Progeria: a paradigm for translational medicine.

Abstract:

:Rare diseases are powerful windows into biological processes and can serve as models for the development of therapeutic strategies. The progress made on the premature aging disorder Progeria is a shining example of the impact that studies of rare diseases can have.

journal_name

Cell

journal_title

Cell

authors

Gordon LB,Rothman FG,López-Otín C,Misteli T

doi

10.1016/j.cell.2013.12.028

subject

Has Abstract

pub_date

2014-01-30 00:00:00

pages

400-7

issue

3

eissn

0092-8674

issn

1097-4172

pii

S0092-8674(13)01597-3

journal_volume

156

pub_type

杂志文章

相关文献

CELL文献大全
  • Tumor Evolution: A Problem of Histocompatibility.

    abstract::In this issue of Cell, two articles show that tumor-specific changes in HLA-mediated antigen presentation affect tumor immunogenicity and may play a role in shaping cancer cell survival. ...

    journal_title:Cell

    pub_type: 评论,杂志文章

    doi:10.1016/j.cell.2017.11.012

    authors: Vokes NI,Van Allen EM

    更新日期:2017-11-30 00:00:00

  • An RNA polymerase II transcription factor binds to an upstream element in the adenovirus major late promoter.

    abstract::A gel electrophoresis DNA binding assay has been used to identify proteins in HeLa cell extracts that specifically bind to the major late promoter of adenovirus. A major late promoter transcription factor MLTF has been detected as a discrete protein-DNA complex. MLTF binds specifically and with high affinity to sequen...

    journal_title:Cell

    pub_type: 杂志文章

    doi:10.1016/0092-8674(85)90174-6

    authors: Carthew RW,Chodosh LA,Sharp PA

    更新日期:1985-12-01 00:00:00

  • The kinky propulsion of Spiroplasma.

    abstract::Bacteria have evolved many different means of generating movement. In this issue of Cell, Shaevitz et al. (2005) describe the swimming movement of a helical bacterium called Spiroplasma. They discover that Spiroplasma propels itself by generating two temporally distinct kinks that travel the length of the bacterium. T...

    journal_title:Cell

    pub_type: 评论,杂志文章,评审

    doi:10.1016/j.cell.2005.09.003

    authors: Wolgemuth CW,Charon NW

    更新日期:2005-09-23 00:00:00

  • Membrane hemifusion: crossing a chasm in two leaps.

    abstract::During membrane fusion, the outer leaflets of the two membranes merge first, whereas the distal membrane leaflets remain separate until the opening of a fusion pore. This intermediate stage, called hemifusion, is a critical event shared by exocytosis, protein trafficking, and viral entry. ...

    journal_title:Cell

    pub_type: 杂志文章,评审

    doi:10.1016/j.cell.2005.10.015

    authors: Chernomordik LV,Kozlov MM

    更新日期:2005-11-04 00:00:00

  • Macrophage plasminogen activator: induction by concanavalin A and phorbol myristate acetate.

    abstract::The synthesis and secretion of plasminogen activator by cultured macrophages can be induced and stimulated by concanavalin A and by phorbol myristate acetate, and inhibited by such agents as glucocorticoids, mitotic inhibitors and compounds affecting cAMP metabolism. By the manipulation of stimulatory and inhibitory i...

    journal_title:Cell

    pub_type: 杂志文章

    doi:10.1016/0092-8674(77)90086-1

    authors: Vassalli JD,Hamilton J,Reich E

    更新日期:1977-07-01 00:00:00

  • FoxOs are critical mediators of hematopoietic stem cell resistance to physiologic oxidative stress.

    abstract::To understand the role of FoxO family members in hematopoiesis, we conditionally deleted FoxO1, FoxO3, and FoxO4 in the adult hematopoietic system. FoxO-deficient mice exhibited myeloid lineage expansion, lymphoid developmental abnormalities, and a marked decrease of the lineage-negative Sca-1+, c-Kit+ (LSK) compartme...

    journal_title:Cell

    pub_type: 杂志文章

    doi:10.1016/j.cell.2007.01.003

    authors: Tothova Z,Kollipara R,Huntly BJ,Lee BH,Castrillon DH,Cullen DE,McDowell EP,Lazo-Kallanian S,Williams IR,Sears C,Armstrong SA,Passegué E,DePinho RA,Gilliland DG

