Gene expression in the epileptic (EL) mouse hippocampus.

abstract：:Hereditary sensory neuropathy type 1 (HSN-1) is a peripheral neuropathy most frequently caused by mutations in the SPTLC1 or SPTLC2 genes, which code for two subunits of the enzyme serine palmitoyltransferase (SPT). SPT catalyzes the first step of de novo sphingolipid synthesis. Mutations in SPT result in a change in ...

journal_title：Neurobiology of disease

authors： Wilson ER,Kugathasan U,Abramov AY,Clark AJ,Bennett DLH,Reilly MM,Greensmith L,Kalmar B

更新日期：2018-09-01 00:00:00

abstract：:Ubiquitination, a fundamental post-translational modification of intracellular proteins, is enzymatically reversed by deubiquitinase enzymes (deubiquitinases). >90 deubiquitinases have been identified. One of these enzymes, YOD1, possesses deubiquitinase activity and is similar to ovarian tumor domain-containing prote...

journal_title：Neurobiology of disease

authors： Tanji K,Mori F,Miki Y,Utsumi J,Sasaki H,Kakita A,Takahashi H,Wakabayashi K

更新日期：2018-04-01 00:00:00

abstract：:Bradykinesia is the most important feature contributing to motor difficulties in Parkinson's disease (PD). However, the pathophysiology underlying bradykinesia is not fully understood. One important aspect is that PD patients have difficulty in performing learned motor skills automatically, but this problem has been g...

journal_title：Neurobiology of disease

authors： Wu T,Hallett M,Chan P

更新日期：2015-10-01 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：:Charcot-Marie-Tooth disease type 2B (CMT2B) is an inherited axonal peripheral neuropathy. It is characterised by prominent sensory loss, often complicated by severe ulcero-mutilations of toes or feet, and variable motor involvement. Missense mutations in RAB7A, the gene encoding the small GTPase Rab7, cause CMT2B and ...

journal_title：Neurobiology of disease

authors： Janssens K,Goethals S,Atkinson D,Ermanoska B,Fransen E,Jordanova A,Auer-Grumbach M,Asselbergh B,Timmerman V

更新日期：2014-05-01 00:00:00

abstract：:The autophagy-lysosomal degradation pathway plays a role in the onset and progression of neurodegenerative diseases. Clinical and genetic studies indicate that mutations of beta-glucocerebrosidase represent genetic risk factors for synucleinopathies, including Parkinson's Disease (PD) and Dementia with Lewy Bodies (DL...

journal_title：Neurobiology of disease

authors： Parnetti L,Balducci C,Pierguidi L,De Carlo C,Peducci M,D'Amore C,Padiglioni C,Mastrocola S,Persichetti E,Paciotti S,Bellomo G,Tambasco N,Rossi A,Beccari T,Calabresi P

更新日期：2009-06-01 00:00:00

abstract：:Heterozygous in frame duplications of the PHOX2B gene, leading to polyalanine (polyAla) expansions ranging from +5 to +13 residues of a 20-alanine stretch, have been identified in the vast majority of patients affected with Congenital Central Hypoventilation Syndrome (CCHS), a rare neurocristopathy characterized by ab...

journal_title：Neurobiology of disease

authors： Di Zanni E,Bachetti T,Parodi S,Bocca P,Prigione I,Di Lascio S,Fornasari D,Ravazzolo R,Ceccherini I

更新日期：2012-01-01 00:00:00

abstract：:Exercise has beneficial effects on brain function, including the promotion of plasticity and the enhancement of learning and memory performance. Previously we found that exercise increases the expression of certain neurotrophic factors including brain derived neurotrophic factor in the rat hippocampus. To further expl...

journal_title：Neurobiology of disease

authors： Tong L,Shen H,Perreau VM,Balazs R,Cotman CW

更新日期：2001-12-01 00:00:00

abstract：:Amyotrophic lateral sclerosis (ALS) is a fatal disease of unknown etiology. Mutations in copper/zinc superoxide dismutase (SOD1) are the most commonly associated genetic abnormality. Given that SOD1 is ubiquitously expressed, the exclusive vulnerability of motor neurons is one of the most puzzling issues in ALS resear...

journal_title：Neurobiology of disease

authors： Ge WW,Leystra-Lantz C,Sanelli TR,McLean J,Wen W,Strong W,Strong MJ

更新日期：2006-08-01 00:00:00

abstract：:Recent large-scale genetic studies have allowed for the first glimpse of the effects of common genetic variability in dementia with Lewy bodies (DLB), identifying risk variants with appreciable effect sizes. However, it is currently well established that a substantial portion of the genetic heritable component of comp...

journal_title：Neurobiology of disease

authors： Guerreiro R,Escott-Price V,Hernandez DG,Kun-Rodrigues C,Ross OA,Orme T,Neto JL,Carmona S,Dehghani N,Eicher JD,Shepherd C,Parkkinen L,Darwent L,Heckman MG,Scholz SW,Troncoso JC,Pletnikova O,Dawson T,Rosenthal L,Ansor

更新日期：2019-07-01 00:00:00

abstract：:Low brain expression of the spermidine/spermine N-1 acetyltransferase (SAT1) gene, the rate-limiting enzyme involved in catabolism of polyamines that mediate the polyamine stress response (PSR), has been reported in depressed suicides. However, it is unknown whether this effect is associated with depression or with su...

journal_title：Neurobiology of disease

authors： Pantazatos SP,Andrews SJ,Dunning-Broadbent J,Pang J,Huang YY,Arango V,Nagy PL,John Mann J

