Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. - Wikidata - awgldk - TriplyDB

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.

http://www.wikidata.org/entity/Q46447976

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The mutant form of lamin A that causes Hutchinson-Gilford progeria is a biomarker of cellular aging in human skin The nuclear envelopathies and human diseases Loss of mitochondrial protease OMA1 alters processing of the GTPase OPA1 and causes obesity and defective thermogenesis in mice Emerin-prelamin A interplay in human fibroblasts Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome Blocking protein farnesylation improves nuclear shape abnormalities in keratinocytes of mice expressing the prelamin A variant in Hutchinson-Gilford progeria syndrome Hallmarks of progeroid syndromes: lessons from mice and reprogrammed cells Molecular insights into the premature aging disease progeria Search and insights into novel genetic alterations leading to classical and atypical Werner syndrome When lamins go bad: nuclear structure and disease The structural basis of ZMPSTE24-dependent laminopathies Laminopathies and the long strange trip from basic cell biology to therapy Prelamin A farnesylation and progeroid syndromes Keratinocyte-specific expression of fatty acid transport protein 4 rescues the wrinkle-free phenotype in Slc27a4/Fatp4 mutant mice Involvement 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 syndromes Direct 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 disorder Rapamycin treatment of Mandibuloacral dysplasia cells rescues localization of chromatin-associated proteins and cell cycle dynamics HIV protease inhibitors do not cause the accumulation of prelamin A in PBMCs from patients receiving first line therapy: the ANRS EP45 "aging" study Molecular 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.

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P2860

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.

http://www.wikidata.org/entity/Q46447976

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2005 nî lūn-bûn

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2005年学术文章

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2005年学术文章

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2005年学术文章

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2005年学术文章

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2005年学术文章

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2005年學術文章

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2005年學術文章

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2005年學術文章

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Loss of ZMPSTE24 (FACE-1) caus ...... ulation of Lamin A precursors.

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Loss of ZMPSTE24

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type

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Loss of ZMPSTE24 (FACE-1) caus ...... ulation of Lamin A precursors.

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Loss of ZMPSTE24

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Loss of ZMPSTE24 (FACE-1) caus ...... ulation of Lamin A precursors.

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Loss of ZMPSTE24

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Human Molecular Genetics

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Loss of ZMPSTE24 (FACE-1) caus ...... mulation of Lamin A precursors

@en

P2093

Amandine Boyer

http://www.w3.org/2001/XMLSchema#string

Anja Wagner

http://www.w3.org/2001/XMLSchema#string

Catherine Badens

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Fabienne Giuliano

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Frits A Beemer

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Irène Boccaccio

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Pierre Cau

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Rafaëlle Bernard

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Raoul C M Hennekam

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Sébastien Courrier

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P2860

Identification and chromosomal location of two human genes encoding enzymes potentially involved in proteolytic maturation of farnesylated proteins

Prenylated prelamin A interacts with Narf, a novel nuclear protein

Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome

The strange case of the "lumper" lamin A/C gene and human premature ageing

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient mice

Aging and nuclear organization: lamins and progeria.

Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect.

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1503-1513

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10.1093/HMG/DDI159

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11

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14

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Carlos López Otín

Annachiara De Sandre-Giovannoli

Claire L Navarro

Juan Cadiñanos

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2005-04-20T00:00:00Z

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7894922

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15843403

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