White matter connectivity reflects clinical and cognitive status in Huntington's disease.

abstract：:Charcot-Marie-Tooth disease is a commonly inherited form of neuropathy. Although named over 100 years ago, identification of subtypes of Charcot-Marie-Tooth has rapidly expanded in the preceding decades with the advancement of genetic sequencing, including type 2F (CMT2F), due to mutations in heat shock protein 27 (Hs...

journal_title：Neurobiology of disease

authors： Schwartz NU

更新日期：2019-10-01 00:00:00

abstract：:GDAP1 is an outer mitochondrial membrane protein that acts as a regulator of mitochondrial dynamics. Mutations of the GDAP1 gene cause Charcot-Marie-Tooth (CMT) neuropathy. We show that GDAP1 interacts with the vesicle-organelle trafficking proteins RAB6B and caytaxin, which suggests that GDAP1 may participate in the ...

journal_title：Neurobiology of disease

authors： Pla-Martín D,Rueda CB,Estela A,Sánchez-Piris M,González-Sánchez P,Traba J,de la Fuente S,Scorrano L,Renau-Piqueras J,Alvarez J,Satrústegui J,Palau F

更新日期：2013-07-01 00:00:00

abstract：:Neural transplantation has been investigated experimentally and clinically for the purpose of developing new treatment options for intractable epilepsy. In the present study we assessed the anticonvulsant efficacy and safety of bilateral allotransplantation of genetically engineered striatal GABAergic rat cell lines i...

journal_title：Neurobiology of disease

authors： Nolte MW,Löscher W,Herden C,Freed WJ,Gernert M

更新日期：2008-09-01 00:00:00

abstract：:NAP (NAPVSIPQ) provides broad neuroprotection through microtubule interaction. Here, NAP was investigated for neuroprotection in an in vivo tauopathy model. Transgenic mice (2-month-old) that express the human double mutant tau protein [P301S;K257T] fused to the tau promoter, were subjected to daily intranasal drug tr...

journal_title：Neurobiology of disease

authors： Shiryaev N,Jouroukhin Y,Giladi E,Polyzoidou E,Grigoriadis NC,Rosenmann H,Gozes I

更新日期：2009-05-01 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：: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：:Intraneocortical injection of ibotenate, a glutamate analog, in newborn mice produces damage mimicking lesions observed in human infants with cerebral palsy. Previous research using this model has demonstrated that pretreatment with IL-9, a Th2 cytokine, significantly exacerbated excitotoxic brain lesions. The goal of...

journal_title：Neurobiology of disease

authors： Mesplès B,Fontaine RH,Lelièvre V,Launay JM,Gressens P

更新日期：2005-02-01 00:00:00

abstract：:Pathological gambling (PG) represents a behavioral side effect of dopamine replacement therapy in a minority of patients with Parkinson's disease (PD). Using striatal dopamine transporter (DAT) with single photon emission tomography we assessed presynaptic dopaminergic function in 8 PD patients with PG, 21 matched PD ...

journal_title：Neurobiology of disease

authors： Cilia R,Ko JH,Cho SS,van Eimeren T,Marotta G,Pellecchia G,Pezzoli G,Antonini A,Strafella AP

更新日期：2010-07-01 00:00:00

abstract：:In injury and disease, microglia and astrocytes - two major non-neuronal cell types in the central nervous system (CNS) - undergo morphological, transcriptional, and functional changes, which can underlie pathogenesis and dysfunction of the CNS. Microglia, the brain's tissue resident parenchymal macrophages, are descr...

journal_title：Neurobiology of disease

authors： Bennett ML,Viaene AN

更新日期：2021-01-01 00:00:00

abstract：:We have used a quantitative in situ hybridization method with human ribonucleotide probes to examine the regional and cellular distribution of N-methyl-D-aspartate receptor (NMDAR) subunit mRNAs in the human cerebellum. Purkinje cells showed very dense labeling for NMDAR1 mRNA, dense labeling for NMDAR2A mRNA, and mod...

journal_title：Neurobiology of disease

authors： Scherzer CR,Landwehrmeyer GB,Kerner JA,Standaert DG,Hollingsworth ZR,Daggett LP,Veliçelebi G,Penney JB Jr,Young AB

更新日期：1997-01-01 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：: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：: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：:Amino-terminal fragments of huntingtin (htt) appear to result from proteolytic processing of the full-length protein in Huntington's disease (HD), and fragments containing pathological expansions of polyglutamine elicit toxicity in model systems. Such fragments are sequestered into insoluble aggregates, which may init...

journal_title：Neurobiology of disease

authors： Miller TW,Zhou C,Gines S,MacDonald ME,Mazarakis ND,Bates GP,Huston JS,Messer A

更新日期：2005-06-01 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：:Disturbances in central serotonergic systems have been hypothesized to be involved in seasonal affective disorder (SAD). Association between SAD and the shorter allele of the serotonin transporter promoter repeat length polymorphism (5-HTTLPR) has been reported in an American sample. We have genotyped 82 SAD patients ...

journal_title：Neurobiology of disease

authors： Johansson C,Smedh C,Partonen T,Pekkarinen P,Paunio T,Ekholm J,Peltonen L,Lichtermann D,Palmgren J,Adolfsson R,Schalling M

更新日期：2001-04-01 00:00:00

abstract：:There is evidence that cognitive decline in Alzheimer's disease (AD) results from deficiencies in synaptic communication (e.g., loss of mushroom-shaped 'memory spines') and neurodegenerative processes. This might be treated with sigma-1 receptor (S1R) agonists, which are broadly neuroprotective and modulate synaptic p...

