Familial Alzheimer disease associated with A713T mutation in APP.

Abstract:

:Mutations in APP are associated with familial early-onset Alzheimer disease (FAD). Examination of the genomic sequence in one patient with FAD revealed a change located in the axon 17 of the APP gene at position 275329G>A (GenBank accession number: D87675; GI: 2429080); cDNA sequence 2137G>A (GenBank accession number: X06989; GI: 28720). This corresponds to the mutation A713T in APP. AD stage VI of neurofibrillary degeneration and stage C of Abeta-amyloid burden was found at the post-mortem neuropathological examination. Previous studies have suggested that the mutation A713T in APP is a silent mutation or polymorphism. However, we have not found this change in APP in a control population analyzed by the amplification-refractory mutation system (ARMS). It is concluded that A713T in APP is implicated in the pathogenesis of AD. Since the immunohistochemical study indicates that A713T mutation is not likely to relate with Abeta-amyloid processing, the causative role of this rare mutation remains to be warranted.

journal_name

Neurosci Lett

journal_title

Neuroscience letters

authors

Armstrong J,Boada M,Rey MJ,Vidal N,Ferrer I

doi

10.1016/j.neulet.2004.08.026

keywords:

subject

Has Abstract

pub_date

2004-11-11 00:00:00

pages

241-3

issue

2-3

eissn

0304-3940

issn

1872-7972

pii

S0304-3940(04)01023-7

journal_volume

370

pub_type

杂志文章
  • Nitric oxide modulates N-methyl-D-aspartate-evoked serotonin release in the raphe nuclei and frontal cortex of the freely moving rat.

    abstract::The role of nitric oxide (NO) in N-methyl-D-aspartate (NMDA)-regulated release of 5-hydroxytryptamine (5-HT) in the frontal cortex and raphe nuclei of freely moving rats has been studied using microdialysis with dual probes, one in each region of the same animal. In order to do this the selective neuronal nitric oxide...

    journal_title:Neuroscience letters

    pub_type: 杂志文章

    doi:10.1016/s0304-3940(00)01378-1

    authors: Smith JC,Whitton PS

    更新日期:2000-09-08 00:00:00

  • Serotonin transporter-linked promoter region polymorphism and personality traits in a Japanese population.

    abstract::Serotonin transporter gene may play a critical role in a regulation of mood and other aspects of mental status. A large number of association studies have investigated a correlation between the polymorphism in the serotonin transporter-linked promoter region (5-HTTLPR) and anxiety-related personality traits. The resul...

    journal_title:Neuroscience letters

    pub_type: 杂志文章

    doi:10.1016/s0304-3940(02)01291-0

    authors: Umekage T,Tochigi M,Marui T,Kato C,Hibino H,Otani T,Kohda K,Kato N,Sasaki T

    更新日期:2003-01-30 00:00:00

  • Rat retinal ganglion cells culture enriched with the magnetic cell sorter.

    abstract::The magnetic cell sorter (MACS) technique was applied to isolate retinal ganglion cells (RGCs) for culture. RGCs were labeled retrogradely with 1.1'-dioctadecyl-3,3,3',3'-tetramethylindocarbocyanine perchlorate (Dil). Subsequently retinal cell suspensions were incubated with biotinylated anti-rat Thy-1 antibody and MA...

    journal_title:Neuroscience letters

    pub_type: 杂志文章

    doi:10.1016/s0304-3940(98)00918-5

    authors: Shoge K,Mishima HK,Mukai S,Shinya M,Ishihara K,Kanno M,Sasa M

    更新日期:1999-01-08 00:00:00

  • Enhanced binding of advanced glycation endproducts (AGE) by the ApoE4 isoform links the mechanism of plaque deposition in Alzheimer's disease.

    abstract::Alzheimer's disease (AD) brains contain high levels of advanced glycation endproducts (AGEs). Double immunostaining using anti-AGE and anti-apolipoprotein E (apoE) antibodies demonstrated that AGEs co-localized to a very high degree with apoE. We examined the binding of apoE to in vitro-prepared AGE-bovine serum album...

    journal_title:Neuroscience letters

    pub_type: 杂志文章

    doi:10.1016/s0304-3940(97)00266-8

    authors: Li YM,Dickson DW

    更新日期:1997-05-02 00:00:00

  • Increased content of immunoreactive Leu-enkephalin and alteration of delta-opioid receptor in hearts of spontaneously hypertensive rats.

