当前位置： SCI文献检索 > NATURE期刊下所有文献 > The genetic defect in familial Alzheimer's disease is not tightly linked to the amyloid beta-protein gene.

The genetic defect in familial Alzheimer's disease is not tightly linked to the amyloid beta-protein gene.

Abstract：

:Amyloid beta-protein (AP) is a peptide of relative molecular mass (Mr) 42,000 found in the senile plaques, cerebrovascular amyloid deposits, and neurofibrillary tangles of patients with Alzheimer's disease and Down's syndrome (trisomy 21). Recent molecular genetic evidence has indicated that AP is encoded as part of a larger protein by a gene on chromosome 21 (refs 5-7). The defect in the inherited autosomal dominant form of Alzheimer's disease, familial Alzheimer's disease (FAD), has been mapped to the same approximate region of chromosome 21 by genetic linkage to anonymous DNA markers, raising the possibility that this gene product, which could be important in the pathogenesis of Alzheimer's disease, is also the site of the inherited defect in FAD (ref. 5). We have determined the pattern of segregation of the AP gene in FAD pedigrees using restriction fragment length polymorphisms. The detection of several recombination events with FAD suggests that the AP gene is not the site of the inherited defect underlying this disorder.

journal_name

Nature

journal_title

Nature

authors

Tanzi RE,St George-Hyslop PH,Haines JL,Polinsky RJ,Nee L,Foncin JF,Neve RL,McClatchey AI,Conneally PM,Gusella JF

doi

10.1038/329156a0

subject

Has Abstract

pub_date

1987-09-10 00:00:00

pages

156-7

issue

6135

eissn

0028-0836

issn

1476-4687

journal_volume

329

pub_type

杂志文章

相关文献

NATURE文献大全
  • Dissemination, divergence and establishment of H7N9 influenza viruses in China.

    abstract：:Since 2013 the occurrence of human infections by a novel avian H7N9 influenza virus in China has demonstrated the continuing threat posed by zoonotic pathogens. Although the first outbreak wave that was centred on eastern China was seemingly averted, human infections recurred in October 2013 (refs 3-7). It is unclear ...

    journal_title：Nature

    pub_type： 杂志文章

    doi：10.1038/nature14348

    authors： Lam TT,Zhou B,Wang J,Chai Y,Shen Y,Chen X,Ma C,Hong W,Chen Y,Zhang Y,Duan L,Chen P,Jiang J,Zhang Y,Li L,Poon LL,Webby RJ,Smith DK,Leung GM,Peiris JS,Holmes EC,Guan Y,Zhu H

    更新日期：2015-06-04 00:00:00

  • Metformin suppresses gluconeogenesis by inhibiting mitochondrial glycerophosphate dehydrogenase.

    abstract：:Metformin is considered to be one of the most effective therapeutics for treating type 2 diabetes because it specifically reduces hepatic gluconeogenesis without increasing insulin secretion, inducing weight gain or posing a risk of hypoglycaemia. For over half a century, this agent has been prescribed to patients wit...

    journal_title：Nature

    pub_type： 杂志文章

    doi：10.1038/nature13270

    authors： Madiraju AK,Erion DM,Rahimi Y,Zhang XM,Braddock DT,Albright RA,Prigaro BJ,Wood JL,Bhanot S,MacDonald MJ,Jurczak MJ,Camporez JP,Lee HY,Cline GW,Samuel VT,Kibbey RG,Shulman GI

    更新日期：2014-06-26 00:00:00

  • Glutamate induces de novo growth of functional spines in developing cortex.

    abstract：:Mature cortical pyramidal neurons receive excitatory inputs onto small protrusions emanating from their dendrites called spines. Spines undergo activity-dependent remodelling, stabilization and pruning during development, and similar structural changes can be triggered by learning and changes in sensory experiences. H...

    journal_title：Nature

    pub_type： 杂志文章

    doi：10.1038/nature09986

    authors： Kwon HB,Sabatini BL

    更新日期：2011-06-02 00:00:00

  • Imaging of Titan from the Cassini spacecraft.