journal_title：Neurobiology of disease

authors： Ryskamp D,Wu L,Wu J,Kim D,Rammes G,Geva M,Hayden M,Bezprozvanny I

更新日期：2019-04-01 00:00:00

abstract：:Both the cellular prion protein (PrP(c)) and the amyloid precursor protein (APP) are physiologically subjected to complex proteolytic processing events. While for APP the proteinases involved--alpha-, beta- and gamma-secretase--have been identified in vitro and in vivo, the cleavage of PrP(c) by now has been linked on...

journal_title：Neurobiology of disease

authors： Endres K,Mitteregger G,Kojro E,Kretzschmar H,Fahrenholz F

更新日期：2009-11-01 00:00:00

abstract：:Mechanisms determining characteristic age-of-onset for neurological diseases are largely unknown. Normal brain aging associates with robust and progressive transcriptome changes ("molecular aging"), but the intersection with disease pathways is mostly uncharacterized. Here, using cross-cohort microarray analysis of fo...

journal_title：Neurobiology of disease

authors： Glorioso C,Oh S,Douillard GG,Sibille E

更新日期：2011-02-01 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：:Experiments reported here were motivated by studies in both human epilepsy and animal models in which stunted dendritic arbors are observed. Our goal was to determine if chronic network hyperexcitability alters dendritic growth. Experiments were conducted in hippocampal slice cultures obtained from infant mice that ex...

journal_title：Neurobiology of disease

authors： Nishimura M,Owens J,Swann JW

更新日期：2008-02-01 00:00:00

abstract：:Using an in vitro translation assay to screen a human brain cDNA library, we isolated the microtubule-associated protein Tau and determined it to be a caspase-3 substrate whose C-terminal cleavage occurred during neuronal apoptosis. DeltaTau, the 50-kDa cleavage product, was detected by Western blot in apoptotic corti...

journal_title：Neurobiology of disease

authors： Chung CW,Song YH,Kim IK,Yoon WJ,Ryu BR,Jo DG,Woo HN,Kwon YK,Kim HH,Gwag BJ,Mook-Jung IH,Jung YK

更新日期：2001-02-01 00:00:00

abstract：:We determined whether the preferential toxicity of tetrahydrobiopterin (BH4) on dopamine-producing cells, which we have previously observed in vitro, might also occur in vivo and generate characteristics associated with Parkinson's disease. Intrastriatal BH4 injection caused a loss of tyrosine hydroxylase immunoreacti...

journal_title：Neurobiology of disease

authors： Kim SW,Jang YJ,Chang JW,Hwang O

更新日期：2003-07-01 00:00:00

abstract：:Amyotrophic lateral sclerosis (ALS) is characterised by substantial loss of both upper and lower motor neuron function, with sensory and cognitive systems less affected. Though heritable forms of the disease have been described, the vast majority of cases are sporadic with poorly defined underlying pathogenic mechanis...

journal_title：Neurobiology of disease

authors： Peters OM,Millership S,Shelkovnikova TA,Soto I,Keeling L,Hann A,Marsh-Armstrong N,Buchman VL,Ninkina N

更新日期：2012-10-01 00:00:00

abstract：:Senile plaques composed mainly of beta-amyloid (Abeta) and neurofibrillary tangles principally composed of hyperphosphorylated tau are the major pathological features of Alzheimer's disease (AD). Despite the fact that increased expression of amyloid precursor protein (APP) and presenilin-1 (PS1) transgenes in mice lea...

journal_title：Neurobiology of disease

authors： Kurt MA,Davies DC,Kidd M,Duff K,Howlett DR

更新日期：2003-10-01 00:00:00

abstract：:The spreading of pathology through neuronal pathways is likely to be the cause of the progressive cognitive loss observed in Alzheimer's disease (AD) and other neurodegenerative diseases. We have recently shown the propagation of AD pathology via cell-to-cell transfer of oligomeric amyloid beta (Aβ) residues 1-42 (oAβ...

journal_title：Neurobiology of disease

authors： Domert J,Rao SB,Agholme L,Brorsson AC,Marcusson J,Hallbeck M,Nath S

更新日期：2014-05-01 00:00:00

abstract：:Immunization of mouse models of Alzheimer disease (AD) with amyloid-peptide (Abeta) reduces Abeta deposits and attenuates their memory and learning deficits. Recent clinical trials were halted due to meningoencephalitis, presumably induced by T cell mediated and/or Fc-mediated immune responses. Because injection of an...

journal_title：Neurobiology of disease

authors： Fukuchi K,Tahara K,Kim HD,Maxwell JA,Lewis TL,Accavitti-Loper MA,Kim H,Ponnazhagan S,Lalonde R

更新日期：2006-09-01 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：:The activation of soluble guanylate cyclase by nitric oxide is increased in the frontal cortex but is reduced in the cerebellum of patients who died with liver cirrhosis. The aims of this work were to assess whether hyperammonemia is responsible for the region-selective alterations in guanylate cyclase modulation in l...

journal_title：Neurobiology of disease

authors： Rodrigo R,Erceg S,Felipo V

更新日期：2005-06-01 00:00:00

abstract：:Familial amyotrophic lateral sclerosis (FALS) has been modeled in transgenic mice by introducing mutated versions of human genomic DNA encompassing the entire gene for Cu,Zn superoxide dismutase (SOD1). In this setting, the transgene is expressed throughout the body and results in mice that faithfully recapitulate man...

journal_title：Neurobiology of disease

authors： Wang J,Xu G,Slunt HH,Gonzales V,Coonfield M,Fromholt D,Copeland NG,Jenkins NA,Borchelt DR

更新日期：2005-12-01 00:00:00