Abstract:
:Amyotrophic lateral sclerosis (ALS) is a degenerative disorder of motor neurons in the cortex, brainstem and spinal cord. Its cause is unknown and it is uniformly fatal, typically within five years. About 10% of cases are inherited as an autosomal dominant trait, with high penetrance after the sixth decade. In most instances, sporadic and autosomal dominant familial ALS (FALS) are clinically similar. We have previously shown that in some but not all FALS pedigrees the disease is linked to a genetic defect on chromosome 21q (refs 8, 9). Here we report tight genetic linkage between FALS and a gene that encodes a cytosolic, Cu/Zn-binding superoxide dismutase (SOD1), a homodimeric metalloenzyme that catalyzes the dismutation of the toxic superoxide anion O2.- to O2 and H2O2 (ref. 10). Given this linkage and the potential role of free radical toxicity in other neurodenegerative disorders, we investigated SOD1 as a candidate gene in FALS. We identified 11 different SOD1 missense mutations in 13 different FALS families.
journal_name
Naturejournal_title
Natureauthors
Rosen DR,Siddique T,Patterson D,Figlewicz DA,Sapp P,Hentati A,Donaldson D,Goto J,O'Regan JP,Deng HXdoi
10.1038/362059a0subject
Has Abstract,Author List Incompletepub_date
1993-03-04 00:00:00pages
59-62issue
6415eissn
0028-0836issn
1476-4687journal_volume
362pub_type
杂志文章相关文献
NATURE文献大全abstract::RecBCD enzyme is a processive DNA helicase and nuclease that participates in the repair of chromosomal DNA through homologous recombination. We have visualized directly the movement of individual RecBCD enzymes on single molecules of double-stranded DNA (dsDNA). Detection involves the optical trapping of solitary, flu...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/35053131
更新日期:2001-01-18 00:00:00
abstract::Myeloid precursors can be grown in vitro in the presence of specific growth factors; however, their expansion is limited by a competing process of terminal differentiation. Proto-oncogenes seem to be involved in cellular proliferation and/or differentiation and may also play a role in the myelopoietic process. Murine ...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/318667a0
更新日期:1985-12-19 00:00:00
abstract::Signal sequences target proteins for secretion from cells or for integration into cell membranes. As nascent proteins emerge from the ribosome, signal sequences are recognized by the signal recognition particle (SRP), which subsequently associates with its receptor (SR). In this complex, the SRP and SR stimulate each ...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature02250
更新日期:2004-01-15 00:00:00
abstract::Particle acceleration based on high intensity laser systems (a process known as laser-plasma acceleration) has achieved high quality particle beams that compare favourably with conventional acceleration techniques in terms of emittance, brightness and pulse duration. A long-term difficulty associated with laser-plasma...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature04492
更新日期:2006-01-26 00:00:00
abstract::This corrects the article DOI: 10.1038/nature22062. ...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature24276
更新日期:2017-10-26 00:00:00
abstract::Secreted signalling molecules of the Hedgehog (Hh) family have many essential patterning roles during development of diverse organisms including Drosophila and humans. Although Hedgehog proteins most commonly affect cell fate, they can also stimulate cell proliferation. In humans several distinctive cancers, including...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/35069099
更新日期:2001-03-29 00:00:00
abstract::An Amendment to this paper has been published and can be accessed via a link at the top of the paper. ...
journal_title:Nature
pub_type: 杂志文章,已发布勘误
doi:10.1038/s41586-019-1890-z
更新日期:2020-01-01 00:00:00
abstract::Data from a rocket experiment show details which were not known from ground-based observations. ...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/226526a0
更新日期:1970-05-09 00:00:00
abstract::A nuclear protein, CREB, has been isolated from rat brain and shown to stimulate transcription of the cyclic AMP-responsive gene somatostatin as a dimer. Biochemical analysis suggests that dimerization and transcriptional efficacy of CREB protein in vitro are regulated by phosphorylation. These findings demonstrate th...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/334494a0
更新日期:1988-08-11 00:00:00
abstract::The Southern Ocean houses a diverse and productive community of organisms. Unicellular eukaryotic diatoms are the main primary producers in this environment, where photosynthesis is limited by low concentrations of dissolved iron and large seasonal fluctuations in light, temperature and the extent of sea ice. How diat...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature20803
更新日期:2017-01-26 00:00:00
abstract::By means of in vivo selection, transcriptomic analysis, functional verification and clinical validation, here we identify a set of genes that marks and mediates breast cancer metastasis to the lungs. Some of these genes serve dual functions, providing growth advantages both in the primary tumour and in the lung microe...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature03799
更新日期:2005-07-28 00:00:00
abstract::The dispute among federal agencies over regulation of commercial biotechnology has been addressed in the Federal Register by the Office of Science and Technology Policy (OSTP), which says the Recombinant DNA Advisory Committee of the National Institutes of Health should continue to oversee biomedical research in this ...