    更新日期:2007-01-26 00:00:00

  • Specific and saturable binding of pp60v-src to plasma membranes: evidence for a myristyl-src receptor.

    abstract::The molecular basis for membrane association of pp60v-src, the transforming protein of Rous sarcoma virus, was investigated in a cell-free system. Newly synthesized pp60v-src polypeptide, produced by in vitro translation of src mRNA, rapidly bound to plasma membranes. Binding was saturable and dependent on the presenc...

    journal_title:Cell

    pub_type: 杂志文章

    doi:10.1016/0092-8674(89)90842-8

    authors: Resh MD

    更新日期:1989-07-28 00:00:00

  • Evolutionary divergence of enzymatic mechanisms for posttranslational polyglycylation.

    abstract::Polyglycylation is a posttranslational modification that generates glycine side chains on proteins. Here we identify a family of evolutionarily conserved glycine ligases that modify tubulin using different enzymatic mechanisms. In mammals, two distinct enzyme types catalyze the initiation and elongation steps of polyg...

    journal_title:Cell

    pub_type: 杂志文章

    doi:10.1016/j.cell.2009.05.020

    authors: Rogowski K,Juge F,van Dijk J,Wloga D,Strub JM,Levilliers N,Thomas D,Bré MH,Van Dorsselaer A,Gaertig J,Janke C

    更新日期:2009-06-12 00:00:00

  • The human telomere terminal transferase enzyme is a ribonucleoprotein that synthesizes TTAGGG repeats.

    abstract::I have identified an activity in crude HeLa cell extracts that satisfies the requirements for a human telomere terminal transferase or telomerase. It catalyzes the addition of a 6 nucleotide repeating pattern to oligonucleotide primers containing human or nonhuman telomeric repeat sequences. Direct sequence analyses o...

    journal_title:Cell

    pub_type: 杂志文章

    doi:10.1016/0092-8674(89)90035-4

    authors: Morin GB

    更新日期:1989-11-03 00:00:00

  • Mechanobiology of Protein Droplets: Force Arises from Disorder.

    abstract::The use of optogenetic approaches has revealed new roles for intracellular protein condensates described in two papers in this issue of Cell (Bracha et. al., 2018; Shin et al., 2018). These results show that growing condensates are able to exert mechanical forces resulting in chromatin rearrangement, establishing a ne...

    journal_title:Cell

    pub_type: 评论,杂志文章

    doi:10.1016/j.cell.2018.11.020

    authors: Welsh TJ,Shen Y,Levin A,Knowles TPJ

    更新日期:2018-11-29 00:00:00

  • Identification of mouse sperm SED1, a bimotif EGF repeat and discoidin-domain protein involved in sperm-egg binding.

    abstract::We report the identification of SED1, a protein required for mouse sperm binding to the egg zona pellucida. SED1 is homologous to a small group of secreted cell-matrix adhesive proteins that contain Notch-like EGF repeats and discoidin/F5/8 type C domains. SED1 is expressed in spermatogenic cells and is secreted by th...

    journal_title:Cell

    pub_type: 杂志文章

    doi:10.1016/s0092-8674(03)00643-3

    authors: Ensslin MA,Shur BD

    更新日期:2003-08-22 00:00:00

  • A noncanonical Frizzled2 pathway regulates epithelial-mesenchymal transition and metastasis.

    abstract::Wnt signaling plays a critical role in embryonic development, and genetic aberrations in this network have been broadly implicated in colorectal cancer. We find that the Wnt receptor Frizzled2 (Fzd2) and its ligands Wnt5a/b are elevated in metastatic liver, lung, colon, and breast cancer cell lines and in high-grade t...

    journal_title:Cell

    pub_type: 杂志文章

    doi:10.1016/j.cell.2014.10.032

    authors: Gujral TS,Chan M,Peshkin L,Sorger PK,Kirschner MW,MacBeath G

    更新日期:2014-11-06 00:00:00

  • Crystal structure of a UBP-family deubiquitinating enzyme in isolation and in complex with ubiquitin aldehyde.

