetic diseases, viral infections, and cancers. However, the spatial and temporal expression and function of TRIM9, one of TRIM family proteins, remain obscure. Our...

journal_title：Neurobiology of disease

authors： Tanji K,Kamitani T,Mori F,Kakita A,Takahashi H,Wakabayashi K

更新日期：2010-05-01 00:00:00

abstract：:The identification of novel molecular targets crucially involved in motor neuron degeneration/survival is a necessary step for the development of hopefully more effective therapeutic strategies for amyotrophic lateral sclerosis (ALS) patients. In this view, S1R, an endoplasmic reticulum (ER)-resident receptor with cha...

journal_title：Neurobiology of disease

authors： Peviani M,Salvaneschi E,Bontempi L,Petese A,Manzo A,Rossi D,Salmona M,Collina S,Bigini P,Curti D

更新日期：2014-02-01 00:00:00

abstract：:Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of leukodystrophy caused by mutations in either MLC1 or GLIALCAM genes. Previous work indicated that chloride currents mediated by the volume-regulated anion channel (VRAC) and ClC-2 channels were affected in astrocytes deficient in either...

journal_title：Neurobiology of disease

authors： Elorza-Vidal X,Sirisi S,Gaitán-Peñas H,Pérez-Rius C,Alonso-Gardón M,Armand-Ugón M,Lanciotti A,Brignone MS,Prat E,Nunes V,Ambrosini E,Gasull X,Estévez R

更新日期：2018-11-01 00:00:00

abstract：:The inwardly-rectifying potassium channel Kir4.1 is a major player in the astrocyte-mediated regulation of [K(+)](o) in the brain, which is essential for normal neuronal activity and synaptic functioning. KCNJ10, encoding Kir4.1, has been recently linked to seizure susceptibility in humans and mice, and is a possible ...

journal_title：Neurobiology of disease

authors： Sicca F,Imbrici P,D'Adamo MC,Moro F,Bonatti F,Brovedani P,Grottesi A,Guerrini R,Masi G,Santorelli FM,Pessia M

更新日期：2011-07-01 00:00:00

abstract：:Although peroxisome biogenesis and β-oxidation disorders are well known for their neurodevelopmental defects, patients with these disorders are increasingly diagnosed with neurodegenerative pathologies. In order to investigate the cellular mechanisms of neurodegeneration in these patients, we developed a mouse model l...

journal_title：Neurobiology of disease

authors： Verheijden S,Bottelbergs A,Krysko O,Krysko DV,Beckers L,De Munter S,Van Veldhoven PP,Wyns S,Kulik W,Nave KA,Ramer MS,Carmeliet P,Kassmann CM,Baes M

更新日期：2013-10-01 00:00:00

abstract：:Schizophrenia is a complex neuropsychiatric disorder that involves disturbances in neural circuitry and synaptic function. The exquisite network architecture and capacity for discreet post-synaptic remodeling of neurons requires coordination by an elaborate intracellular network of molecular signal transduction system...

journal_title：Neurobiology of disease

authors： Beveridge NJ,Cairns MJ

更新日期：2012-05-01 00:00:00

abstract：:In amyotrophic lateral sclerosis (ALS), the exogenous temporal triggers that result in initial motor neuron death are not understood. Overactivation and consequent accelerated loss of vulnerable motor neurons is one theory of disease initiation. The vulnerability of motor neurons in response to chronic peripheral nerv...

journal_title：Neurobiology of disease

authors： Lepore AC,Tolmie C,O'Donnell J,Wright MC,Dejea C,Rauck B,Hoke A,Ignagni AR,Onders RP,Maragakis NJ

更新日期：2010-09-01 00:00:00