    abstract：:Titan, the largest moon of Saturn, is the only satellite in the Solar System with a substantial atmosphere. The atmosphere is poorly understood and obscures the surface, leading to intense speculation about Titan's nature. Here we present observations of Titan from the imaging science experiment onboard the Cassini sp...

    journal_title：Nature

    pub_type： 杂志文章

    doi：10.1038/nature03436

    authors： Porco CC,Baker E,Barbara J,Beurle K,Brahic A,Burns JA,Charnoz S,Cooper N,Dawson DD,Del Genio AD,Denk T,Dones L,Dyudina U,Evans MW,Fussner S,Giese B,Grazier K,Helfenstein P,Ingersoll AP,Jacobson RA,Johnson TV,McE

    更新日期：2005-03-10 00:00:00

  • Kruppel-like factor 2 regulates thymocyte and T-cell migration.

    abstract：:Mammalian Kruppel-like transcription factors are implicated in regulating terminal differentiation of several tissue types. Deficiency in Kruppel-like factor (KLF) 2 (also known as LKLF) leads to a massive loss of the peripheral T-cell pool, suggesting KLF2 regulates T-cell quiescence and survival. Here we show, howev...

    journal_title：Nature

    pub_type： 杂志文章

    doi：10.1038/nature04882

    authors： Carlson CM,Endrizzi BT,Wu J,Ding X,Weinreich MA,Walsh ER,Wani MA,Lingrel JB,Hogquist KA,Jameson SC

    更新日期：2006-07-20 00:00:00

  • Human metabolic phenotype diversity and its association with diet and blood pressure.

    abstract：:Metabolic phenotypes are the products of interactions among a variety of factors-dietary, other lifestyle/environmental, gut microbial and genetic. We use a large-scale exploratory analytical approach to investigate metabolic phenotype variation across and within four human populations, based on 1H NMR spectroscopy. M...

    journal_title：Nature

    pub_type： 杂志文章

    doi：10.1038/nature06882

    authors： Holmes E,Loo RL,Stamler J,Bictash M,Yap IK,Chan Q,Ebbels T,De Iorio M,Brown IJ,Veselkov KA,Daviglus ML,Kesteloot H,Ueshima H,Zhao L,Nicholson JK,Elliott P

    更新日期：2008-05-15 00:00:00

  • Whales originated from aquatic artiodactyls in the Eocene epoch of India.

    abstract：:Although the first ten million years of whale evolution are documented by a remarkable series of fossil skeletons, the link to the ancestor of cetaceans has been missing. It was known that whales are related to even-toed ungulates (artiodactyls), but until now no artiodactyls were morphologically close to early whales...

    journal_title：Nature

    pub_type： 杂志文章

    doi：10.1038/nature06343

    authors： Thewissen JG,Cooper LN,Clementz MT,Bajpai S,Tiwari BN

    更新日期：2007-12-20 00:00:00

  • Adaptive filtering enhances information transmission in visual cortex.

    abstract：:Sensory neuroscience seeks to understand how the brain encodes natural environments. However, neural coding has largely been studied using simplified stimuli. In order to assess whether the brain's coding strategy depends on the stimulus ensemble, we apply a new information-theoretic method that allows unbiased calcul...

    journal_title：Nature

    pub_type： 杂志文章

    doi：10.1038/nature04519

    authors： Sharpee TO,Sugihara H,Kurgansky AV,Rebrik SP,Stryker MP,Miller KD

    更新日期：2006-02-23 00:00:00

  • Female mating bias results in conflicting sex-specific offspring fitness.

    abstract：:Indirect-benefit models of sexual selection assert that females gain heritable offspring advantages through a mating bias for males of superior genetic quality. This has generally been tested by associating a simple morphological quality indicator (for example, bird tail length) with offspring viability. However, sele...

    journal_title：Nature

    pub_type： 杂志文章

    doi：10.1038/nature02492

    authors： Fedorka KM,Mousseau TA

    更新日期：2004-05-06 00:00:00

  • Expression of the c-fms proto-oncogene during human monocytic differentiation.

    abstract：:The McDonough strain of the feline sarcoma virus contains a transforming gene (v-fms) which contains partial nucleotide homology with proto-oncogenes encoding tyrosine kinases. One of the v-fms-encoded products, gp140fms, is a cell surface transmembrane glycoprotein that may function as a growth factor receptor. Altho...