    abstract::The ubiquitin-specific processing protease (UBP) family of deubiquitinating enzymes plays an essential role in numerous cellular processes. HAUSP, a representative UBP, specifically deubiquitinates and hence stabilizes the tumor suppressor protein p53. Here, we report the crystal structures of the 40 kDa catalytic cor...

    journal_title:Cell

    pub_type: 杂志文章

    doi:10.1016/s0092-8674(02)01199-6

    authors: Hu M,Li P,Li M,Li W,Yao T,Wu JW,Gu W,Cohen RE,Shi Y

    更新日期:2002-12-27 00:00:00

  • Mapping of DNAase I sensitive regions on mitotic chromosomes.

    abstract::We have shown that in fixed mitotic chromosomes from female G. gerbillus cells the inactive X chromosome is distinctly less sensitive to DNAase I than the active X chromosome, as demonstrated by in situ nick translation. These results indicated that the specific chromatin conformation that renders potentially active g...

    journal_title:Cell

    pub_type: 杂志文章

    doi:10.1016/0092-8674(84)90504-x

    authors: Kerem BS,Goitein R,Diamond G,Cedar H,Marcus M

    更新日期:1984-09-01 00:00:00

  • Stem cells on patrol.

    abstract::Hematopoietic stem cells (HSCs) exist in the bone marrow and circulate in the blood. In this issue, Massberg et al. (2007) report that HSCs also travel through the lymphatic system. Furthermore, migration of HSCs--which express Toll-like receptors--allows the recognition of pathogenic molecules in peripheral tissues t...

    journal_title:Cell

    pub_type: 评论,杂志文章

    doi:10.1016/j.cell.2007.11.010

    authors: Welner RS,Kincade PW

    更新日期:2007-11-30 00:00:00

  • The Identity of Human Tissue-Emigrant CD8+ T Cells.

    abstract::Lymphocyte migration is essential for adaptive immune surveillance. However, our current understanding of this process is rudimentary, because most human studies have been restricted to immunological analyses of blood and various tissues. To address this knowledge gap, we used an integrated approach to characterize ti...

    journal_title:Cell

    pub_type: 杂志文章

    doi:10.1016/j.cell.2020.11.019

    authors: Buggert M,Vella LA,Nguyen S,Wu VH,Chen Z,Sekine T,Perez-Potti A,Maldini CR,Manne S,Darko S,Ransier A,Kuri-Cervantes L,Japp AS,Brody IB,Ivarsson MA,Gorin JB,Rivera-Ballesteros O,Hertwig L,Antel JP,Johnson ME,Okoye

    更新日期:2020-12-23 00:00:00

  • Identification of MOAG-4/SERF as a regulator of age-related proteotoxicity.

    abstract::Fibrillar protein aggregates are the major pathological hallmark of several incurable, age-related, neurodegenerative disorders. These aggregates typically contain aggregation-prone pathogenic proteins, such as amyloid-beta in Alzheimer's disease and alpha-synuclein in Parkinson's disease. It is, however, poorly under...

    journal_title:Cell

    pub_type: 杂志文章

    doi:10.1016/j.cell.2010.07.020

    authors: van Ham TJ,Holmberg MA,van der Goot AT,Teuling E,Garcia-Arencibia M,Kim HE,Du D,Thijssen KL,Wiersma M,Burggraaff R,van Bergeijk P,van Rheenen J,Jerre van Veluw G,Hofstra RM,Rubinsztein DC,Nollen EA

    更新日期:2010-08-20 00:00:00

  • A new role for a yeast transcriptional silencer gene, SIR2, in regulation of recombination in ribosomal DNA.

    abstract::The yeast SIR2 gene is involved in regulating nucleosome phasing and transcription in the mating type system. We have found that SIR2 also plays another important role in the cell. Specifically, in wild-type SIR2 strains recombination between the tandemly repeated ribosomal RNA genes is depressed. In sir2 mutants, bot...

    journal_title:Cell

    pub_type: 杂志文章

    doi:10.1016/0092-8674(89)90681-8

    authors: Gottlieb S,Esposito RE

    更新日期:1989-03-10 00:00:00

  • A Drosophila model for xeroderma pigmentosum and Cockayne's syndrome: haywire encodes the fly homolog of ERCC3, a human excision repair gene.

