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：: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：: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：:Microglia, a type of immune cell in the brain, are in a ramified status with branched processes in normal conditions. Upon pathological stimulation, microglia retract their processes and become activated. Searching methods to make the activated microglia return to ramified status would help cope with injuries induced ...

journal_title：Neurobiology of disease

authors： Wang P,Zhang Y,Gong Y,Yang R,Chen Z,Hu W,Wu Y,Gao M,Xu X,Qin Y,Huang C

更新日期：2018-03-01 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：:Acoustically evoked seizures (e.g., audiogenic seizures or AGS) are common in models of inherited epilepsy and occur in a variety of species including rat, mouse, and hamster. Two models that have been particularly well studied are the genetically epilepsy prone rat (GEPR-3) and the Wistar Audiogenic Rat (WAR) strains...

journal_title：Neurobiology of disease

authors： Lee Y,Rodriguez OC,Albanese C,Santos VR,Cortes de Oliveira JA,Donatti ALF,Fernandes A,Garcia-Cairasco N,N'Gouemo P,Forcelli PA

更新日期：2018-03-01 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：: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：: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：:Recent work has demonstrated the importance of miRNAs in the pathogenesis of various brain disorders including the neurodegenerative disorder spinocerebellar ataxia (SCA). This review focuses on the role of miRNAs in the shared pathogenesis of the different SCA types. We examine the novel findings of a recent cell-typ...

journal_title：Neurobiology of disease

authors： van der Stijl R,Withoff S,Verbeek DS

更新日期：2017-12-01 00:00:00

abstract：:Deletion of the mTOR pathway inhibitor PTEN from postnatally-generated hippocampal dentate granule cells causes epilepsy. Here, we conducted field potential, whole cell recording and single cell morphology studies to begin to elucidate the mechanisms by which granule cell-specific PTEN-loss produces disease. Cells fro...

journal_title：Neurobiology of disease

authors： Santos VR,Pun RYK,Arafa SR,LaSarge CL,Rowley S,Khademi S,Bouley T,Holland KD,Garcia-Cairasco N,Danzer SC

更新日期：2017-12-01 00:00:00

abstract：:Duplication 15q syndrome (Dup15q) is an autism-associated disorder co-incident with high rates of pediatric epilepsy. Additional copies of the E3 ubiquitin ligase UBE3A are thought to cause Dup15q phenotypes, yet models overexpressing UBE3A in neurons have not recapitulated the epilepsy phenotype. We show that Drosoph...

journal_title：Neurobiology of disease

authors： Hope KA,LeDoux MS,Reiter LT

更新日期：2017-12-01 00:00:00

abstract：:Neural stem cells (NSCs) are multipotent, self-renewing progenitors that generate progeny that differentiate into neurons and glia. NSCs in the adult mammalian brain are generally quiescent. Environmental stimuli such as learning or exercise can activate quiescent NSCs, inducing them to proliferate and produce new neu...

journal_title：Neurobiology of disease

authors： Otsuki L,Brand AH

更新日期：2017-11-01 00:00:00

abstract：:Multiple lines of evidence implicate striatal dysfunction in the pathogenesis of dystonia, including in DYT1, a common inherited form of the disease. The impact of striatal dysfunction on connected motor circuits and their interaction with other brain regions is poorly understood. Conditional knock-out (cKO) of the DY...

journal_title：Neurobiology of disease

authors： DeSimone JC,Pappas SS,Febo M,Burciu RG,Shukla P,Colon-Perez LM,Dauer WT,Vaillancourt DE

更新日期：2017-10-01 00:00:00

abstract：:Alzheimer's disease (AD) involves changes in both lipid and RNA metabolism, but it remained unknown if these differences associate with AD's cognition and/or post-mortem neuropathology indices. Here, we report RNA-sequencing evidence of inter-related associations between lipid processing, cognition level, and AD neuro...

journal_title：Neurobiology of disease

authors： Barbash S,Garfinkel BP,Maoz R,Simchovitz A,Nadorp B,Guffanti A,Bennett ER,Nadeau C,Türk A,Paul L,Reda T,Li Y,Buchman AS,Greenberg DS,Seitz A,Bennett DA,Giavalisco P,Soreq H

更新日期：2017-10-01 00:00:00

abstract：:Parkinson's Disease (PD) and Multiple System Atrophy (MSA) are neurodegenerative diseases characterized neuropathologically by alpha-synuclein accumulation in brain cells. This accumulation is hypothesized to contribute to constitutive neuroinflammation, and to participate in the neurodegeneration. Cytokines, which ar...

