Disease on EC 3.4.24.84 - Ste24 endopeptidase and Organism(s) Homo sapiens and UniProt Accession O75844
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Acanthosis Nigricans
Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.
Acro-Osteolysis
A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features.
Acro-Osteolysis
A novel homozygous LMNA mutation (p.Met540Ile) causes mandibuloacral dysplasia type A.
Acro-Osteolysis
A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism.
Acro-Osteolysis
Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.
Alopecia
Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging.
Atherosclerosis
LMNA mutations resulting in lipodystrophy and HIV protease inhibitors trigger vascular smooth muscle cell senescence and calcification: Role of ZMPSTE24 downregulation.
Carcinogenesis
Mutational and expressional alterations of ZMPSTE24, DNA damage response-related gene, in gastric and colorectal cancers.
Carcinoma
Identification and chromosomal location of two human genes encoding enzymes potentially involved in proteolytic maturation of farnesylated proteins.
Cardiomyopathies
A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy.
Cardiomyopathy, Dilated
A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy.
Colorectal Neoplasms
Mutational and expressional alterations of ZMPSTE24, DNA damage response-related gene, in gastric and colorectal cancers.
COVID-19
ZMPSTE24 Regulates SARS-CoV-2 Spike Protein-enhanced Expression of Endothelial PAI-1.
Cowpox
ZMPSTE24 Is Downstream Effector of Interferon-Induced Transmembrane Antiviral Activity.
Genetic Diseases, Inborn
A novel homozygous LMNA mutation (p.Met540Ile) causes mandibuloacral dysplasia type A.
Glomerulosclerosis, Focal Segmental
Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency.
Hearing Loss, Sensorineural
A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism.
Infections
ZMPSTE24 Is Downstream Effector of Interferon-Induced Transmembrane Antiviral Activity.
Influenza, Human
ZMPSTE24 Is Downstream Effector of Interferon-Induced Transmembrane Antiviral Activity.
Joint Diseases
A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features.
Kidney Failure, Chronic
Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency.
Laminopathies
A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy.
Laminopathies
Changes at the nuclear lamina alter binding of pioneer factor Foxa2 in aged liver.
Laminopathies
HIV protease inhibitors inhibit FACE1/ZMPSTE24: a mechanism for acquired lipodystrophy in patients on highly active antiretroviral therapy?
Laminopathies
Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy.
Laminopathies
Inhibiting farnesylation reverses the nuclear morphology defect in a HeLa cell model for Hutchinson-Gilford progeria syndrome.
Laminopathies
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
Laminopathies
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.
Laminopathies
Microcephalia with mandibular and dental dysplasia in adult Zmpste24-deficient mice.
Leukemia
ZMPSTE24 Is Downstream Effector of Interferon-Induced Transmembrane Antiviral Activity.
Lipodystrophy
A novel homozygous LMNA mutation (p.Met540Ile) causes mandibuloacral dysplasia type A.
Lipodystrophy
A Potent HIV Protease Inhibitor, Darunavir, Does Not Inhibit ZMPSTE24 or Lead to an Accumulation of Farnesyl-prelamin A in Cells.
Lipodystrophy
Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging.
Lipodystrophy
Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.
Lipodystrophy
Failure of ossification of the occipital bone in mandibuloacral dysplasia type B.
Lipodystrophy
LMNA missense mutations causing familial partial lipodystrophy do not lead to an accumulation of prelamin A.
Lipodystrophy
LMNA mutations resulting in lipodystrophy and HIV protease inhibitors trigger vascular smooth muscle cell senescence and calcification: Role of ZMPSTE24 downregulation.
Lipodystrophy
Proteomic profiling of adipose tissue from Zmpste24-/- mice, a model of lipodystrophy and premature ageing, reveals major changes in mitochondrial function and vimentin processing.
Lipodystrophy, Congenital Generalized
Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China.
Liver Cirrhosis, Biliary
LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome.
Lung Injury
Preventing loss of mechanosensation by the nuclear membranes of alveolar cells reduces lung injury in mice during mechanical ventilation.
Lymphoma
Identification and chromosomal location of two human genes encoding enzymes potentially involved in proteolytic maturation of farnesylated proteins.
Metabolic Syndrome
A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy.
Metabolic Syndrome
ZMPSTE24 Regulates SARS-CoV-2 Spike Protein-enhanced Expression of Endothelial PAI-1.
Micrognathism
Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.
Muscle Weakness
Skeletal muscle contractile function and neuromuscular performance in Zmpste24 (-/-) mice, a murine model of human progeria.
Muscle Weakness
Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect.
Muscular Atrophy
Skeletal muscle contractile function and neuromuscular performance in Zmpste24 (-/-) mice, a murine model of human progeria.
Muscular Diseases
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.
Neoplasms
Mutational and expressional alterations of ZMPSTE24, DNA damage response-related gene, in gastric and colorectal cancers.