journal_title:Nature
pub_type: 新闻
doi:10.1038/313085b0
更新日期:1985-01-10 00:00:00
abstract::BINDING of the TATA-binding protein (TBP) to the TATA box is required for transcription from many eukaryotic promoters in gene expression. Regulation of this binding is therefore likely to be an important determinant of promoter activity. Incorporation of the TATA sequence into nucleosomes dramatically reduces transcr...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/370481a0
更新日期:1994-08-11 00:00:00
abstract::The antigen receptors on mature B lymphocytes are membrane-bound immunoglobulins of the IgM and IgD classes whose cross-linking by polyvalent antigens results in B-cell proliferation and differentiation. How these membrane-bound immunoglobulin chains, which lack a cytoplasmic tail, generate a cell activation signal is...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/343760a0
更新日期:1990-02-22 00:00:00
abstract::Using a recently developed formalism called topological quantum chemistry, we perform a high-throughput search of 'high-quality' materials (for which the atomic positions and structure have been measured very accurately) in the Inorganic Crystal Structure Database in order to identify new topological phases. We develo...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/s41586-019-0954-4
更新日期:2019-02-01 00:00:00
abstract::Joining dissimilar materials such as plastics and metals in engineered structures remains a challenge1. Mechanical fastening, conventional welding and adhesive bonding are examples of techniques currently used for this purpose, but each of these methods presents its own set of problems2 such as formation of stress con...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/s41586-020-2813-8
更新日期:2020-10-01 00:00:00
abstract::Immune-challenged vertebrate females transfer specific antibodies to their offspring, but this gratuitous immunity cannot operate in invertebrates. Here we show that constitutive immune defence is enhanced in sexual offspring of the bumble-bee Bombus terrestris L. when the parental colony is immune-challenged. Our fin...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/35107138
更新日期:2001-11-29 00:00:00
abstract::The tumour microenvironment may contribute to tumorigenesis owing to mechanical forces such as fibrotic stiffness or mechanical pressure caused by the expansion of hyper-proliferative cells. Here we explore the contribution of the mechanical pressure exerted by tumour growth onto non-tumorous adjacent epithelium. In t...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature14329
更新日期:2015-07-02 00:00:00
abstract::After an earthquake, numerous smaller shocks are triggered over distances comparable to the dimensions of the mainshock fault rupture, although they are rare at larger distances. Here we analyse the scaling of dynamic deformations (the stresses and strains associated with seismic waves) with distance from, and magnitu...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/437830a
更新日期:2005-10-06 00:00:00
abstract::Wrists, ankles and digits distinguish tetrapod limbs from fins, but direct evidence on the origin of these features has been unavailable. Here we describe the pectoral appendage of a member of the sister group of tetrapods, Tiktaalik roseae, which is morphologically and functionally transitional between a fin and a li...
journal_title:Nature
pub_type: 历史文章,杂志文章
doi:10.1038/nature04637
更新日期:2006-04-06 00:00:00
abstract::The upper temperature at which a living system can exist is limited by the hydrolytic breakdown rate of its chemical constituents. The peptide bonds of proteins, the phosphodiester and N-glycosyl bonds in RNA and DNA, and the pyrophosphate and N-glycosyl bonds in nucleotides such as ATP and NAD are among the more impo...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/310430a0
更新日期:1984-08-02 00:00:00
abstract::The mevalonate pathway produces isoprenoids that are vital for diverse cellular functions, ranging from cholesterol synthesis to growth control. Several mechanisms for feedback regulation of low-density-lipoprotein receptors and of two enzymes involved in mevalonate biosynthesis ensure the production of sufficient mev...
journal_title:Nature
pub_type: 杂志文章,评审
doi:10.1038/343425a0
更新日期:1990-02-01 00:00:00
abstract::Combined analyses of gene networks and DNA sequence variation can provide new insights into the aetiology of common diseases that may not be apparent from genome-wide association studies alone. Recent advances in rat genomics are facilitating systems-genetics approaches. Here we report the use of integrated genome-wid...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature09386
更新日期:2010-09-23 00:00:00
abstract::From drug delivery to chemical and biological catalysis and cosmetics, the need for efficient fabrication pathways for particles over a wide range of sizes, from a variety of materials, and in many different structures has been well established. Here we harness the inherent scalability of fibre production and an in-fi...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature11215
更新日期:2012-07-26 00:00:00
abstract::Growth factors such as platelet-derived growth factor (PDGF) elicit the transcriptional activation of a large number of immediate early genes (many of which encode transcription factors), and ultimately DNA synthesis. Both AP1 and Myc are activated in fibroblasts in response to growth factor stimulation, and various e...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/378509a0
更新日期:1995-11-30 00:00:00
abstract::There have been many reports that eukaryotic cells contain ring-shaped 19S or 20S particles which are composed of numerous polypeptide subunits ranging in size between 25 and 35 kilodaltons. Because these particles seemed to copurify with inactive mRNA, they were assumed to function in regulating mRNA translation and ...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/331192a0
更新日期:1988-01-14 00:00:00
abstract::A hybrid gene was constructed between the beta-lactamase gene of plasmid pBR322 and the cloned coding sequence for rat growth hormone. This gene is expressed in bacteria and growth hormone sequences are detectable by immunological methods. ...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/276795a0
更新日期:1978-12-21 00:00:00
abstract::Lyman-alpha emitters are thought to be young, low-mass galaxies with ages of approximately 10(8) yr (refs 1, 2). An overdensity of them in one region of the sky (the SSA 22 field) traces out a filamentary structure in the early Universe at a redshift of z approximately 3.1 (equivalent to 15 per cent of the age of the ...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/nature07947
更新日期:2009-05-07 00:00:00
abstract::Marine records of sediment oxygen isotope compositions show that the Earth's climate has gone through a succession of glacial and interglacial periods during the past million years. But the interpretation of the oxygen isotope records is complicated because both isotope storage in ice sheets and deep-water temperature...
journal_title:Nature
pub_type: 历史文章,杂志文章
doi:10.1038/nature03975
更新日期:2005-09-01 00:00:00
abstract::As countries in Europe gradually relaxed lockdown restrictions after the first wave, test-trace-isolate strategies became critical to maintain the incidence of coronavirus disease 2019 (COVID-19) at low levels1,2. Reviewing their shortcomings can provide elements to consider in light of the second wave that is current...
journal_title:Nature
pub_type: 杂志文章
doi:10.1038/s41586-020-03095-6
更新日期:2020-12-21 00:00:00