Identification of novel genes and altered signaling pathways in the retinal pigment epithelium during the Royal College of Surgeons rat retinal degeneration.

abstract：:Butyrylcholinesterase (BuChE) is increased in the cerebral cortex of Alzheimer's disease (AD) patients, particularly those carrying epsilon4 allele of the apolipoprotein E gene (ApoE) and certain BuChE variants that predict increased AD risk and poor response to anticholinesterase therapy. We measured BuChE activity a...

journal_title：Neurobiology of disease

authors： Darreh-Shori T,Brimijoin S,Kadir A,Almkvist O,Nordberg A

更新日期：2006-11-01 00:00:00

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

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

更新日期：2008-12-01 00:00:00

abstract：OBJECTIVE:To investigate structural connectivity and the relationship between axonal microstructure and clinical, cognitive, and motor functions in premanifest (pre-HD) and symptomatic (symp-HD) Huntington's disease. METHOD:Diffusion tensor imaging (DTI) data were acquired from 35 pre-HD, 36 symp-HD, and 35 controls. ...

journal_title：Neurobiology of disease

authors： Poudel GR,Stout JC,Domínguez D JF,Salmon L,Churchyard A,Chua P,Georgiou-Karistianis N,Egan GF

更新日期：2014-05-01 00:00:00

abstract：:DYT1 dystonia is an inherited disease linked to mutation in the TOR1A gene encoding for the protein torsinA. Although the mechanism by which this genetic alteration leads to dystonia is unclear, multiple lines of clinical evidence suggest a link between dystonia and a reduced dopamine D2 receptor (D2R) availability. B...

journal_title：Neurobiology of disease

authors： Napolitano F,Pasqualetti M,Usiello A,Santini E,Pacini G,Sciamanna G,Errico F,Tassone A,Di Dato V,Martella G,Cuomo D,Fisone G,Bernardi G,Mandolesi G,Mercuri NB,Standaert DG,Pisani A

更新日期：2010-06-01 00:00:00

abstract：:Over 1250 mutations in SCN1A, the Nav1.1 voltage-gated sodium channel gene, are associated with seizure disorders including GEFS+. To evaluate how a specific mutation, independent of genetic background, causes seizure activity we generated two pairs of isogenic human iPSC lines by CRISPR/Cas9 gene editing. One pair is...

journal_title：Neurobiology of disease

authors： Xie Y,Ng NN,Safrina OS,Ramos CM,Ess KC,Schwartz PH,Smith MA,O'Dowd DK

更新日期：2020-02-01 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：:Oxidative stress and protein aggregation are biochemical hallmarks of Parkinson's disease (PD), a frequent sporadic late-onset degenerative disorder particularly of dopaminergic neurons in the substantia nigra, resulting in impaired spontaneous movement. PARK6 is a rare autosomal-recessively inherited disorder, mimick...

journal_title：Neurobiology of disease

authors： Hoepken HH,Gispert S,Morales B,Wingerter O,Del Turco D,Mülsch A,Nussbaum RL,Müller K,Dröse S,Brandt U,Deller T,Wirth B,Kudin AP,Kunz WS,Auburger G

更新日期：2007-02-01 00:00:00

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

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

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：:Exposure to stress during pregnancy influences the trajectory of brain development resulting in permanent alterations that may contribute to increased susceptibility to subsequent cognitive or neuropsychiatric disorders. In this manuscript, we examined the effects of prenatal stress on the expression of basic fibrobla...

journal_title：Neurobiology of disease

authors： Fumagalli F,Bedogni F,Slotkin TA,Racagni G,Riva MA

更新日期：2005-12-01 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：:Our previous studies demonstrated that the psychostimulant methamphetamine (MA) and the human immunodeficiency virus-1 (HIV-1) protein Tat interacted to cause enhanced dopaminergic neurotoxicity. The present study examined whether tumor necrosis factor-alpha (TNF-alpha) mediates the interaction between Tat and MA. In ...

journal_title：Neurobiology of disease

authors： Theodore S,Cass WA,Nath A,Steiner J,Young K,Maragos WF

更新日期：2006-09-01 00:00:00

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

authors： Giorgi FS,Galanopoulou AS,Moshé SL

更新日期：2014-12-01 00:00:00

abstract：:Endocannabinoids function as neurotransmitters and neuromodulators in the central nervous system via specific receptors and apparently have a neuroprotective role. We assumed that the endocannabinoid system could be involved in the pathogenesis of hepatic encephalopathy (HE), a neuropsychiatric syndrome due to liver d...

journal_title：Neurobiology of disease

authors： Avraham Y,Israeli E,Gabbay E,Okun A,Zolotarev O,Silberman I,Ganzburg V,Dagon Y,Magen I,Vorobia L,Pappo O,Mechoulam R,Ilan Y,Berry EM

更新日期：2006-01-01 00:00:00

abstract：:The effects of an adenovirus-mediated Bcl-X(L) expression, driven by a neuron-specific human synapsin-1 promoter, on the degree of injury, were examined after transient focal ischemia in mice. Therefore, injections of vehicle, of an adenoviral E1-deleted control vector (Ad-dE1), or a Bcl-X(L) vector (Ad-Syn-Bcl-X(L)) ...

journal_title：Neurobiology of disease

authors： Kilic E,Hermann DM,Kügler S,Kilic U,Holzmüller H,Schmeer C,Bähr M

更新日期：2002-11-01 00:00:00

abstract：:Glutamate-induced delayed calcium dysregulation (DCD) is a causal factor leading to neuronal death. The mechanism of DCD is not clear but Ca2+ influx via N-methyl-d-aspartate receptors (NMDAR) and/or the reverse plasmalemmal Na+/Ca2+ exchanger (NCXrev) could be involved in DCD. However, the extent to which NMDAR and N...

