当前位置： SCI文献检索 > NEUROBIOLOGY OF DISEASE期刊下所有文献 > A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation.

A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation.

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 artificial chromosome (BAC) transgenic mouse model that expresses the human SCN1A GEFS+ mutation, R1648H. Mice with the R1648H mutation exhibit a more severe response to the proconvulsant kainic acid compared with mice expressing a control Scn1a transgene. Electrophysiological analysis of dissociated neurons from mice with the R1648H mutation reveal delayed recovery from inactivation and increased use-dependent inactivation only in inhibitory bipolar neurons, as well as a hyperpolarizing shift in the voltage dependence of inactivation only in excitatory pyramidal neurons. These results demonstrate that the effects of SCN1A mutations are cell type-dependent and that the R1648H mutation specifically leads to a reduction in interneuron excitability.

journal_name

Neurobiol Dis

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

doi

10.1016/j.nbd.2009.04.007

subject

Has Abstract

pub_date

2009-07-01 00:00:00

pages

91-102

issue

1

eissn

0969-9961

issn

1095-953X

pii

S0969-9961(09)00084-9

journal_volume

35

pub_type

杂志文章

相关文献

NEUROBIOLOGY OF DISEASE文献大全
  • Sex dimorphism in seizure-controlling networks.

    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

    pub_type： 杂志文章,评审

    doi：10.1016/j.nbd.2014.05.010

    authors： Giorgi FS,Galanopoulou AS,Moshé SL

    更新日期：2014-12-01 00:00:00

  • An altered peripheral IL6 response in major depressive disorder.

    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

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2016.01.015

    authors： Money KM,Olah Z,Korade Z,Garbett KA,Shelton RC,Mirnics K

    更新日期：2016-05-01 00:00:00

  • Cholesterol retention in Alzheimer's brain is responsible for high beta- and gamma-secretase activities and Abeta production.

    abstract：:Alzheimer's disease (AD) is characterized by overproduction of A beta derived from APP cleavage via beta- and gamma-secretase pathway. Recent evidence has linked altered cholesterol metabolism to AD pathogenesis. In this study, we show that AD brain had significant cholesterol retention and high beta- and gamma-secret...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2007.10.005

    authors： Xiong H,Callaghan D,Jones A,Walker DG,Lue LF,Beach TG,Sue LI,Woulfe J,Xu H,Stanimirovic DB,Zhang W

    更新日期：2008-03-01 00:00:00

  • Functional genomics, genetic risk profiling and cell phenotypes in neurodegenerative disease.

    abstract：:Human genetics provides unbiased insights into the causes of human disease, which can be used to create a foundation for effective ways to more accurately diagnose patients, stratify patients for more successful clinical trials, discover and develop new therapies, and ultimately help patients choose the safest and mos...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章,评审

    doi：10.1016/j.nbd.2020.105088

    authors： Finkbeiner S

    更新日期：2020-12-01 00:00:00

  • Neuromodulation targets pathological not physiological beta bursts during gait in Parkinson's disease.

    abstract：:Freezing of gait (FOG) is a devastating axial motor symptom in Parkinson's disease (PD) leading to falls, institutionalization, and even death. The response of FOG to dopaminergic medication and deep brain stimulation (DBS) is complex, variable, and yet to be optimized. Fundamental gaps in the knowledge of the underly...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2018.09.004

    authors： Anidi C,O'Day JJ,Anderson RW,Afzal MF,Syrkin-Nikolau J,Velisar A,Bronte-Stewart HM

    更新日期：2018-12-01 00:00:00

  • Beta burst coupling across the motor circuit in Parkinson's disease.

    abstract：:Exaggerated activity in the beta band (13-35 Hz) is a hallmark of basal ganglia signals in patients with Parkinson's disease (PD). Beta activity however is not constantly elevated, but comes in bursts. In previous work we showed that the longer beta bursts are maintained, the more the oscillatory synchronisation withi...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2018.06.007

    authors： Tinkhauser G,Torrecillos F,Duclos Y,Tan H,Pogosyan A,Fischer P,Carron R,Welter ML,Karachi C,Vandenberghe W,Nuttin B,Witjas T,Régis J,Azulay JP,Eusebio A,Brown P

    更新日期：2018-09-01 00:00:00

  • Brain molecular aging, promotion of neurological disease and modulation by sirtuin 5 longevity gene polymorphism.