    abstract::The levels of immunoreactive Leu-enkephalin (ir-Leu-Enk) were measured in acid extract of hearts and lungs of adult normotensive Wistar Kyoto (WKY) and spontaneously hypertensive (SHR) rats. Heart contents in ir-Leu-Enk were significantly higher in SHR rats (2.67 pmol/g) than in WKY rats (1.5 pmol/g). However, no sign...

    journal_title:Neuroscience letters

    pub_type: 杂志文章

    doi:10.1016/0304-3940(88)90280-7

    authors: Dumont M,Lemaire S

    更新日期:1988-11-22 00:00:00

  • Production of NGF, BDNF and GDNF in mouse astrocyte cultures is strongly enhanced by a cerebral vasodilator, ifenprodil.

    abstract::Ifenprodil, a non-competitive NMDA-receptor antagonist, has been shown to exhibit marked cytoprotective activities in animal models for focal ischemia and Parkinson's disease. To test the hypothesis that the cytoprotective effect is due to the release of neurotrophic factors (NTFs), we examined the effects of ifenprod...

    journal_title:Neuroscience letters

    pub_type: 杂志文章

    doi:10.1016/j.neulet.2004.12.063

    authors: Toyomoto M,Inoue S,Ohta K,Kuno S,Ohta M,Hayashi K,Ikeda K

    更新日期:2005-05-13 00:00:00

  • Intrinsic gamma-aminobutyric acid neurons in the nucleus of the solitary tract and the rostral ventrolateral medulla of the rat: an immunocytochemical and biochemical study.

    abstract::Sympathoexcitatory neurons in the C1 adrenergic area of the rostral ventrolateral medulla (RVL) are tonically inhibited by gamma-aminobutyric acid (GABA). To identify the source of this GABAergic input, the distribution of neurons containing glutamate decarboxylase (GAD) was determined immunocytochemically in rats tre...

    journal_title:Neuroscience letters

    pub_type: 杂志文章

    doi:10.1016/0304-3940(85)90333-7

    authors: Meeley MP,Ruggiero DA,Ishitsuka T,Reis DJ

    更新日期:1985-07-04 00:00:00

  • NMDA receptor antagonist CPP inhibits ethanol-evoked ascorbate release in the brain of freely moving rats.

    abstract::The effect of the N-methyl-D-aspartate (NMDA) receptor antagonist, 3-(2-carboxypiperazin-4-yl)propyl-1-phosphonic acid (CPP), on the ethanol-evoked release of brain ascorbate (AA) was investigated in freely moving rats using an in vivo voltammetry technique. Ethanol (1.0 g/kg, intraperitoneal injection, i.p.) increase...

    journal_title:Neuroscience letters

    pub_type: 杂志文章

    doi:10.1016/0304-3940(93)90655-5

    authors: Wu C

    更新日期:1993-07-09 00:00:00

  • The increase in morphine antinociceptive potency produced by carrageenan-induced hindpaw inflammation is blocked by naltrindole, a selective delta-opioid antagonist.

    abstract::Carrageenan-induced inflammation of the rat hindpaw has been used as a model for persistent pain of inflammatory origin. The induction of inflammation resulting from carrageenan injection in the rat hindpaw has been shown to elicit an increase in the antinociceptive potency of morphine, an effect postulated to be rela...

    journal_title:Neuroscience letters

    pub_type: 杂志文章

    doi:10.1016/0304-3940(94)11199-s

    authors: Ossipov MH,Kovelowski CJ,Porreca F

    更新日期:1995-01-30 00:00:00

  • Stimulatory effects of the central amygdaloid nucleus on pancreatic exocrine secretion in rats.

    abstract::The effects of electrical stimulation of the central (CE) and basolateral (BL) amygdaloid nuclei on pancreatic exocrine secretion were tested in urethane-anesthetized rats. Electrical stimulation (0.1 mA, 1 ms, 40 Hz) of the CE significantly increased basal and hormone (secretin+cholecystokinin-8)-infused pancreatic e...

    journal_title:Neuroscience letters

    pub_type: 杂志文章

    doi:10.1016/0304-3940(94)90352-2

    authors: Hahn SJ,Yoon SH,Sim SS,Rhie DJ,Jo YH,Kim MS

    更新日期:1994-03-14 00:00:00

  • C-fos mRNA increases in the ground squirrel suprachiasmatic nucleus during arousal from hibernation.

    abstract::During hibernation the body temperature of the golden-mantled ground squirrel, Spermophilus lateralis, may drop below 5 degrees C for a few hours to a week or more. Animals cycle between euthermia and deep hibernation many times over the course of the hibernation season. Expression of the transcription factor c-fos in...