journal_title：Neurobiology of disease

authors： Brittain MK,Brustovetsky T,Sheets PL,Brittain JM,Khanna R,Cummins TR,Brustovetsky N

更新日期：2012-04-01 00:00:00

abstract：:Attention deficit hyperactivity disorder (ADHD) is characterized by hyperactivity, inattention, and impulsivity. The coloboma mouse model of ADHD exhibits profound hyperactivity. To determine whether coloboma mice exhibit other signs of ADHD, we assessed latent inhibition as a test of attention, and impulsivity in a d...

journal_title：Neurobiology of disease

authors： Bruno KJ,Freet CS,Twining RC,Egami K,Grigson PS,Hess EJ

更新日期：2007-01-01 00:00:00

abstract：:Parkinson's disease is a neurodegenerative disorder characterized by the progressive loss of dopaminergic neurons in the substantia nigra and a marked reduction of dopamine (DA) levels in the striatum. Binding to its specific receptors, DA switches on a complex program of intracellular signaling that regulates gene ex...

journal_title：Neurobiology of disease

authors： Cuadrado-Tejedor M,Sesma MT,Giménez-Amaya JM,Ortiz L

更新日期：2005-12-01 00:00:00

abstract：:Matrix metalloproteinases (MMPs) are involved in tissue repair, cell death and morphogenesis. We investigated the role of the gelatinases MMP-2 and MMP-9 in the pathogenesis of neuronal death induced by prolonged seizures in the developing brain. Seven-day-old rats, MMP-9 knockout mice and transgenic rats overexpressi...

journal_title：Neurobiology of disease

authors： Hoehna Y,Uckermann O,Luksch H,Stefovska V,Marzahn J,Theil M,Gorkiewicz T,Gawlak M,Wilczynski GM,Kaczmarek L,Ikonomidou C

更新日期：2012-12-01 00:00:00

abstract：:Fragile X syndrome (FXS) patients do not make the fragile X mental retardation protein (FMRP). The absence of FMRP causes dysregulated translation, abnormal synaptic plasticity and the most common form of inherited intellectual disability. But FMRP loss has minimal effects on memory itself, making it difficult to unde...

journal_title：Neurobiology of disease

authors： Radwan B,Dvorak D,Fenton AA

更新日期：2016-04-01 00:00:00

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

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

abstract：:The telomeric copy of the survival motor neuron gene (SMN1) is deleted or mutated in all spinal muscular atrophy (SMA) patients and these patients present mainly a loss in spinal motoneurons. Although studies performed in HeLa cells suggest that SMN may be involved in the biogenesis and possibly in recycling of splice...

journal_title：Neurobiology of disease

authors： Cisterni C,Kallenbach S,Jordier F,Bagnis C,Pettmann B

更新日期：2001-04-01 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：:The protracted and age-dependent degeneration of dopamine (DA)-producing neurons of the Substantia nigra pars compacta (SNc) and ventral tegmental area (VTA) in the mammalian midbrain is a hallmark of human Parkinson's Disease (PD) and of certain genetic mouse models of PD, such as mice heterozygous for the homeodomai...

journal_title：Neurobiology of disease

authors： Zhang J,Götz S,Vogt Weisenhorn DM,Simeone A,Wurst W,Prakash N

更新日期：2015-10-01 00:00:00

abstract：:To identify potential multiple sclerosis (MS)-specific biomarkers, we used a proteomic approach to screen cerebrospinal fluid (CSF) from 40 MS patients and 13 controls. We identified seven proteins (Beta-2-microglobulin, Bri2-23, Fetuin-A, Kallikrein-6, Plasminogen, Ribonuclease-1, and Transferrin) that had significan...

journal_title：Neurobiology of disease

authors： Harris VK,Diamanduros A,Good P,Zakin E,Chalivendra V,Sadiq SA

更新日期：2010-10-01 00:00:00

abstract：:The critical anabolic and trophic role of signaling by insulin-like growth factors (IGF) I and II via the type-I IGF receptor (IGF-IR) is reviewed throughout the life of skeletal myocytes. The proliferative effects of IGF-IR stimulation, both during embryogenesis and during satellite cell proliferation following dener...

journal_title：Neurobiology of disease

authors： Singleton JR,Feldman EL

更新日期：2001-08-01 00:00:00

abstract：:In this review, we describe insights into beta-amyloid (Abeta) production using aged dogs as a model of human brain aging. The advantage of using dogs is that they naturally accumulate Abeta neuropathology with age. In parallel, dogs also develop age-associated learning and memory impairments. Thus, dogs can complemen...

journal_title：Neurobiology of disease

authors： Head E,Torp R

更新日期：2002-02-01 00:00:00

abstract：:Transgenic mice expressing mutant human amyloid precursor protein (APP) develop an age-dependent amyloid pathology and memory deficits, but no overt neuronal loss. Here, in mice overexpressing wild-type human APP (hAPP(wt)) we found an early memory impairment, particularly in the water maze and to a lesser extent in t...

journal_title：Neurobiology of disease

authors： Simón AM,Schiapparelli L,Salazar-Colocho P,Cuadrado-Tejedor M,Escribano L,López de Maturana R,Del Río J,Pérez-Mediavilla A,Frechilla D

更新日期：2009-03-01 00:00:00

abstract：:Oxidative stress is involved in the pathogenesis of various neurodegenerative disorders, conventional antioxidant strategies have yet been of limited success. We have employed transgenic Caenorhabditis elegans expressing DsRed2 in dopaminergic neurons and CFP pan-neuronally, to characterize in larval and adult animals...

journal_title：Neurobiology of disease

authors： Mocko JB,Kern A,Moosmann B,Behl C,Hajieva P

更新日期：2010-10-01 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