    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

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2010.09.016

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

    更新日期：2011-02-01 00:00:00

  • A multiomic approach to characterize the temporal sequence in Alzheimer's disease-related pathology.

    abstract：:No single-omic approach completely elucidates the multitude of alterations taking place in Alzheimer's disease (AD). Here, we coupled transcriptomic and phosphoproteomic approaches to determine the temporal sequence of changes in mRNA, protein, and phosphopeptide expression levels from human temporal cortical samples,...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2018.12.009

    authors： Marttinen M,Paananen J,Neme A,Mitra V,Takalo M,Natunen T,Paldanius KMA,Mäkinen P,Bremang M,Kurki MI,Rauramaa T,Leinonen V,Soininen H,Haapasalo A,Pike I,Hiltunen M

    更新日期：2019-04-01 00:00:00

  • Lack of CCR5 modifies glial phenotypes and population of the nigral dopaminergic neurons, but not MPTP-induced dopaminergic neurodegeneration.

    abstract：:Constitutive expression of C-C chemokine receptor (CCR) 5 has been detected in astrocytes, microglia and neurons, but its physiological roles in the central nervous system are obscure. The bidirectional interactions between neuron and glial cells through CCR5 and its ligands were thought to be crucial for maintaining ...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2012.08.001

    authors： Choi DY,Lee MK,Hong JT

    更新日期：2013-01-01 00:00:00

  • Dap12 and Trem2, molecules involved in innate immunity and neurodegeneration, are co-expressed in the CNS.

    abstract：:Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) is a recessively inherited disease characterized by early onset dementia associated with bone cysts. Our group has recently established the molecular background of PLOSL by identifying mutations in DAP12 and TREM2 genes. To understand...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2004.09.007

    authors： Kiialainen A,Hovanes K,Paloneva J,Kopra O,Peltonen L

    更新日期：2005-03-01 00:00:00

  • Pmp22 mutant allele-specific siRNA alleviates demyelinating neuropathic phenotype in vivo.

    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

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2017.01.006

    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

  • DJ-1 associates with synaptic membranes.

    abstract：:Parkinson's disease (PD) is a neurodegenerative disorder caused by loss of dopaminergic neurons. Although many reports have suggested that genetic factors are implicated in the pathogenesis of PD, molecular mechanisms underlying selective dopaminergic neuronal degeneration remain unknown. DJ-1 is a causative gene for ...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2011.05.014

    authors： Usami Y,Hatano T,Imai S,Kubo S,Sato S,Saiki S,Fujioka Y,Ohba Y,Sato F,Funayama M,Eguchi H,Shiba K,Ariga H,Shen J,Hattori N

    更新日期：2011-09-01 00:00:00

  • (G2019S) LRRK2 causes early-phase dysfunction of SNpc dopaminergic neurons and impairment of corticostriatal long-term depression in the PD transgenic mouse.

    abstract：:Twelve- to sixteen-month-old (G2019S) LRRK2 transgenic mice prepared by us displayed progressive neuronal death of substantia nigra pars compacta (SNpc) dopaminergic cells. In the present study, we hypothesized that prior to a late-phase death of SNpc dopaminergic neurons, (G2019S) LRRK2 also causes an early-phase neu...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2014.04.021

    authors： Chou JS,Chen CY,Chen YL,Weng YH,Yeh TH,Lu CS,Chang YM,Wang HL

    更新日期：2014-08-01 00:00:00

  • Elevated GDNF levels following viral vector-mediated gene transfer can increase neuronal death after stroke in rats.