更新日期：2015-07-01 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：:The molecular mechanisms of major mental illnesses, such as schizophrenia and bipolar disorder, are unclear. To address this fundamental question, many groups have studied molecular expression profiles in postmortem brains and other tissues from patients compared with those from normal controls. Development of unbiase...

journal_title：Neurobiology of disease

authors： Lin CY,Sawa A,Jaaro-Peled H

更新日期：2012-01-01 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：:Shed photoreceptor outer segments (POS) are phagocytosed by RPE cells in a circadian manner. The homozygous deletion of the c-mer gene abolishes the ingestion phase of this phagocytosis in the Royal College of Surgeons (RCS) rat strain, which in turn leads to the death of photoreceptor cells. We identified RPE transcr...

journal_title：Neurobiology of disease

authors： Dufour EM,Nandrot E,Marchant D,Van Den Berghe L,Gadin S,Issilame M,Dufier JL,Marsac C,Carper D,Menasche M,Abitbol M

更新日期：2003-11-01 00:00:00

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

authors： Quinones MP,Kaddurah-Daouk R

更新日期：2009-08-01 00:00:00

abstract：:Huntington disease (HD) is an adult onset, neurodegenerative disorder that results from CAG expansion in the HD gene. Recent work has demonstrated testicular degeneration in mouse models of HD and alterations in the hypothalamic-pituitary-gonadal (HPG) axis in HD patients. Here, we show that HD patients have specific ...

journal_title：Neurobiology of disease

authors： Van Raamsdonk JM,Murphy Z,Selva DM,Hamidizadeh R,Pearson J,Petersén A,Björkqvist M,Muir C,Mackenzie IR,Hammond GL,Vogl AW,Hayden MR,Leavitt BR

更新日期：2007-06-01 00:00:00

abstract：:Long-term consequences of status epilepticus (SE) occur in a significant proportion of those who survive the acute episode. We developed an in vivo model of acute focal neocortical SE (FSE) to study long-term effects on local cortical structure and function and potential strategies to mitigate adverse consequences of ...

journal_title：Neurobiology of disease

authors： Perez-Ramirez MB,Gu F,Prince DA

更新日期：2020-08-01 00:00:00

abstract：:In a comprehensive proteomics study aiming at the identification of proteins associated with amyloid-beta (Abeta)-mediated toxicity in cultured cortical neurons, we have identified Thimet oligopeptidase (THOP1). Functional modulation of THOP1 levels in primary cortical neurons demonstrated that its overexpression was ...

journal_title：Neurobiology of disease

authors： Pollio G,Hoozemans JJ,Andersen CA,Roncarati R,Rosi MC,van Haastert ES,Seredenina T,Diamanti D,Gotta S,Fiorentini A,Magnoni L,Raggiaschi R,Rozemuller AJ,Casamenti F,Caricasole A,Terstappen GC

更新日期：2008-07-01 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：: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：:Amyloid-beta (Abeta) accumulation in senile plaques is a hallmark of Alzheimer's disease (AD). Immunotherapy is a leading approach for amyloid clearance, despite the early termination of the Elan clinical trial with active immunization due to a few cases of meningoencephalitis. The mechanisms of immunotherapy-mediated...

journal_title：Neurobiology of disease

authors： Garcia-Alloza M,Ferrara BJ,Dodwell SA,Hickey GA,Hyman BT,Bacskai BJ

更新日期：2007-12-01 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：:Status epilepticus (SE) induces neuroinflammation and epileptogenesis, but the mechanisms are not yet fully delineated. The Fyn, a non-receptor Src family tyrosine kinase (SFK), and its immediate downstream target, PKCδ are emerging as potential mediators of neuroinflammation. In order to first determine the role of F...

journal_title：Neurobiology of disease

authors： Sharma S,Carlson S,Puttachary S,Sarkar S,Showman L,Putra M,Kanthasamy AG,Thippeswamy T

更新日期：2018-02-01 00:00:00

abstract：:Several neurodegenerative diseases like Huntington's, a polyglutamine (PolyQ) disease, are initiated by protein aggregation in neurons. Furthermore, these diseases are also associated with a multitude of responses in non-neuronal cells in the brain, in particular glial cells, like astrocytes. These non-neuronal respon...

journal_title：Neurobiology of disease

authors： Bason M,Meister-Broekema M,Alberts N,Dijkers P,Bergink S,Sibon OCM,Kampinga HH

更新日期：2019-04-01 00:00:00

abstract：:Down syndrome (DS) is the most common genetic disorder associated with mental retardation. It has been repeatedly shown that Ts65Dn mice, the major animal model for DS, have severe cognitive and synaptic plasticity dysfunctions caused by excessive inhibition in their temporal lobe structures. Here we employed a multid...

journal_title：Neurobiology of disease

authors： Begenisic T,Baroncelli L,Sansevero G,Milanese M,Bonifacino T,Bonanno G,Cioni G,Maffei L,Sale A

更新日期：2014-03-01 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：:Huntington's disease (HD) is a progressive neurodegenerative genetic disorder which leads to motor, cognitive and psychiatric disturbances. The primary neuropathological hallmark is atrophy of the striatum. Cannabinoid CB1 receptors (CB1Rs) are particularly enriched in the striatum and previous works indicate their ea...

journal_title：Neurobiology of disease

authors： Mievis S,Blum D,Ledent C

更新日期：2011-06-01 00:00:00

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

authors： Pereira C,Santos MS,Oliveira C

更新日期：1999-06-01 00:00:00

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

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

更新日期：2004-06-01 00:00:00