HIV-Tat-mediated Bcl-XL delivery protects retinal ganglion cells during experimental autoimmune optic neuritis.

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：:Background While significant advances have been made in uncovering the aetiology of Alzheimer's disease and related dementias at the genetic level, molecular events at the epigenetic level remain largely undefined. Emerging evidence indicates that small non-coding RNAs (sncRNAs) and their associated RNA modifications ...

journal_title：Neurobiology of disease

authors： Zhang X,Trebak F,Souza LAC,Shi J,Zhou T,Kehoe PG,Chen Q,Feng Earley Y

更新日期：2020-11-01 00:00:00

abstract：:We have approached the role of cellular stress in neurodegenerative diseases caused by polyglutamine expansion (polyQ) in the context of Spinocerebellar ataxia type 7 (SCA7) that includes retinal degeneration. Using the R7E mouse, in which polyQ-ataxin-7 is specifically over-expressed in rod photoreceptors, we previou...

journal_title：Neurobiology of disease

authors： Merienne K,Friedman J,Akimoto M,Abou-Sleymane G,Weber C,Swaroop A,Trottier Y

更新日期：2007-03-01 00:00:00

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

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

abstract：:CLN5 disease, late infantile variant phenotype neuronal ceroid lipofuscinosis, is a severe neurodegenerative disease caused by mutations in the CLN5 gene, which encodes a lysosomal protein of unknown function. Cln5-deficiency in mice leads to loss of thalamocortical neurons, and glial activation, but the underlying me...

journal_title：Neurobiology of disease

authors： Schmiedt ML,Blom T,Blom T,Kopra O,Wong A,von Schantz-Fant C,Ikonen E,Kuronen M,Jauhiainen M,Cooper JD,Jalanko A

更新日期：2012-04-01 00:00:00

abstract：:Approximately 10% of amyotrophic lateral sclerosis (ALS) cases are familial (FALS), and approximately 25% of FALS cases are caused by mutations in superoxide dismutase-1 (SOD1). Mutant (MT) SOD1 kills motor neurons because of the mutant protein's toxicity; however, the basis for toxicity is unknown. We electroporated ...

journal_title：Neurobiology of disease

authors： Ghadge GD,Wang L,Sharma K,Monti AL,Bindokas V,Stevens FJ,Roos RP

更新日期：2006-01-01 00:00:00

abstract：:Tamoxifen (TAM) is a selective estrogen receptor modulator, widely used in the treatment and prevention of estrogen-dependent breast cancer. Although with great clinical results, women on TAM therapy still report several side effects, such as sexual dysfunction, which impairs quality of life. The anatomo-functional su...

journal_title：Neurobiology of disease

authors： Sá SI,Teixeira N,Fonseca BM

更新日期：2018-01-01 00:00:00

abstract：:Glutamatergic dysfunction is strongly implicated in schizophrenia and mood disorders. GluA1 knockout (KO) mice display schizophrenia- and depression-related abnormalities. Here, we asked whether GluA1 KO show mania-related abnormalities. KO were tested for behavior in approach/avoid conflict tests, responses to repeat...

journal_title：Neurobiology of disease

authors： Fitzgerald PJ,Barkus C,Feyder M,Wiedholz LM,Chen YC,Karlsson RM,Machado-Vieira R,Graybeal C,Sharp T,Zarate C,Harvey-White J,Du J,Sprengel R,Gass P,Bannerman D,Holmes A

更新日期：2010-12-01 00:00:00

abstract：:We investigated two measures of neural integrity, T1-weighted volumetric measures and diffusion tensor imaging (DTI), and explored their combined potential to differentiate pre-diagnosis Huntington's disease (pre-HD) individuals from healthy controls. We applied quadratic discriminant analysis (QDA) to discriminate pr...

journal_title：Neurobiology of disease

authors： Georgiou-Karistianis N,Gray MA,Domínguez D JF,Dymowski AR,Bohanna I,Johnston LA,Churchyard A,Chua P,Stout JC,Egan GF

更新日期：2013-03-01 00:00:00

abstract：:Tumor necrosis factor-alpha (TNF-alpha) is critically involved in inflammation and may participate in hippocampal injury in bacterial meningitis. In a mouse model of ceftriaxone-treated pneumococcal meningitis, spatial memory and motor performance of TNF-alpha-deficient (n = 57) and control mice (n = 55) were investig...