journal_title：Neurobiology of disease

authors： Rydbirk R,Elfving B,Andersen MD,Langbøl MA,Folke J,Winge K,Pakkenberg B,Brudek T,Aznar S

更新日期：2017-10-01 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：:Pituitary adenylate cyclase activating polypeptide (PACAP) and its complementary receptor, PAC1, are crucial in central respiratory control. PACAP Knockout (KO) mice exhibit a SIDS-like phenotype, with an inability to overcome noxious insults, compression of baseline ventilation, and death in the early post-neonatal p...

journal_title：Neurobiology of disease

authors： Huang J,Waters KA,Machaalani R

更新日期：2017-07-01 00:00:00

abstract：:Levodopa (L-DOPA) remains the most effective pharmacological treatment for Parkinson Disease (PD) but its use is limited by the development of debilitating drug-related side effects, particularly L-DOPA induced dyskinesia (LID). LID is a consequence of long-term L-DOPA use, and in model systems is characterized by a "...

journal_title：Neurobiology of disease

authors： A Figge D,Standaert DG

更新日期：2017-06-01 00:00:00

abstract：:Charcot-Marie-Tooth disease (CMT) is a genetic disorder that can be caused by aberrations in >80 genes. CMT has heterogeneous modes of inheritance, including autosomal dominant, autosomal recessive, X-linked dominant, and X-linked recessive. Over 95% of cases are dominantly inherited. In this study, we investigated wh...

journal_title：Neurobiology of disease

authors： Lee JS,Chang EH,Koo OJ,Jwa DH,Mo WM,Kwak G,Moon HW,Park HT,Hong YB,Choi BO

更新日期：2017-04-01 00:00:00

abstract：:Following intracerebral inoculation, the BeAn 8386 strain of Theiler's virus causes persistent infection and inflammatory demyelinating encephalomyelitis in the spinal cord of T-cell defective SJL/J mice, which is widely used as a model of multiple sclerosis. In contrast, C57BL/6 (B6) mice clear the virus and develop ...

journal_title：Neurobiology of disease

authors： Bröer S,Hage E,Käufer C,Gerhauser I,Anjum M,Li L,Baumgärtner W,Schulz TF,Löscher W

更新日期：2017-03-01 00:00:00

abstract：:Cholesterol precursors and cholesterol levels are reduced in brain regions of Huntington's disease (HD) mice. Here we quantified the rate of in vivo de novo cholesterol biosynthesis in the HD brain. Samples from different brain regions and blood of the heterozygous knock-in mouse model carrying 175 CAG repeats (Q175) ...

journal_title：Neurobiology of disease

authors： Shankaran M,Di Paolo E,Leoni V,Caccia C,Ferrari Bardile C,Mohammed H,Di Donato S,Kwak S,Marchionini D,Turner S,Cattaneo E,Valenza M

更新日期：2017-02-01 00:00:00

abstract：:We identified a novel spontaneous mutant mouse showing motor symptoms that are similar to those of the dystonia musculorum (dt) mouse. The observations suggested that the mutant mice inherited the mild dt phenotype as an autosomal recessive trait. Linkage analysis showed that the causative gene was located near D1Mit3...

journal_title：Neurobiology of disease

authors： Horie M,Mekada K,Sano H,Kikkawa Y,Chiken S,Someya T,Saito K,Hossain MI,Nameta M,Abe K,Sakimura K,Ono K,Nambu A,Yoshiki A,Takebayashi H

更新日期：2016-12-01 00:00:00

abstract：:Sex differences are a well-known phenomenon in Alzheimer's disease (AD), with women having a higher risk for AD than men. Many AD mouse models display a similar sex-dependent pattern, with females showing earlier cognitive deficits and more severe neuropathology than males. However, whether those differences are relev...

journal_title：Neurobiology of disease

authors： Melnikova T,Park D,Becker L,Lee D,Cho E,Sayyida N,Tian J,Bandeen-Roche K,Borchelt DR,Savonenko AV

更新日期：2016-12-01 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：:Developing in vivo functional and structural neuroimaging assays in Dyt1 ΔGAG heterozygous knock-in (Dyt1 KI) mice provide insight into the pathophysiology underlying DYT1 dystonia. In the current study, we examined in vivo functional connectivity of large-scale cortical and subcortical networks in Dyt1 KI mice and wi...

journal_title：Neurobiology of disease

authors： DeSimone JC,Febo M,Shukla P,Ofori E,Colon-Perez LM,Li Y,Vaillancourt DE

更新日期：2016-11-01 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：:The subcallosal cingulate (SCC) region, or its rodent homologue the medial prefrontal cortex (mPFC), and midbrain dorsal raphe (DR) are crucial nodes of the widespread network implicated in emotional regulation. Stimulation of the SCC is being explored as a potential treatment for depression. Because modulation of the...