    abstract::The haywire gene of Drosophila encodes a protein with 66% identity to the product of the human ERCC3 gene, associated with xeroderma pigmentosum B (XP-B) and Cockayne's syndrome (CS). XP is a human autosomal recessive disease characterized by extreme sensitivity to ultraviolet irradiation and marked susceptibility to ...

    journal_title:Cell

    pub_type: 杂志文章

    doi:10.1016/0092-8674(92)90389-t

    authors: Mounkes LC,Jones RS,Liang BC,Gelbart W,Fuller MT

    更新日期:1992-12-11 00:00:00

  • Competing Protein-RNA Interaction Networks Control Multiphase Intracellular Organization.

    abstract::Liquid-liquid phase separation (LLPS) mediates formation of membraneless condensates such as those associated with RNA processing, but the rules that dictate their assembly, substructure, and coexistence with other liquid-like compartments remain elusive. Here, we address the biophysical mechanism of this multiphase o...

    journal_title:Cell

    pub_type: 杂志文章

    doi:10.1016/j.cell.2020.03.050

    authors: Sanders DW,Kedersha N,Lee DSW,Strom AR,Drake V,Riback JA,Bracha D,Eeftens JM,Iwanicki A,Wang A,Wei MT,Whitney G,Lyons SM,Anderson P,Jacobs WM,Ivanov P,Brangwynne CP

    更新日期:2020-04-16 00:00:00

  • Heterozygous deficiency of PHD2 restores tumor oxygenation and inhibits metastasis via endothelial normalization.

    abstract::A key function of blood vessels, to supply oxygen, is impaired in tumors because of abnormalities in their endothelial lining. PHD proteins serve as oxygen sensors and may regulate oxygen delivery. We therefore studied the role of endothelial PHD2 in vessel shaping by implanting tumors in PHD2(+/-) mice. Haplodeficien...

    journal_title:Cell

    pub_type: 杂志文章

    doi:10.1016/j.cell.2009.01.020

    authors: Mazzone M,Dettori D,de Oliveira RL,Loges S,Schmidt T,Jonckx B,Tian YM,Lanahan AA,Pollard P,de Almodovar CR,De Smet F,Vinckier S,Aragonés J,Debackere K,Luttun A,Wyns S,Jordan B,Pisacane A,Gallez B,Lampugnani MG,Dej

    更新日期:2009-03-06 00:00:00

  • Trans-acting nuclear protein responsible for induction of rearranged human immunoglobulin heavy chain gene.

    abstract::A complete human gamma 1 heavy chain gene (HIG1) was transferred into mouse cells by protoplast fusion. The HIG1 gene was strongly expressed in mouse myeloma cells but not in mouse fibroblasts (L cells). Nuclear extracts from myeloma cells were injected into L cell transformants containing one copy of the HIG1 gene; t...

    journal_title:Cell

    pub_type: 杂志文章

    doi:10.1016/0092-8674(86)90534-9

    authors: Maeda H,Kitamura D,Kudo A,Araki K,Watanabe T

    更新日期:1986-04-11 00:00:00

  • A point mutation in the conserved hexanucleotide at a yeast 5' splice junction uncouples recognition, cleavage, and ligation.

    abstract::We have constructed an actin-HIS4 gene fusion, such that expression of HIS4 requires proper splicing of the actin intron. Using this chimeric gene in an in vivo screen for splicing mutations, we have isolated a G to A transition in the fifth position of the yeast 5' consensus sequence/GTAPyGT. This mutation still allo...

    journal_title:Cell

    pub_type: 杂志文章

    doi:10.1016/0092-8674(85)90065-0

    authors: Parker R,Guthrie C

    更新日期:1985-05-01 00:00:00

  • The Secreted Enzyme PM20D1 Regulates Lipidated Amino Acid Uncouplers of Mitochondria.

    abstract::Brown and beige adipocytes are specialized cells that express uncoupling protein 1 (UCP1) and dissipate chemical energy as heat. These cells likely possess alternative UCP1-independent thermogenic mechanisms. Here, we identify a secreted enzyme, peptidase M20 domain containing 1 (PM20D1), that is enriched in UCP1(+) v...