journal_title：Neurobiology of disease

authors： Gerber J,Böttcher T,Hahn M,Siemer A,Bunkowski S,Nau R

更新日期：2004-06-01 00:00:00

abstract：:In the present study we analyze the molecular mechanisms underlying motor neuron degeneration in familial amyotrophic lateral sclerosis (FALS). For this, we used a transgenic mouse model expressing the Cu/Zn superoxide dismutase (SOD1) gene with a Gly(86) to Arg (G86R) mutation equivalent to that found in a subset of ...

journal_title：Neurobiology of disease

authors： Dupuis L,de Tapia M,René F,Lutz-Bucher B,Gordon JW,Mercken L,Pradier L,Loeffler JP

更新日期：2000-08-01 00:00:00

abstract：:Carriers of FMR1 premutation alleles have 55-200 CGG repeats in the 5' untranslated region of the gene. These individuals are at risk for fragile X associated primary ovarian insufficiency (females) and, in late life, fragile X associated tremor and ataxia syndrome (males, and to a lesser extent, females). Premutation...

journal_title：Neurobiology of disease

authors： Qin M,Entezam A,Usdin K,Huang T,Liu ZH,Hoffman GE,Smith CB

更新日期：2011-04-01 00:00:00

abstract：:Mutations in the gene for DJ-1 have been associated with early-onset autosomal recessive parkinsonism. Previous studies of null DJ-1 mice have shown alterations in striatal dopamine (DA) transmission with no DAergic cell loss. Here we characterize a new line of DJ-1-deficient mice. A subtle locomotor deficit was prese...

journal_title：Neurobiology of disease

authors： Manning-Boğ AB,Caudle WM,Perez XA,Reaney SH,Paletzki R,Isla MZ,Chou VP,McCormack AL,Miller GW,Langston JW,Gerfen CR,Dimonte DA

更新日期：2007-08-01 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：:The mechanism of status epilepticus-induced neuronal death in the immature brain is not fully understood. In the present study, we examined the contribution of caspases in our lithium-pilocarpine model of status epilepticus in 14 days old rat pups. In CA1, upregulation of caspase-8, but not caspase-9, preceded caspase...

journal_title：Neurobiology of disease

authors： Lopez-Meraz ML,Wasterlain CG,Rocha LL,Allen S,Niquet J

更新日期：2010-02-01 00:00:00

abstract：:Decreased release probability (Pr) and increased failure rate for monosynaptic inhibitory postsynaptic currents (IPSCs) indicate abnormalities in presynaptic inhibitory terminals on pyramidal (Pyr) neurons of the undercut (UC) model of posttraumatic epileptogenesis. These indices of inhibition are normalized in high [...

journal_title：Neurobiology of disease

authors： Faria LC,Parada I,Prince DA

更新日期：2012-02-01 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：:The clinical trials employing neuroprotectants targeting single, early pathogenic mechanisms in stroke have so far been barely successful. We found in human postmortem stroke brains that in addition to apoptosis, necroptosis also contributed to neuronal damage. Thus, a new strategy targeting both mechanisms might be n...

journal_title：Neurobiology of disease

authors： Han F,Guan X,Guo W,Lu B

更新日期：2019-07-01 00:00:00

abstract：:Alzheimer's disease (AD) is the most common dementia worldwide and is characterized by the presence of senile plaques by amyloid-beta (Aβ) and neurofibrillary tangles of hyperphosphorylated Tau protein. These changes lead to progressive neuronal degeneration and dysfunction, resulting in severe brain atrophy and cogni...

journal_title：Neurobiology of disease

authors： Calió ML,Mosini AC,Marinho DS,Salles GN,Massinhani FH,Ko GM,Porcionatto MA

更新日期：2021-01-01 00:00:00

abstract：:Prevalent in approximately 20% of the worldwide human population, the rs6265 (also called 'Val66Met') single nucleotide polymorphism (SNP) in the gene for brain-derived neurotrophic factor (BDNF) is a common genetic variant that can alter therapeutic responses in individuals with Parkinson's disease (PD). Possession o...

journal_title：Neurobiology of disease

authors： Mercado NM,Stancati JA,Sortwell CE,Mueller RL,Boezwinkle SA,Duffy MF,Fischer DL,Sandoval IM,Manfredsson FP,Collier TJ,Steece-Collier K

更新日期：2021-01-01 00:00:00

abstract：:Spinal muscular atrophy (SMA), a genetic neurodegenerative disorder, is caused by mutations or deletions in the survival of motor neuron 1 (SMN1) gene that result in SMN deficiency. SMN deficiency impairs microtubule networks in Smn-deficient cells and in SMA-like motor neuron cultures. Microtubule defects can be rest...