journal_title：Neurobiology of disease

authors： Srejic LR,Wood KM,Zeqja A,Hashemi P,Hutchison WD

更新日期：2016-10-01 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：:Chronic microglial activation has been linked to the progressive degeneration of the nigrostriatal dopaminergic neurons evidenced in Parkinson's disease (PD) pathogenesis. The exact etiology of PD remains poorly understood. Although both oxidative stress and neuroinflammation are identified as co-contributors in PD pa...

journal_title：Neurobiology of disease

authors： Gordon R,Singh N,Lawana V,Ghosh A,Harischandra DS,Jin H,Hogan C,Sarkar S,Rokad D,Panicker N,Anantharam V,Kanthasamy AG,Kanthasamy A

更新日期：2016-09-01 00:00:00

abstract：:Rare de novo mutations in genes associated with inherited Mendelian disorders are potential contributors to sporadic disease. DYT1 dystonia is an autosomal dominant, early-onset, generalized dystonia associated with an in-frame, trinucleotide deletion (n. delGAG, p. ΔE 302/303) in the Tor1a gene. Here we examine the s...

journal_title：Neurobiology of disease

authors： Bhagat SL,Qiu S,Caffall ZF,Wan Y,Pan Y,Rodriguiz RM,Wetsel WC,Badea A,Hochgeschwender U,Calakos N

更新日期：2016-09-01 00:00:00

abstract：:In this review, we highlight critical unresolved questions in the etiology and mechanisms causing preterm brain injury. Involvement of neurons, glia, endogenous factors and exogenous exposures is considered. The structural and functional correlates of interrupted development and injury in the premature brain are under...

journal_title：Neurobiology of disease

authors： Penn AA,Gressens P,Fleiss B,Back SA,Gallo V

更新日期：2016-08-01 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：:Alzheimer disease (AD) is initially characterized as a disease of the synapse that affects synaptic transmission and synaptic plasticity. While amyloid-beta and tau have been traditionally implicated in causing AD, recent studies suggest that other factors, such as the intracellular domain of the amyloid-precursor pro...

journal_title：Neurobiology of disease

authors： Trillaud-Doppia E,Paradis-Isler N,Boehm J

更新日期：2016-07-01 00:00:00

abstract：BACKGROUND:Toxoplasma gondii is a pathogen implicated in psychiatric disorders. As elevated antibodies to T. gondii are also present in non-symptomatic individuals, we hypothesized that the age during first exposure to the pathogen may affect symptom manifestation. We tested this hypothesis by evaluating neurobehaviora...

journal_title：Neurobiology of disease

authors： Kannan G,Crawford JA,Yang C,Gressitt KL,Ihenatu C,Krasnova IN,Cadet JL,Yolken RH,Severance EG,Pletnikov MV

更新日期：2016-07-01 00:00:00

abstract：:T cells are believed to be key effector cells in multiple sclerosis (MS). In this study, we examined the roles of T cell ephrinB1 (EFNB1) and ephrinB2 (EFNB2) in the pathogenesis of experimental autoimmune encephalomyelitis (EAE) and MS. We provide evidence that animals with T cell specific double deletion of EFNB1 an...

journal_title：Neurobiology of disease

authors： Luo H,Broux B,Wang X,Hu Y,Ghannam S,Jin W,Larochelle C,Prat A,Wu J

更新日期：2016-07-01 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：:Alzheimer disease (AD) is the most prevalent form of dementia. Loss of hippocampal synapses is the first neurodegenerative event in AD. Synaptic loss has been associated with the accumulation in the brain parenchyma of soluble oligomeric forms of amyloid β peptide (Aβ1-42wt). Clinical observations have shown that a mu...

journal_title：Neurobiology of disease

authors： Cimini S,Sclip A,Mancini S,Colombo L,Messa M,Cagnotto A,Di Fede G,Tagliavini F,Salmona M,Borsello T

更新日期：2016-05-01 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 pathophysiology of Parkinson's disease (PD) and of L-DOPA-induced dyskinesia (LID) is associated with dysfunctional neuronal activity in several nuclei of the basal ganglia. Moreover, high levels of oscillatory activity and synchronization have also been described in both intra- and inter-basal ganglia nuclei and ...

journal_title：Neurobiology of disease

authors： Aristieta A,Ruiz-Ortega JA,Miguelez C,Morera-Herreras T,Ugedo L

更新日期：2016-05-01 00:00:00