    journal_title：Nature

    pub_type： 杂志文章

    doi：10.1038/316064a0

    authors： Sariban E,Mitchell T,Kufe D

    更新日期：1985-07-04 00:00:00

  • Tunable long-distance spin transport in a crystalline antiferromagnetic iron oxide.

    abstract：:Spintronics relies on the transport of spins, the intrinsic angular momentum of electrons, as an alternative to the transport of electron charge as in conventional electronics. The long-term goal of spintronics research is to develop spin-based, low-dissipation computing-technology devices. Recently, long-distance tra...

    journal_title：Nature

    pub_type： 杂志文章

    doi：10.1038/s41586-018-0490-7

    authors： Lebrun R,Ross A,Bender SA,Qaiumzadeh A,Baldrati L,Cramer J,Brataas A,Duine RA,Kläui M

    更新日期：2018-09-01 00:00:00

  • Closing yield gaps through nutrient and water management.

    abstract：:In the coming decades, a crucial challenge for humanity will be meeting future food demands without undermining further the integrity of the Earth's environmental systems. Agricultural systems are already major forces of global environmental degradation, but population growth and increasing consumption of calorie- and...

    journal_title：Nature

    pub_type： 杂志文章

    doi：10.1038/nature11420

    authors： Mueller ND,Gerber JS,Johnston M,Ray DK,Ramankutty N,Foley JA

    更新日期：2012-10-11 00:00:00

  • Evolutionary genomics: codon bias and selection on single genomes.

    abstract：:The idea that natural selection on genes might be detected using only a single genome has been put forward by Plotkin and colleagues, who present a method that they claim can detect selection without the need for comparative data and which, if correct, would confer greater power of analysis with less information. Here...

    journal_title：Nature

    pub_type： 评论,杂志文章

    doi：10.1038/nature03221

    authors： Hahn MW,Mezey JG,Begun DJ,Gillespie JH,Kern AD,Langley CH,Moyle LC

    更新日期：2005-01-20 00:00:00

  • Two dynamically distinct circuits drive inhibition in the sensory thalamus.

    abstract：:Most sensory information destined for the neocortex is relayed through the thalamus, where considerable transformation occurs1,2. One means of transformation involves interactions between excitatory thalamocortical neurons that carry data to the cortex and inhibitory neurons of the thalamic reticular nucleus (TRN) tha...

    journal_title：Nature

    pub_type： 杂志文章

    doi：10.1038/s41586-020-2512-5

    authors： Martinez-Garcia RI,Voelcker B,Zaltsman JB,Patrick SL,Stevens TR,Connors BW,Cruikshank SJ

    更新日期：2020-07-01 00:00:00

  • Study of allosteric communication between protomers by immunotagging.

    abstract：:Ligand-induced allosteric changes in proteins are important in their cellular functions and regulation, and both concerted and sequential examples are known. The distinction has entailed elaborate analysis, however, and only a few systems have been unequivocally analysed. We have investigated the coupling between ATP ...

    journal_title：Nature

    pub_type： 杂志文章

    doi：10.1038/361749a0

    authors： Lindsley JE,Wang JC

    更新日期：1993-02-25 00:00:00

  • Gelation of particles with short-range attraction.

    abstract：:Nanoscale or colloidal particles are important in many realms of science and technology. They can dramatically change the properties of materials, imparting solid-like behaviour to a wide variety of complex fluids. This behaviour arises when particles aggregate to form mesoscopic clusters and networks. The essential c...

    journal_title：Nature

    pub_type： 杂志文章

    doi：10.1038/nature06931

    authors： Lu PJ,Zaccarelli E,Ciulla F,Schofield AB,Sciortino F,Weitz DA

    更新日期：2008-05-22 00:00:00

  • Genes required for GABA function in Caenorhabditis elegans.

    abstract：:gamma-Aminobutyric acid (GABA) neurotransmission is widespread in vertebrate and invertebrate nervous systems. Here we use a genetic approach to identify molecules specific to GABA function. On the basis of the known in vivo roles of GABAergic neurons in controlling behaviour of the nematode Caenorhabditis elegans, we...

