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

abstract：:The epsilon4 allele of the apolipoprotein E gene (APOE) is associated with sporadic and familial late-onset Alzheimer's disease (AD). Oxidative stress is believed to play an important role in neuronal dysfunction and cell death in AD. We now provide evidence that in the hippocampus of AD, the level of thiobarbituric a...

journal_title：Neurobiology of disease

authors： Ramassamy C,Averill D,Beffert U,Theroux L,Lussier-Cacan S,Cohn JS,Christen Y,Schoofs A,Davignon J,Poirier J

更新日期：2000-02-01 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：:The mutilated-foot rat (mf rat) is an autosomal recessive mutant with characteristic digit deformities in adult animals, and this phenotype mimics many aspects of human sensory neuropathy. The genetics of mf rats was recently elucidated. To understand whether the genotype is responsible for cutaneous denervation befor...

journal_title：Neurobiology of disease

authors： Hsu SH,Lee MJ,Hsieh SC,Scaravilli F,Hsieh ST

更新日期：2004-07-01 00:00:00

abstract：:Mutations in the gene encoding the RNA-binding protein TDP-43 cause amyotrophic lateral sclerosis (ALS), clinically and pathologically indistinguishable from the majority of 'sporadic' cases of ALS, establishing altered TDP-43 function and distribution as a primary mechanism of neurodegeneration. Transgenic mouse mode...

journal_title：Neurobiology of disease

authors： Gordon D,Dafinca R,Scaber J,Alegre-Abarrategui J,Farrimond L,Scott C,Biggs D,Kent L,Oliver PL,Davies B,Ansorge O,Wade-Martins R,Talbot K

更新日期：2019-01-01 00:00:00

abstract：:One of the prominent pharmacological features of drugs acting at the brain cannabinoid receptor (CB1) is the induction of alterations in motor behavior. Catalepsy, immobility, ataxia, or the impairment of complex behavioral acts are observed after acute administration of either natural and synthetic cannabinoid recept...

journal_title：Neurobiology of disease

authors： Rodríguez de Fonseca F,Del Arco I,Martín-Calderón JL,Gorriti MA,Navarro M

更新日期：1998-12-01 00:00:00

abstract：:Major depressive disorder (MDD) is one of the most prevalent major psychiatric disorders with a lifetime prevalence of 17%. Recent evidence suggests MDD is not only a brain dysfunction, but a systemic disease affecting the whole body. Central and peripheral inflammatory changes seem to be a centerpiece of MDD patholog...

journal_title：Neurobiology of disease

authors： Money KM,Olah Z,Korade Z,Garbett KA,Shelton RC,Mirnics K

更新日期：2016-05-01 00:00:00

abstract：:The brain of Alzheimer's disease patients shows abundant dystrophic neurites in close proximity to fibrillar beta-amyloid (A beta) plaques, and activated glial cells. We evaluated the influence of pro-inflammatory molecules (LPS + IFN-gamma) on A beta(1-42) neurotoxicity. 2 microM A beta(1-42) induced apoptosis of hip...

journal_title：Neurobiology of disease

authors： Ramírez G,Toro R,Döbeli H,von Bernhardi R

更新日期：2005-06-01 00:00:00

abstract：:Drugs that modify noradrenergic transmission such as atomoxetine and clonidine are increasingly prescribed for the treatment of attention deficit hyperactivity disorder (ADHD). However, the therapeutic targets of these compounds are unknown. Norepinephrine is also implicated in the hyperactivity exhibited by coloboma ...

journal_title：Neurobiology of disease

authors： Bruno KJ,Hess EJ

更新日期：2006-09-01 00:00:00

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

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

更新日期：2010-01-01 00:00:00

abstract：:The TATA-box binding protein associated factor 1 (TAF1) is part of the TFIID complex that plays a key role during the initiation of transcription. Variants of TAF1 are associated with neurodevelopmental disorders. Previously, we found that CRISPR/Cas9 based editing of the TAF1 gene disrupts the morphology of the cereb...