    journal_title:Cell

    pub_type: 杂志文章

    doi:10.1016/j.cell.2016.05.071

    authors: Long JZ,Svensson KJ,Bateman LA,Lin H,Kamenecka T,Lokurkar IA,Lou J,Rao RR,Chang MR,Jedrychowski MP,Paulo JA,Gygi SP,Griffin PR,Nomura DK,Spiegelman BM

    更新日期:2016-07-14 00:00:00

  • Exported proteins required for virulence and rigidity of Plasmodium falciparum-infected human erythrocytes.

    abstract::A major part of virulence for Plasmodium falciparum malaria infection, the most lethal parasitic disease of humans, results from increased rigidity and adhesiveness of infected host red cells. These changes are caused by parasite proteins exported to the erythrocyte using novel trafficking machinery assembled in the h...

    journal_title:Cell

    pub_type: 杂志文章

    doi:10.1016/j.cell.2008.04.051

    authors: Maier AG,Rug M,O'Neill MT,Brown M,Chakravorty S,Szestak T,Chesson J,Wu Y,Hughes K,Coppel RL,Newbold C,Beeson JG,Craig A,Crabb BS,Cowman AF

    更新日期:2008-07-11 00:00:00

  • Mitochondrial DNA synthesis in cell cycle mutants of Saccharomyces cerevisiae.

    abstract::Mitochondrial DNA replication was examined in mutants for seven different Saccharomyces cerevisiae genes which are essential for nuclear DNA replication. In cdc8 and cdc21, mutants defective in continued replication during the S phase of the cell cycle, mitochondrial DNA replication ceases at the nonpermissive tempera...

    journal_title:Cell

    pub_type: 杂志文章

    doi:10.1016/0092-8674(75)90061-6

    authors: Newlon CS,Fangman WL

    更新日期:1975-08-01 00:00:00

  • Regulation of fibronectin biosynthesis by glucocorticoids in human fibrosarcoma cells and normal fibroblasts.

    abstract::When treated with the synthetic glucocorticoid dexamethasone, HT1080 human fibrosarcoma cells show changes in morphology, adhesion, and the extracellular matrix. Dexamethasone treatment results in a tenfold increase in the rate of fibronectin biosynthesis in HT1080 cells and a twofold increase in untransformed, normal...

    journal_title:Cell

    pub_type: 杂志文章

    doi:10.1016/0092-8674(83)90357-4

    authors: Oliver N,Newby RF,Furcht LT,Bourgeois S

    更新日期:1983-05-01 00:00:00

  • Lifted Up from Lockdown.

    abstract::The pandemic has impacted every scientist differently. Many negative impacts are frequently discussed. Here we highlight unexpected positives that we have found and hope will persist: improved access to experts; deeper and broader human engagement among colleagues, collaborators, and competitors; and significant democ...

    journal_title:Cell

    pub_type: 杂志文章

    doi:10.1016/j.cell.2020.09.027

    authors: Arturo EC,Saphire EO

    更新日期:2020-10-01 00:00:00

  • Separation of drug transport and chloride channel functions of the human multidrug resistance P-glycoprotein.

    abstract::The human multidrug resistance P-glycoprotein is an active transporter that pumps cytotoxic drugs out of cells. Expression of P-glycoprotein is also associated with a volume-activated chloride channel. Here we address the relationship between these two functions. Drug transport requires ATP hydrolysis while, in contra...

    journal_title:Cell

    pub_type: 杂志文章

    doi:10.1016/0092-8674(92)90263-c

    authors: Gill DR,Hyde SC,Higgins CF,Valverde MA,Mintenig GM,Sepúlveda FV

    更新日期:1992-10-02 00:00:00

  • Stimulation of a Chlamydomonas chloroplast promoter by novobiocin in situ and in E. coli implies regulation by torsional stress in the chloroplast DNA.

    abstract::We have characterized regulation of a complex Chlamydomonas reinhardtii chloroplast (PA) whose activity is stimulated by the DNA gyrase inhibitor novobiocin, both in the alga itself and in a heterologous Escherichia coli plasmid system. Since novobiocin is known to reduce torsional stress in E. coli DNA, we interpret ...

    journal_title:Cell

    pub_type: 杂志文章

    doi:10.1016/0092-8674(87)90431-4

    authors: Thompson RJ,Mosig G

    更新日期:1987-01-30 00:00:00