Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.
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The mutant form of lamin A that causes Hutchinson-Gilford progeria is a biomarker of cellular aging in human skinThe nuclear envelopathies and human diseasesLoss of mitochondrial protease OMA1 alters processing of the GTPase OPA1 and causes obesity and defective thermogenesis in miceEmerin-prelamin A interplay in human fibroblastsMammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processesHuman ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severityExome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndromeBlocking protein farnesylation improves nuclear shape abnormalities in keratinocytes of mice expressing the prelamin A variant in Hutchinson-Gilford progeria syndromeHallmarks of progeroid syndromes: lessons from mice and reprogrammed cellsMolecular insights into the premature aging disease progeriaSearch and insights into novel genetic alterations leading to classical and atypical Werner syndromeWhen lamins go bad: nuclear structure and diseaseThe structural basis of ZMPSTE24-dependent laminopathiesLaminopathies and the long strange trip from basic cell biology to therapyPrelamin A farnesylation and progeroid syndromesKeratinocyte-specific expression of fatty acid transport protein 4 rescues the wrinkle-free phenotype in Slc27a4/Fatp4 mutant miceInvolvement of xeroderma pigmentosum group A (XPA) in progeria arising from defective maturation of prelamin A.Disheveled hair and ear (Dhe), a spontaneous mouse Lmna mutation modeling human laminopathies.Dynamics of lamin-A processing following precursor accumulation.Diseases of the nuclear envelope.The posttranslational processing of prelamin A and disease.Blocking protein farnesyltransferase improves nuclear shape in fibroblasts from humans with progeroid syndromesDirect synthesis of lamin A, bypassing prelamin a processing, causes misshapen nuclei in fibroblasts but no detectable pathology in mice.Low and high expressing alleles of the LMNA gene: implications for laminopathy disease development.Inhibiting farnesylation reverses the nuclear morphology defect in a HeLa cell model for Hutchinson-Gilford progeria syndrome.Requirements for efficient proteolytic cleavage of prelamin A by ZMPSTE24.The role of DNA damage in laminopathy progeroid syndromes.Inner nuclear membrane proteins: impact on human disease.Prelamin A and lamin A appear to be dispensable in the nuclear lamina.Accelerated ageing in mice deficient in Zmpste24 protease is linked to p53 signalling activation.Prelamin A, Zmpste24, misshapen cell nuclei, and progeria--new evidence suggesting that protein farnesylation could be important for disease pathogenesis.Absence of progeria-like disease phenotypes in knock-in mice expressing a non-farnesylated version of progerin.A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorderRapamycin treatment of Mandibuloacral dysplasia cells rescues localization of chromatin-associated proteins and cell cycle dynamicsHIV protease inhibitors do not cause the accumulation of prelamin A in PBMCs from patients receiving first line therapy: the ANRS EP45 "aging" studyMolecular bases of progeroid syndromes.Connective tissue and related disorders and preterm birth: clues to genes contributing to prematurity.Role of the nuclear envelope in genome organization and gene expression.Lipid posttranslational modifications. Farnesyl transferase inhibitors.Nucleoplasmic lamins and their interaction partners, LAP2alpha, Rb, and BAF, in transcriptional regulation.
P2860
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P2860
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh
2005年學術文章
@zh-hant
name
Loss of ZMPSTE24 (FACE-1) caus ...... ulation of Lamin A precursors.
@en
Loss of ZMPSTE24
@nl
type
label
Loss of ZMPSTE24 (FACE-1) caus ...... ulation of Lamin A precursors.
@en
Loss of ZMPSTE24
@nl
prefLabel
Loss of ZMPSTE24 (FACE-1) caus ...... ulation of Lamin A precursors.
@en
Loss of ZMPSTE24
@nl
P2093
P2860
P50
P356
P1476
Loss of ZMPSTE24 (FACE-1) caus ...... mulation of Lamin A precursors
@en
P2093
Amandine Boyer
Anja Wagner
Catherine Badens
Fabienne Giuliano
Frits A Beemer
Irène Boccaccio
Pierre Cau
Rafaëlle Bernard
Raoul C M Hennekam
Sébastien Courrier
P2860
P304
P356
10.1093/HMG/DDI159
P50
P577
2005-04-20T00:00:00Z