journal_title：Neurobiology of disease

authors： Dhanalakshmi C,Janakiraman U,Moutal A,Fukunaga K,Khanna R,Nelson MA

更新日期：2021-02-01 00:00:00

abstract：:Cytokine-dependent mechanisms in the CNS have been implicated in the pathogenesis of depression. Interleukin-6 is upregulated in depressed patients and dowregulated by antidepressants. It is, however, unknown whether IL-6 is involved in the pathogenesis of depression. We subjected IL-6-deficient mice (IL-6(-/-)) to de...

journal_title：Neurobiology of disease

authors： Chourbaji S,Urani A,Inta I,Sanchis-Segura C,Brandwein C,Zink M,Schwaninger M,Gass P

更新日期：2006-09-01 00:00:00

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

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

abstract：:It is widely accepted that the loss of function of different cellular proteins following their aggregation into highly stable aggregates or the gain of pathologic function of the resulting macromolecular assemblies or both processes are tightly associated to distinct debilitating neurodegenerative diseases such as Alz...

journal_title：Neurobiology of disease

authors： Melki R

更新日期：2018-01-01 00:00:00

abstract：:Spinocerebellar Ataxia Type 1 (SCA1) is an autosomal dominant late onset neurodegenerative disease caused by an expanded polyglutamine tract in ataxin-1. Here, we compared the protective effects of overexpressing ataxin-1-like using recombinant AAVs, or reducing expression of mutant ataxin-1 using virally delivered RN...

journal_title：Neurobiology of disease

authors： Keiser MS,Geoghegan JC,Boudreau RL,Lennox KA,Davidson BL

更新日期：2013-08-01 00:00:00

abstract：:All tauopathies result in various forms of cognitive decline and neuronal loss. Although in some diseases, tau mutations appear to cause neurodegeneration, the toxic "form" of tau remains elusive. Tau is the major protein found within neurofibrillary tangles (NFTs) and therefore it seemed rational to assume that aggre...

journal_title：Neurobiology of disease

authors： Ward SM,Himmelstein DS,Ren Y,Fu Y,Yu XW,Roberts K,Binder LI,Sahara N

更新日期：2014-07-01 00:00:00

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

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

更新日期：2016-05-01 00:00:00

abstract：:The amyloid precursor protein (APP) is a type I transmembrane protein translocated to neuronal terminals, whose function is still unknown. The C-terminus of APP mediates its interaction with cellular adaptor and signaling proteins, some of which signal to the stress-activated protein kinase (SAPK) pathway. Here we sho...

journal_title：Neurobiology of disease

authors： Galvan V,Banwait S,Spilman P,Gorostiza OF,Peel A,Ataie M,Crippen D,Huang W,Sidhu G,Ichijo H,Bredesen DE

更新日期：2007-10-01 00:00:00

abstract：:Mutations in vacuolar protein sorting 35 (VPS35) have been linked to familial Parkinson's disease (PD). VPS35, a component of the retromer, mediates the retrograde transport of cargo from the endosome to the trans-Golgi network. Here we showed that retromer depletion increases the lysosomal turnover of the mannose 6-p...

journal_title：Neurobiology of disease

authors： Miura E,Hasegawa T,Konno M,Suzuki M,Sugeno N,Fujikake N,Geisler S,Tabuchi M,Oshima R,Kikuchi A,Baba T,Wada K,Nagai Y,Takeda A,Aoki M

更新日期：2014-11-01 00:00:00

abstract：:Whether seizures in the developing brain cause long-term changes in the mature brain has been debated. We tested the hypothesis that a model of early-life seizures, induced by systemic injection of a GABA(B) receptor antagonist CGP56999A in immature rats, decreased GABA(B) receptor-mediated inhibitory postsynaptic cur...

journal_title：Neurobiology of disease

authors： Qu L,Boyce R,Leung LS

更新日期：2010-03-01 00:00:00

abstract：:In multiple sclerosis (MS), post-mortem studies of human brain tissue as well as data from animal models have shown that apoptosis of neurons occurs to a significant extent during this disease. As neurodegeneration in MS correlates with permanent neurological deficits in patients, understanding the mechanisms would be...