    journal_title:Neuroscience letters

    pub_type: 杂志文章

    doi:10.1016/0304-3940(94)90723-4

    authors: Bitting L,Sutin EL,Watson FL,Leard LE,O'Hara BF,Heller HC,Kilduff TS

    更新日期:1994-01-03 00:00:00

  • Parkin is protective for substantia nigra dopamine neurons in a tau gene transfer neurodegeneration model.

    abstract::Parkin is a ubiquitin ligase involved in the ubiquitin-proteasome system. Elevating parkin expression in cells reduces markers of oxidative stress while blocking parkin expression increases oxidative stress. In parkin gene knock down mouse and fly models, mitochondria function is deficient. Parkin is neuroprotective a...

    journal_title:Neuroscience letters

    pub_type: 杂志文章

    doi:10.1016/j.neulet.2006.03.001

    authors: Klein RL,Dayton RD,Henderson KM,Petrucelli L

    更新日期:2006-06-19 00:00:00

  • Apolipoprotein E promoter and alpha2-macroglobulin polymorphisms are not genetically associated with Chinese late onset Alzheimer's disease.

    abstract::In this study, we investigated two newly reported polymorphisms in association with late onset Alzheimer's disease (AD) in Chinese. They were a -491 A/T polymorphism in the Apolipoprotein E (APOE) promoter region and a five base pair deletion at exon 18 of alpha2-Macroglobin (A2M). There were 196 AD and 180 normal con...

    journal_title:Neuroscience letters

    pub_type: 杂志文章

    doi:10.1016/s0304-3940(99)00421-8

    authors: Chen L,Baum L,Ng HK,Chan LY,Sastre I,Artíga MJ,Valdivieso F,Bullido MJ,Chiu HF,Pang CP

    更新日期:1999-07-16 00:00:00

  • Exposure to a high-fat high-sugar diet causes strong up-regulation of proopiomelanocortin and differentially affects dopamine D1 and D2 receptor gene expression in the brainstem of rats.

    abstract::A strong link between obesity and dopamine (DA) has been established by studies associating body weight status to variants of genes related to DA signalling. Human and animal studies investigating this relationship have so far focused mainly on the role of DA within the mesolimbic pathway. The aim of this study was to...

    journal_title:Neuroscience letters

    pub_type: 杂志文章

    doi:10.1016/j.neulet.2013.11.008

    authors: Alsiö J,Rask-Andersen M,Chavan RA,Olszewski PK,Levine AS,Fredriksson R,Schiöth HB

    更新日期:2014-01-24 00:00:00

  • The Cycloxygenase-2 inhibitor SC58236 is neuroprotective in an in vivo model of focal ischemia in the rat.

    abstract::Focal ischemia was induced in the fronto-parietal region of rat brain, by injection of Rose Bengal, followed by light activation. Focal ischemia was accompanied by formation of PGD(2) peaking 60-90 min post irradiation and declining thereafter. Increased Cycloxygenase-2 (COX-2) expression was also observed. Control is...

    journal_title:Neuroscience letters

    pub_type: 杂志文章

    doi:10.1016/s0304-3940(01)01675-5

    authors: Govoni S,Masoero E,Favalli L,Rozza A,Scelsi R,Viappiani S,Buccellati C,Sala A,Folco G

    更新日期:2001-05-04 00:00:00

  • Intrathecal administration of autologous bone marrow stromal cells improves neuropathic pain in patients with spinal cord injury.

    abstract::Neuropathic pain (NP) is highly disabling, responds poorly to pharmacological treatment, and represents a significant cause of decreased quality of life in patients suffering from spinal cord injury (SCI). In recent years, cell therapy with autologous mesenchymal stromal cells (MSCs) has been considered as a potential...

    journal_title:Neuroscience letters

    pub_type: 杂志文章

    doi:10.1016/j.neulet.2018.01.035

    authors: Vaquero J,Zurita M,Rico MA,Aguayo C,Fernández C,Gutiérrez R,Rodríguez-Boto G,Saab A,Hassan R,Ortega C

    更新日期:2018-03-23 00:00:00

  • Lidocaine for prolonged and intensified spinal anesthesia by coadministration of propranolol in the rat.

    abstract::Although the coadministration of lidocaine with propranolol interferes with the metabolic profile (pharmacokinetics), its pharmacodynamics is still unclear. In this report, we investigate whether propranolol can potentiate the effect of lidocaine. Rats received spinal anesthesia with lidocaine co-injected with propran...

    journal_title:Neuroscience letters

    pub_type: 杂志文章

    doi:10.1016/j.neulet.2011.08.011

    authors: Chen YW,Chu CC,Chen YC,Hung CH,Li YT,Wang JJ

    更新日期:2011-09-26 00:00:00

  • Potentiation of a behavioural response in mice by spinal coadministration of substance P and excitatory amino acid agonists.