Neoplasms
Prelamin A causes progeria through cell-extrinsic mechanisms and prevents cancer invasion.
Obesity, Abdominal
A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy.
Osteoporosis
Accelerated features of age-related bone loss in zmpste24 metalloproteinase-deficient mice.
Osteoporosis
Application of micro-CT assessment of 3-D bone microstructure in preclinical and clinical studies.
Perinatal Death
A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS.
Premature Birth
Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.
Progeria
A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy.
Progeria
A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS.
Progeria
Abnormal nuclear morphology is independent of longevity in a zmpste24-deficient fish model of Hutchinson-Gilford progeria syndrome (HGPS).
Progeria
Biogenesis of the Saccharomyces cerevisiae Pheromone a-Factor, from Yeast Mating to Human Disease.
Progeria
Depleting the methyltransferase Suv39h1 improves DNA repair and extends lifespan in a progeria mouse model.
Progeria
Different prelamin A forms accumulate in human fibroblasts: a study in experimental models and progeria.
Progeria
Dysfunction of iPSC-derived endothelial cells in human Hutchinson-Gilford progeria syndrome.
Progeria
Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome.
Progeria
Genomic Instability and DNA Damage Responses in Progeria Arising from Defective Maturation of Prelamin A.
Progeria
Histone H4 lysine 16 hypoacetylation is associated with defective DNA repair and premature senescence in Zmpste24-deficient mice.
Progeria
Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity.
Progeria
Microcephalia with mandibular and dental dysplasia in adult Zmpste24-deficient mice.
Progeria
miR?342?5p promotes Zmpste24?deficient mouse embryonic fibroblasts proliferation by suppressing GAS2.
Progeria
Next-Generation Sequencing and Quantitative Proteomics of Hutchinson-Gilford progeria syndrome-derived cells point to a role of nucleotide metabolism in premature aging.
Progeria
Nuclear envelope alterations generate an aging-like epigenetic pattern in mice deficient in Zmpste24 metalloprotease.
Progeria
Prelamin A acts to accelerate smooth muscle cell senescence and is a novel biomarker of human vascular aging.
Progeria
Prelamin A causes progeria through cell-extrinsic mechanisms and prevents cancer invasion.
Progeria
Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C.
Progeria
Site specificity determinants for prelamin A cleavage by the zinc metalloprotease ZMPSTE24.
Progeria
Skeletal muscle contractile function and neuromuscular performance in Zmpste24 (-/-) mice, a murine model of human progeria.
Progeria
ZMPSTE24 missense mutations that cause progeroid diseases decrease prelamin A cleavage activity and/or protein stability.
Pulmonary Fibrosis
Accelerated aging induced by deficiency of Zmpste24 protects old mice to develop bleomycin-induced pulmonary fibrosis.
ste24 endopeptidase deficiency
A Potent HIV Protease Inhibitor, Darunavir, Does Not Inhibit ZMPSTE24 or Lead to an Accumulation of Farnesyl-prelamin A in Cells.
ste24 endopeptidase deficiency
Accelerated ageing in mice deficient in Zmpste24 protease is linked to p53 signalling activation.
ste24 endopeptidase deficiency
Application of micro-CT assessment of 3-D bone microstructure in preclinical and clinical studies.
ste24 endopeptidase deficiency
Deficiency in ZMPSTE24 and resulting farnesyl-prelamin A accumulation only modestly affect mouse adipose tissue stores.
ste24 endopeptidase deficiency
Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency.
ste24 endopeptidase deficiency
Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient mice.
ste24 endopeptidase deficiency
Histone H4 lysine 16 hypoacetylation is associated with defective DNA repair and premature senescence in Zmpste24-deficient mice.
ste24 endopeptidase deficiency
HIV protease inhibitors block the zinc metalloproteinase ZMPSTE24 and lead to an accumulation of prelamin A in cells.
ste24 endopeptidase deficiency
Nuclear envelope defects cause stem cell dysfunction in premature-aging mice.
ste24 endopeptidase deficiency
Progeroid syndrome patients with ZMPSTE24 deficiency could benefit when treated with rapamycin and dimethylsulfoxide.
ste24 endopeptidase deficiency
Proteomic profiling of adipose tissue from Zmpste24-/- mice, a model of lipodystrophy and premature ageing, reveals major changes in mitochondrial function and vimentin processing.
ste24 endopeptidase deficiency
Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings.
ste24 endopeptidase deficiency
Targeting RAS-converting enzyme 1 overcomes senescence and improves progeria-like phenotypes of ZMPSTE24 deficiency.
ste24 endopeptidase deficiency
Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect.
Vaccinia
ZMPSTE24 Is Downstream Effector of Interferon-Induced Transmembrane Antiviral Activity.
Vesicular Stomatitis
ZMPSTE24 Is Downstream Effector of Interferon-Induced Transmembrane Antiviral Activity.