    journal_title：Nature

    pub_type： 杂志文章

    doi：10.1038/364334a0

    authors： McIntire SL,Jorgensen E,Horvitz HR

    更新日期：1993-07-22 00:00:00

  • Helical self-assembled polymers from cooperative stacking of hydrogen-bonded pairs.

    abstract：:The double helix of DNA epitomizes this molecule's ability to self-assemble in aqueous solutions into a complex chiral structure using hydrogen bonding and hydrophobic interactions. Non-covalently interacting molecules in organic solvents are used to design systems that similarly form controlled architectures. Periphe...

    journal_title：Nature

    pub_type： 杂志文章

    doi：10.1038/35025027

    authors： Hirschberg JH,Brunsveld L,Ramzi A,Vekemans JA,Sijbesma RP,Meijer EW

    更新日期：2000-09-14 00:00:00

  • Identification of a distinct synaptic glutamate receptor on horizontal cells in mudpuppy retina.

    abstract：:The separation of ON and OFF channels and the development of an antagonistic surround occur at the first synapse in the vertebrate retina. This functional differentiation is mediated by the action of the photoreceptor neurotransmitter on the ON bipolar, OFF bipolar and horizontal cells, respectively. Glutamate mimics ...

    journal_title：Nature

    pub_type： 杂志文章

    doi：10.1038/314096a0

    authors： Slaughter MM,Miller RF

    更新日期：1985-03-07 00:00:00

  • How broken sleep promotes cardiovascular disease.

    abstract：: ...

    journal_title：Nature

    pub_type： 评论,新闻

    doi：10.1038/d41586-019-00393-6

    authors： Tall AR,Jelic S

    更新日期：2019-02-01 00:00:00

  • Polyglutamine tracts regulate beclin 1-dependent autophagy.

    abstract：:Nine neurodegenerative diseases are caused by expanded polyglutamine (polyQ) tracts in different proteins, such as huntingtin in Huntington's disease and ataxin 3 in spinocerebellar ataxia type 3 (SCA3). Age at onset of disease decreases with increasing polyglutamine length in these proteins and the normal length also...

    journal_title：Nature

    pub_type： 杂志文章

    doi：10.1038/nature22078

    authors： Ashkenazi A,Bento CF,Ricketts T,Vicinanza M,Siddiqi F,Pavel M,Squitieri F,Hardenberg MC,Imarisio S,Menzies FM,Rubinsztein DC

    更新日期：2017-05-04 00:00:00

  • New variation on the translocation of proteins during early biogenesis of apolipoprotein B.

    abstract：:Apolipoprotein B (apo B) is crucial for the transport of cholesterol in humans. It is a large secretory protein that mediates the uptake of low-density lipoproteins and renders several forms of lipid droplets soluble in the blood. The binding of lipid by apo B also prevents this hydrophobic protein from precipitating ...

    journal_title：Nature

    pub_type： 杂志文章

    doi：10.1038/346382a0

    authors： Chuck SL,Yao Z,Blackhart BD,McCarthy BJ,Lingappa VR

    更新日期：1990-07-26 00:00:00

  • Meiotic chromosome structures constrain and respond to designation of crossover sites.

    abstract：:Crossover recombination events between homologous chromosomes are required to form chiasmata, temporary connections between homologues that ensure their proper segregation at meiosis I. Despite this requirement for crossovers and an excess of the double-strand DNA breaks that are the initiating events for meiotic reco...

    journal_title：Nature

    pub_type： 杂志文章

    doi：10.1038/nature12577

    authors： Libuda DE,Uzawa S,Meyer BJ,Villeneuve AM

    更新日期：2013-10-31 00:00:00

  • 53BP1 cooperation with the REV7-shieldin complex underpins DNA structure-specific NHEJ.

    abstract：:53BP1 governs a specialized, context-specific branch of the classical non-homologous end joining DNA double-strand break repair pathway. Mice lacking 53bp1 (also known as Trp53bp1) are immunodeficient owing to a complete loss of immunoglobulin class-switch recombination1,2, and reduced fidelity of long-range V(D)J rec...

