|
ZMPSTE24
|
0.800 |
Biomarker
|
disease |
MGD |
Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect.
|
12235369 |
2002 |
|
ZMPSTE24
|
0.800 |
Biomarker
|
disease |
MGD |
Zmpste24-deficient (Zmpste24(-/-)) mice exhibit retarded growth, alopecia, micrognathia, dental abnormalities, osteolytic lesions in bones, and osteoporosis, which are phenotypes shared with Hutchinson-Gilford progeria syndrome, a human disease caused by the synthesis of a mutant prelamin A that cannot undergo processing to lamin A. Zmpste24(-/-) mice also develop muscle weakness.
|
15608054 |
2004 |
|
ZMPSTE24
|
0.800 |
Biomarker
|
disease |
BEFREE |
Zmpste24-deficient (Zmpste24(-/-)) mice exhibit retarded growth, alopecia, micrognathia, dental abnormalities, osteolytic lesions in bones, and osteoporosis, which are phenotypes shared with Hutchinson-Gilford progeria syndrome, a human disease caused by the synthesis of a mutant prelamin A that cannot undergo processing to lamin A. Zmpste24(-/-) mice also develop muscle weakness.
|
15608054 |
2004 |
|
ZMPSTE24
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mouse models, such as Lmna knockout, Zmpste24 knockout, and Lmna L530P knockin will help the study of progeria.
|
15479179 |
2004 |
|
ZMPSTE24
|
0.800 |
Biomarker
|
disease |
BEFREE |
Some laminopathies affect the cardiovascular system, and a few (namely, Dunnigan-type familial partial lipodystrophy [FPLD2] and Hutchinson-Gilford progeria syndrome [HGPS]) feature atherosclerosis as a key component.
|
15205220 |
2004 |
|
ZMPSTE24
|
0.800 |
Biomarker
|
disease |
BEFREE |
Finally, we draw attention to similarities in phenotype between FACE1-silenced HeLa cells and fibroblasts from patients with Hutchinson-Gilford progeria syndrome containing prelamin A mutations that prevent cleavage by the FACE1 endoprotease.
|
15671064 |
2005 |
|
ZMPSTE24
|
0.800 |
Biomarker
|
disease |
BEFREE |
A FTI also mislocalized prelamin A and improved nuclear shape in Zmpste24-deficient mouse embryonic fibroblasts (P < 0.0001) and improved nuclear shape in human HGPS fibroblasts (P < 0.0001).
|
16129834 |
2005 |
|
ZMPSTE24
|
0.800 |
Biomarker
|
disease |
BEFREE |
Prelamin A, Zmpste24, misshapen cell nuclei, and progeria--new evidence suggesting that protein farnesylation could be important for disease pathogenesis.
|
16207929 |
2005 |
|
ZMPSTE24
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
It has been shown that fibroblasts from HGPS patients are frequently resistant to immortalization with telomerase (hTERT), consistent with the idea that the loss of a dominant acting HGPS gene is a pre-requisite for immortalization.
|
16093717 |
2005 |
|
ZMPSTE24
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Whereas the loss of function mutation of ZMPSTE24 normally results in lethal RD, the truncation of LMNA seems to be a salvage alteration alleviating the clinical picture to the HGPS phenotype.
|
16671095 |
2006 |
|
ZMPSTE24
|
0.800 |
Biomarker
|
disease |
MGD |
Nevertheless, an accumulation of farnesyl-prelamin A (as occurs with a deficiency in the prelamin A processing enzyme Zmpste24) caused dramatically misshapen nuclei and progeria-like disease phenotypes.
|
16511604 |
2006 |
|
ZMPSTE24
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hutchinson-Gilford progeria syndrome (HGPS; Online Mendelian Inheritance in Man accession no.
|
16461887 |
2006 |
|
ZMPSTE24
|
0.800 |
Biomarker
|
disease |
MGD |
We tested the efficacy of an FTI (ABT-100) in Zmpste24-deficient mice, a mouse model of progeria.
|
16484451 |
2006 |
|
ZMPSTE24
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Whereas the loss of function mutation of ZMPSTE24 normally results in lethal RD, the truncation of LMNA seems to be a salvage alteration alleviating the clinical picture to the HGPS phenotype.
|
16671095 |
2006 |
|
ZMPSTE24
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To date, mutations in two genes, LMNA and ZMPSTE24, have been found in patients with HGPS.
|
17459035 |
2007 |
|
ZMPSTE24
|
0.800 |
Biomarker
|
disease |
BEFREE |
Here we report that the recruitment of DSB repair factors Rad50 and Rad51 to the DSB sites, as marked by gamma-H2AX, was impaired in human HGPS and Zmpste24-deficient cells.
|
17848622 |
2008 |
|
ZMPSTE24
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hutchinson-Gilford progeria syndrome (HGPS) patients are heterozygous for aLMNA gene mutation while Restrictive Dermopathy (RD) individuals have a homozygous deficiency in the processing protease Zmpste24.
|
19851476 |
2009 |
|
ZMPSTE24
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We did not find a mutation in genes known to be associated with congenital lipodystrophy (APGAT2, BSCL2, CAV1, PTRF-CAVIN, PPARG, LMNB2) or with Hutchinson-Gilford progeria (ZMPSTE24, LMNA/C).
|
20979188 |
2010 |
|
ZMPSTE24
|
0.800 |
Biomarker
|
disease |
MGD |
Zmpste24-deficient mice exhibit multiple defects that phenocopy human accelerated aging processes such as Hutchinson-Gilford progeria syndrome.
|
20805469 |
2010 |
|
ZMPSTE24
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe a progeroid syndrome that partially phenocopies Hutchinson-Gilford progeria syndrome (HGPS) but also exhibits distinctive features, including the absence of cardiovascular deficiencies characteristic of HGPS, the lack of mutations in LMNA and ZMPSTE24, and a relatively long lifespan of affected individuals.
|
21549337 |
2011 |
|
ZMPSTE24
|
0.800 |
Biomarker
|
disease |
BEFREE |
The premature aging phenotype of Hutchinson Gilford progeria syndrome is largely recapitulated in mice deficient for the lamin A-processing enzyme, Zmpste24.
|
21746928 |
2011 |
|
ZMPSTE24
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, by using progeroid mice deficient in ZMPSTE24 (zinc metalloprotease STE24 homologue) involved in lamin A maturation, we have demonstrated that, besides these abnormal cellular responses to stress, dysregulation of the somatotropic axis is responsible for some of the alterations associated with progeria.
|
22103512 |
2011 |
|
ZMPSTE24
|
0.800 |
Biomarker
|
disease |
BEFREE |
Failure to cleave the prelamin A "tail", due to mutations in either prelamin A or ZMPSTE24, results in a permanently prenylated form of prelamin A that underlies the premature aging disease Hutchinson-Gilford Progeria Syndrome (HGPS) and related progeroid disorders.
|
22355414 |
2012 |
|
ZMPSTE24
|
0.800 |
Biomarker
|
disease |
CTD_human |
Resveratrol rescues SIRT1-dependent adult stem cell decline and alleviates progeroid features in laminopathy-based progeria.
|
23217256 |
2012 |
|
ZMPSTE24
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutations in the nuclear membrane zinc metalloprotease ZMPSTE24 lead to diseases of lamin processing (laminopathies), such as the premature aging disease progeria and metabolic disorders.
|
23539603 |
2013 |