    abstract::The functional interaction in the spinal cord between substance P and excitatory amino acid agonists was investigated. Behavioural responses were scored in mice after intrathecal administration of excitatory amino acid agonists and substance P, given separately or in combination. A strong potentiation of the effect wa...

    journal_title:Neuroscience letters

    pub_type: 杂志文章

    doi:10.1016/0304-3940(91)90072-2

    authors: Mjellem-Joly N,Lund A,Berge OG,Hole K

    更新日期:1991-11-25 00:00:00

  • Involvement of the p53 tumor-suppressor protein in the development of antinociceptive tolerance to morphine.

    abstract::The present study was designed to determine whether the p53 tumor-suppressor protein is involved in the development of antinociceptive tolerance to morphine. When the doses of morphine (mg/kg per injection) were subcutaneously given into mice as pretreatment twice daily for 2 days (first day (30) and second day (60)),...

    journal_title:Neuroscience letters

    pub_type: 杂志文章

    doi:10.1016/j.neulet.2008.11.061

    authors: Tan-No K,Shimoda M,Watanabe K,Nakagawasai O,Niijima F,Kanno S,Ishikawa M,Bakalkin G,Tadano T

    更新日期:2009-02-06 00:00:00

  • Reduced expression of brain-derived neurotrophic factor in mice deficient for pituitary adenylate cyclase activating polypeptide type-I-receptor.

    abstract::In vitro pituitary adenylate cyclase activating polypeptide (PACAP) induces the expression of brain-derived neurotrophic factor (BDNF) via its specific receptor PAC1. Since BDNF has been implicated in learning paradigms and mice lacking functional PAC1 have deficits in hippocampus-dependent associative learning, we in...

    journal_title:Neuroscience letters

    pub_type: 杂志文章

    doi:10.1016/j.neulet.2004.01.030

    authors: Zink M,Otto C,Zörner B,Zacher C,Schütz G,Henn FA,Gass P

    更新日期:2004-04-22 00:00:00

  • Sustained increase in adult neurogenesis in the rat hippocampal dentate gyrus after transient brain ischemia.

    abstract::It is known that the number of newly generated neurons is increased in the young and adult rodent subventricular zone (SVZ) and dentate gyrus (DG) after transient brain ischemia. However, it remains unclear whether increase in neurogenesis in the adult DG induced by ischemic stroke is transient or sustained. We here r...

    journal_title:Neuroscience letters

    pub_type: 杂志文章

    doi:10.1016/j.neulet.2010.10.079

    authors: Wang C,Zhang M,Sun C,Cai Y,You Y,Huang L,Liu F

    更新日期:2011-01-13 00:00:00

  • Levels of alpha- and beta-secretase cleaved amyloid precursor protein in the cerebrospinal fluid of Alzheimer's disease patients.

    abstract::Alternative cleavage of the amyloid precursor protein (APP) results in generation and secretion of both soluble APP (sAPP) and beta-amyloid (Abeta). Abeta is the main component of the amyloid depositions in the brains of Alzheimer's disease (AD) patients. Using Western blotting, we compared the levels of alpha-secreta...

    journal_title:Neuroscience letters

    pub_type: 杂志文章

    doi:10.1016/s0304-3940(99)00929-5

    authors: Sennvik K,Fastbom J,Blomberg M,Wahlund LO,Winblad B,Benedikz E

    更新日期:2000-01-14 00:00:00

  • Expression of laminin beta1 in hippocampi of patients with intractable epilepsy.

    abstract::We investigated laminin beta1 expression in the hippocampi of patients with intractable epilepsy and explored the role of laminin beta1 in the pathogenesis of this condition. Fluorescence quantitative PCR, immunofluorescence, immunohistochemistry and Western blotting were used to measure laminin beta1 expression in su...

    journal_title:Neuroscience letters

    pub_type: 杂志文章

    doi:10.1016/j.neulet.2008.07.080

    authors: Wu Y,Wang XF,Mo XA,Sun HB,Li JM,Zeng Y,Lin T,Yuan J,Xi ZQ,Zhu X,Zheng JO

    更新日期:2008-10-10 00:00:00

  • Amyloid precursor protein 17-mer peptide ameliorates hippocampal neurodegeneration in ovariectomized rats.

    abstract::Amyloid precursor protein 17-mer peptide (APP 17-mer peptide) is an active fragment of amyloid precursor protein (APP) in the nervous system that mediates various neuronal activities and functions. Estrogen deprivation during menopause disproportionately increases the risk of many neurodegenerative diseases, including...