    abstract：:Previous studies have indicated that administration of glial cell line-derived neurotrophic factor (GDNF) counteracts neuronal death after stroke. However, in these studies damage was evaluated at most a few days after the insult. Here, we have explored the long-term consequences of two routes of GDNF delivery to the ...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2003.08.002

    authors： Arvidsson A,Kirik D,Lundberg C,Mandel RJ,Andsberg G,Kokaia Z,Lindvall O

    更新日期：2003-12-01 00:00:00

  • Post-seizures amygdaloallocortical microvascular lesion leading to atrophy and memory impairment.

    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

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2005.01.029

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

    更新日期：2005-08-01 00:00:00

  • Role of the Fyn-PKCδ signaling in SE-induced neuroinflammation and epileptogenesis in experimental models of temporal lobe epilepsy.

    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

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2017.11.008

    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

  • Matrix metalloproteinase 9 regulates cell death following pilocarpine-induced seizures in the developing brain.

    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

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2012.06.023

    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

  • Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy.

    abstract：:Gephyrin is a postsynaptic scaffolding protein, essential for the clustering of glycine and γ-aminobutyric acid type-A receptors (GABAARs) at inhibitory synapses. An impairment of GABAergic synaptic inhibition represents a key pathway of epileptogenesis. Recently, exonic microdeletions in the gephyrin (GPHN) gene have...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2014.02.001

    authors： Dejanovic B,Lal D,Catarino CB,Arjune S,Belaidi AA,Trucks H,Vollmar C,Surges R,Kunz WS,Motameny S,Altmüller J,Köhler A,Neubauer BA,Epicure Consortium,Nürnberg P,Noachtar S,Schwarz G,Sander T

    更新日期：2014-07-01 00:00:00

  • Erythropoietin promotes hippocampal neurogenesis in in vitro models of neonatal stroke.

    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

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2010.01.015

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

    更新日期：2010-05-01 00:00:00

  • A limited role for microglia in antibody mediated plaque clearance in APP mice.

    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

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2007.07.019

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

    更新日期：2007-12-01 00:00:00

  • Brain, blood, and iron: perspectives on the roles of erythrocytes and iron in neurodegeneration.

    abstract：:The terms "neuroacanthocytosis" (NA) and "neurodegeneration with brain iron accumulation" (NBIA) both refer to groups of genetically heterogeneous disorders, classified together due to similarities of their phenotypic or pathological findings. Even collectively, the disorders that comprise these sets are exceedingly r...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章,评审

    doi：10.1016/j.nbd.2012.03.006

    authors： Prohaska R,Sibon OC,Rudnicki DD,Danek A,Hayflick SJ,Verhaag EM,Vonk JJ,Margolis RL,Walker RH

    更新日期：2012-06-01 00:00:00

  • Glia in neurodegeneration: Drivers of disease or along for the ride?

    abstract：:While much of the research on neurodegenerative diseases has focused on neurons, non-neuronal cells are also affected. The extent to which glia and other non-neuronal cells are causally involved in disease pathogenesis versus more passively responding to disease is an area of active research. This is complicated by th...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章,评审

    doi：10.1016/j.nbd.2020.104957

    authors： Gleichman AJ,Carmichael ST

    更新日期：2020-08-01 00:00:00

  • Particular vulnerability of rat mesencephalic dopaminergic neurons to tetrahydrobiopterin: Relevance to Parkinson's disease.

    abstract：:We determined whether tetrahydrobiopterin(BH4), an endogenous cofactor for dopamine(DA) synthesis, causes preferential damage to DArgic neurons among primary cultured rat mesencephalic neurons and whether the death mechanism has relevance to Parkinson's disease (PD). DArgic neurons were more vulnerable to BH4 than non...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2006.08.024

    authors： Lee SY,Moon Y,Hee Choi D,Jin Choi H,Hwang O

    更新日期：2007-01-01 00:00:00

  • Hyperleucinemia causes hippocampal retromer deficiency linking diabetes to Alzheimer's disease.