journal_title：Neurobiology of disease

authors： Diem R,Taheri N,Dietz GP,Kuhnert A,Maier K,Sättler MB,Gadjanski I,Merkler D,Bähr M

更新日期：2005-11-01 00:00:00

abstract：:4-Aminopyridine (4AP, 50 μM) induces interictal- and ictal-like discharges in brain slices including parahippocampal areas such as the entorhinal cortex (EC) but the relation between these two types of epileptiform activity remains undifined. Here, by employing field potential recordings in rat EC slices during 4AP ap...

journal_title：Neurobiology of disease

authors： Avoli M,Panuccio G,Herrington R,D'Antuono M,de Guzman P,Lévesque M

更新日期：2013-04-01 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：: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：:Huntington's disease (HD) and Dentatorubral and pallidoluysian atrophy (DRPLA) are autosomal dominant, neurodegenerative disorders caused by the expansion of polyglutamine tracts in their respective proteins, huntingtin and atrophin-1. We have previously generated mouse models of these disorders, using transgenes expr...

journal_title：Neurobiology of disease

authors： Schilling G,Jinnah HA,Gonzales V,Coonfield ML,Kim Y,Wood JD,Price DL,Li XJ,Jenkins N,Copeland N,Moran T,Ross CA,Borchelt DR

更新日期：2001-06-01 00:00:00

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

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

abstract：:Neurodegeneration is a common neuropathological feature of prion diseases. Although evidence of apoptosis was found in natural and experimental prion diseases, the precise mechanisms by which neurons die are poorly understood. The pro-apoptotic BAX protein, a key factor of the mitochondrial pathway, plays a central ro...

journal_title：Neurobiology of disease

authors： Coulpier M,Messiaen S,Hamel R,Fernández de Marco M,Lilin T,Eloit M

更新日期：2006-09-01 00:00:00

abstract：:Mitochondrial dysfunction plays an important role in the pathogenesis of neurodegenerative diseases, numerous other disease states and senescence. The ability to monitor reactive oxygen species (ROS) within tissues and over time in animal model systems is of significant research value. Recently, redox-sensitive fluore...

journal_title：Neurobiology of disease

authors： Liu Z,Celotto AM,Romero G,Wipf P,Palladino MJ

更新日期：2012-01-01 00:00:00

abstract：:It is widely accepted that the angiotensin AT2-receptor (AT2R) has neuroprotective features. In the present study we tested pharmacological AT2R-stimulation as a therapeutic approach in a model of spinal cord compression injury (SCI) in mice using the novel non-peptide AT2R-agonist, Compound 21 (C21). Complementary ex...

journal_title：Neurobiology of disease

authors： Namsolleck P,Boato F,Schwengel K,Paulis L,Matho KS,Geurts N,Thöne-Reineke C,Lucht K,Seidel K,Hallberg A,Dahlöf B,Unger T,Hendrix S,Steckelings UM

更新日期：2013-03-01 00:00:00

abstract：:Proteolytic cleavage of the amyloid precursor protein (APP) by the two proteases α- and β-secretases controls the generation of the amyloid β peptide (Aβ), a key player in Alzheimer's disease pathogenesis. The α-secretase ADAM10 and the β-secretase BACE1 have opposite effects on Aβ generation and are assumed to compet...

journal_title：Neurobiology of disease

authors： Colombo A,Wang H,Kuhn PH,Page R,Kremmer E,Dempsey PJ,Crawford HC,Lichtenthaler SF

更新日期：2013-01-01 00:00:00

abstract：:Mutations in APP (amyloid precursor protein), PSEN1 (presenilin 1) or PSEN2 (presenilin 2) are the main cause of early-onset familial forms of Alzheimer's disease (autosomal dominant AD or ADAD). These genes affect γ-secretase-dependent generation of Amyloid β (Aβ) peptides, the main constituent of amyloid plaques and...

journal_title：Neurobiology of disease

authors： Pimenova AA,Goate AM

更新日期：2020-05-01 00:00:00