    journal_title：Nature

    pub_type： 杂志文章

    doi：10.1038/s41586-018-0362-1

    authors： Ghezraoui H,Oliveira C,Becker JR,Bilham K,Moralli D,Anzilotti C,Fischer R,Deobagkar-Lele M,Sanchiz-Calvo M,Fueyo-Marcos E,Bonham S,Kessler BM,Rottenberg S,Cornall RJ,Green CM,Chapman JR

    更新日期：2018-08-01 00:00:00

  • Neurotransmitter/sodium symporter orthologue LeuT has a single high-affinity substrate site.

    abstract：:Neurotransmitter/sodium symporters (NSSs) couple the uptake of neurotransmitter with one or more sodium ions, removing neurotransmitter from the synaptic cleft. NSSs are essential to the function of chemical synapses, are associated with multiple neurological diseases and disorders, and are the targets of therapeutic ...

    journal_title：Nature

    pub_type： 杂志文章

    doi：10.1038/nature09581

    authors： Piscitelli CL,Krishnamurthy H,Gouaux E

    更新日期：2010-12-23 00:00:00

  • Ultraviolet emissions from the magnetic footprints of Io, Ganymede and Europa on Jupiter.

    abstract：:Io leaves a magnetic footprint on Jupiter's upper atmosphere that appears as a spot of ultraviolet emission that remains fixed underneath Io as Jupiter rotates. The specific physical mechanisms responsible for generating those emissions are not well understood, but in general the spot seems to arise because of an elec...

    journal_title：Nature

    pub_type： 杂志文章

    doi：10.1038/415997a

    authors： Clarke JT,Ajello J,Ballester G,Ben Jaffel L,Connerney J,Gérard JC,Gladstone GR,Grodent D,Pryor W,Trauger J,Waite JH Jr

    更新日期：2002-02-28 00:00:00

  • Extreme damping in composite materials with negative-stiffness inclusions.

    abstract：:When a force deforms an elastic object, practical experience suggests that the resulting displacement will be in the same direction as the force. This property is known as positive stiffness. Less familiar is the concept of negative stiffness, where the deforming force and the resulting displacement are in opposite di...

    journal_title：Nature

    pub_type： 杂志文章

    doi：10.1038/35069035

    authors： Lakes RS,Lee T,Bersie A,Wang YC

    更新日期：2001-03-29 00:00:00

  • Recapitulation of premature ageing with iPSCs from Hutchinson-Gilford progeria syndrome.

    abstract：:Hutchinson-Gilford progeria syndrome (HGPS) is a rare and fatal human premature ageing disease, characterized by premature arteriosclerosis and degeneration of vascular smooth muscle cells (SMCs). HGPS is caused by a single point mutation in the lamin A (LMNA) gene, resulting in the generation of progerin, a truncated...

    journal_title：Nature

    pub_type： 杂志文章

    doi：10.1038/nature09879

    authors： Liu GH,Barkho BZ,Ruiz S,Diep D,Qu J,Yang SL,Panopoulos AD,Suzuki K,Kurian L,Walsh C,Thompson J,Boue S,Fung HL,Sancho-Martinez I,Zhang K,Yates J 3rd,Izpisua Belmonte JC

    更新日期：2011-04-14 00:00:00

  • Revealing the world of RNA interference.

    abstract：:The recent discoveries of RNA interference and related RNA silencing pathways have revolutionized our understanding of gene regulation. RNA interference has been used as a research tool to control the expression of specific genes in numerous experimental organisms and has potential as a therapeutic strategy to reduce ...

    journal_title：Nature

    pub_type： 杂志文章,评审

    doi：10.1038/nature02872

    authors： Mello CC,Conte D Jr

    更新日期：2004-09-16 00:00:00

  • Two distinct modes of guidance signalling during collective migration of border cells.

    abstract：:Although directed migration is a feature of both individual cells and cell groups, guided migration has been studied most extensively for single cells in simple environments. Collective guidance of cell groups remains poorly understood, despite its relevance for development and metastasis. Neural crest cells and neuro...

    journal_title：Nature

    pub_type： 杂志文章

    doi：10.1038/nature05965

    authors： Bianco A,Poukkula M,Cliffe A,Mathieu J,Luque CM,Fulga TA,Rørth P

    更新日期：2007-07-19 00:00:00