    journal_title:Neuroscience letters

    pub_type: 杂志文章

    doi:10.1016/j.neulet.2009.07.058

    authors: Meng Y,Wang R,Yang F,Ji ZJ,Fang L,Sheng SL

    更新日期:2010-01-14 00:00:00

  • Huperzine A inhibits the sustained potassium current in rat dissociated hippocampal neurons.

    abstract::The actions of huperzine A (HupA), a novel cholinesterase inhibitor, on the sustained potassium current were investigated in acutely dissociated hippocampal neurons of rat. HupA inhibited the current (IC(50) = 856 +/- 1 microM) with voltage-dependency. The effect was insensitive to 3 microM atropine. Tacrine (IC(50) =...

    journal_title:Neuroscience letters

    pub_type: 杂志文章

    doi:10.1016/s0304-3940(02)00620-1

    authors: Li Y,Hu GY

    更新日期:2002-08-30 00:00:00

  • Functional ectopic neural lobe increases GAP-43 expression via PI3K/AKT pathways to alleviate central diabetes insipidus after pituitary stalk lesion in rats.

    abstract::Central diabetes insipidus can occur after hypothalamic-hypophyseal tract injury. This injury is linked with a deficit in circulating vasopressin and oxytocin, which are produced in the supraoptic nuclei and the hypothalamic paraventricular nuclei. Previous studies indicate that an ectopic neural lobe forms after pitu...

    journal_title:Neuroscience letters

    pub_type: 杂志文章

    doi:10.1016/j.neulet.2018.02.038

    authors: Feng Z,Ou Y,Zhou M,Wu G,Ma L,Zhang Y,Liu Y,Qi S

    更新日期:2018-04-23 00:00:00

  • Ethanol induces rapid lipid peroxidation and activation of nuclear factor-kappa B in cerebral vascular smooth muscle: relation to alcohol-induced brain injury in rats.

    abstract::The present study was designed to test the hypothesis that acute administration of alcohol (ethanol) to primary cultured cerebral vascular smooth muscle cells will cause lipid peroxidation, inhibition of IkappaB phosphorylation, and inhibition of nuclear transcription factor-kappa B (NF-kappaB). Ethanol (10, 25, 100 m...

    journal_title:Neuroscience letters

    pub_type: 杂志文章

    doi:10.1016/s0304-3940(02)00264-1

    authors: Altura BM,Gebrewold A,Zhang A,Altura BT

    更新日期:2002-06-07 00:00:00

  • Effect of calcium on the histochemical distribution and intensity of biogenic amine-containing neurons in the mouse brain.

    abstract::The effect of calcium on the biogenic amine level and distribution in the mouse brain was investigated by a histochemical method using a microscopic photometer (Pl, Nikon). Histochemical fluorescence intensities in the corpus striatum and cortex cerebri regions were significantly increased by the intraventricular admi...

    journal_title:Neuroscience letters

    pub_type: 杂志文章

    doi:10.1016/0304-3940(86)90422-2

    authors: Sutoo D,Akiyama K

    更新日期:1986-08-15 00:00:00

  • Origin and postnatal development of nerves showing 5-hydroxytryptamine-like immunoreactivity supplying major cerebral arteries of the rat.

    abstract::Nerve plexuses showing 5-hydroxytryptamine (5-HT)-like immunoreactivity (5-HTLI) have been demonstrated in all the major cerebral arteries of the rat using fluorescence immunohistochemistry on whole-mount stretch preparations. Following bilateral superior cervical ganglionectomy, nerves disappeared from all the vessel...

    journal_title:Neuroscience letters

    pub_type: 杂志文章

    doi:10.1016/0304-3940(87)90619-7

    authors: Cowen T,Alafaci C,Crockard HA,Burnstock G

    更新日期:1987-07-22 00:00:00

  • Characterization of a neuronal interleukin-1 receptor and the corresponding mRNA in the mouse anterior pituitary cell line AtT-20.

    abstract::Interleukin-1 (IL-1) mediates numerous responses on the mouse anterior pituitary cell line AtT-20. We have studied the ligand binding properties of the IL-1 receptors (IL-1R) of the AtT-20 cells and found that they possess 1.5 x 10(3) receptors/cell with a Kd of 0.15 nM for [125I]IL-1 alpha. Using oligonucleotide prim...

    journal_title:Neuroscience letters

    pub_type: 杂志文章

    doi:10.1016/0304-3940(91)90254-q

    authors: Bristulf J,Simoncsits A,Bartfai T

    更新日期:1991-07-22 00:00:00