    abstract：:Type 2 diabetes (T2D) is a major risk factor for late-onset Alzheimer's disease (AD). A variety of metabolic changes related to T2D (e.g. hyperinsulinemia, hyperglycemia, and elevated branched-chain amino acids) have been proposed as mechanistic links, but the basis for this association remains unknown. Retromer-depen...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2013.12.017

    authors： Morabito MV,Berman DE,Schneider RT,Zhang Y,Leibel RL,Small SA

    更新日期：2014-05-01 00:00:00

  • Beta-amyloid 42 accumulation in the lumbar spinal cord motor neurons of amyotrophic lateral sclerosis patients.

    abstract：:Amyotrophic lateral sclerosis (ALS) is characterized by a progressive loss of large motor neurons in the brain and spinal cord. Amyloid precursor protein (APP), the transmembrane precursor of beta-amyloid (A beta), accumulates in the anterior horn motor neurons of ALS patients with mild lesions. APP undergoes an alter...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2005.01.012

    authors： Calingasan NY,Chen J,Kiaei M,Beal MF

    更新日期：2005-06-01 00:00:00

  • The role of cannabinoid 1 receptor expressing interneurons in behavior.

    abstract：:Schizophrenia is a devastating neurodevelopmental disorder that affects approximately 1% of the population. Reduced expression of the 67-kDa protein isoform of glutamic acid decarboxylase (GAD67) is a hallmark of the disease and is encoded by the GAD1 gene. In schizophrenia, GAD67 downregulation occurs in multiple int...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2013.11.001

    authors： Brown JA,Horváth S,Garbett KA,Schmidt MJ,Everheart M,Gellért L,Ebert P,Mirnics K

    更新日期：2014-03-01 00:00:00

  • Perinatal human hypoxia-ischemia vulnerability correlates with brain calcification.

    abstract：:Deregulation of intracellular calcium homeostasis is widely considered as one of the underlying pathophysiological mechanisms of hypoxic-ischemic brain injury. Whether this alteration can result in cerebral calcification was investigated in basal ganglia, cerebral cortex, and hippocampus of human premature and term ne...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1006/nbdi.2000.0332

    authors： Rodríguez MJ,Ursu G,Bernal F,Cusí V,Mahy N

    更新日期：2001-02-01 00:00:00

  • Induced pluripotent stem cell lines from Huntington's disease mice undergo neuronal differentiation while showing alterations in the lysosomal pathway.

    abstract：:Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by an excessive expansion of a CAG trinucleotide repeat in the gene encoding the protein huntingtin, resulting in an elongated stretch of glutamines near the N-terminus of the protein. Here we report the derivation of a collection of ...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2011.12.032

    authors： Castiglioni V,Onorati M,Rochon C,Cattaneo E

    更新日期：2012-04-01 00:00:00

  • Interneuronal calcium channel abnormalities in posttraumatic epileptogenic neocortex.

    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

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2011.11.006

    authors： Faria LC,Parada I,Prince DA

    更新日期：2012-02-01 00:00:00

  • Every-other-day feeding exacerbates inflammation and neuronal deficits in 5XFAD mouse model of Alzheimer's disease.

    abstract：:Food restriction has been widely associated with beneficial effects on brain aging and age-related neurodegenerative diseases such as Alzheimer's disease. However, previous studies on the effects of food restriction on aging- or pathology-related cognitive decline are controversial, emphasizing the importance of the t...

    journal_title：Neurobiology of disease

    pub_type： 杂志文章

    doi：10.1016/j.nbd.2020.104745

    authors： Lazic D,Tesic V,Jovanovic M,Brkic M,Milanovic D,Zlokovic BV,Kanazir S,Perovic M

    更新日期：2020-03-01 00:00:00