journal_title：Neurobiology of disease

authors： Wen HL,Ting CH,Liu HC,Li H,Lin-Chao S

更新日期：2013-04-01 00:00:00

abstract：:Although the incidence of seizures after a cerebrovascular event including intracerebral hemorrhage has been widely recognized, the present studies have demonstrated that generalized convulsive seizures can cause multifocal amygdaloallocortical hemorrhage and tissue necrosis, the origin of which remains to be establis...

journal_title：Neurobiology of disease

authors： Mraovitch S,Calando Y,Régnier A,Lamproglou I,Vicaut E

更新日期：2005-08-01 00:00:00

abstract：:Presenilin 1 (PSEN1) mutations are the main cause of autosomal dominant Early-onset Alzheimer Disease (EOAD). Among them, deletions of exon 9 have been reported to be associated with a phenotype of spastic paraparesis. Using exome data from a large sample of 522 EOAD cases and 584 controls to search for genomic copy-n...

journal_title：Neurobiology of disease

authors： Le Guennec K,Veugelen S,Quenez O,Szaruga M,Rousseau S,Nicolas G,Wallon D,Fluchere F,Frébourg T,De Strooper B,Campion D,Chávez-Gutiérrez L,Rovelet-Lecrux A

更新日期：2017-08-01 00:00:00

abstract：:Clinical studies indicate that phenytoin prevents acute post-traumatic seizures but not subsequent post-traumatic epilepsy. We explored this phenomenon using organotypic hippocampal slice cultures as a model of severe traumatic brain injury. Hippocampal slices were cultured for up to eight weeks, during which acute an...

journal_title：Neurobiology of disease

authors： Berdichevsky Y,Dzhala V,Mail M,Staley KJ

更新日期：2012-02-01 00:00:00

abstract：:Deep brain stimulation of certain target structures within the basal ganglia is an effective therapy for the management of the motor symptoms of Parkinson's disease. However, its mechanisms, as well as the pathophysiology of Parkinson's disease, are varied and complex. The classical model of Parkinson's disease states...

journal_title：Neurobiology of disease

authors： Milosevic L,Gramer R,Kim TH,Algarni M,Fasano A,Kalia SK,Hodaie M,Lozano AM,Popovic MR,Hutchison WD

更新日期：2019-04-01 00:00:00

abstract：:The hippocampus is often injured in neonatal stroke. We have investigated the effect of erythropoietin (EPO) on oxygen-glucose deprived hippocampal slices and hypoxic progenitor cells. EPO improved survival of the organotypic hippocampal slices with significantly less cell death in the dentate gyrus and an increased n...

journal_title：Neurobiology of disease

authors： Osredkar D,Sall JW,Bickler PE,Ferriero DM

更新日期：2010-05-01 00:00:00

abstract：:Ischemic stroke remains a leading cause of disability worldwide. Surviving patients often suffer permanent neurological impairments, and spontaneous recovery rarely occurs. However, observations that early-life brain injuries, including strokes, elicit less severe long-term functional impairments, compared to adults, ...

journal_title：Neurobiology of disease

authors： Teo L,Boghdadi AG,de Souza M,Bourne JA

更新日期：2018-03-01 00:00:00

abstract：:A wide spectrum of focal, regional, or diffuse structural brain abnormalities, collectively known as malformations of cortical development (MCDs), frequently manifest with intellectual disability (ID), epilepsy, and/or autistic spectrum disorder (ASD). As the acronym suggests, MCDs are perturbations of the normal arch...

journal_title：Neurobiology of disease

authors： Stouffer MA,Golden JA,Francis F

更新日期：2016-08-01 00:00:00

abstract：:Sleep plays a critical role in the process of memory consolidation. In particular, during non-rapid eye movement (NREM) slow wave sleep, slow-oscillations, spindles, hippocampal sharp wave ripples, and their phase coupling are involved in the process of transferring and consolidating information recently encoded and t...

journal_title：Neurobiology of disease

authors： Grimaldi D,Papalambros NA,Zee PC,Malkani RG

更新日期：2020-07-01 00:00:00

abstract：:Mutations in the voltage-gated sodium channel SCN1A are responsible for a number of seizure disorders including Generalized Epilepsy with Febrile Seizures Plus (GEFS+) and Severe Myoclonic Epilepsy of Infancy (SMEI). To determine the effects of SCN1A mutations on channel function in vivo, we generated a bacterial arti...

journal_title：Neurobiology of disease

authors： Tang B,Dutt K,Papale L,Rusconi R,Shankar A,Hunter J,Tufik S,Yu FH,Catterall WA,Mantegazza M,Goldin AL,Escayg A

更新日期：2009-07-01 00:00:00