Associated Papers
National survey of Hutchinson-Gilford progeria syndrome and progeroid laminopathy in Japan.
Okawa Y et al.
Aging, 2025
Disease pathogenicity in Hutchinson-Gilford progeria syndrome mice: insights from lung-associated alterations.
Wang J et al.
Molecular Medicine (cambridge, Mass.), 2025
Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study.
Zhang R et al.
Bmc Pediatrics, 2024
Epidemiological characteristics of patients with Hutchinson-Gilford progeria syndrome and progeroid laminopathies in China.
Wang J et al.
Pediatric Research, 2024
Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review.
Fu X et al.
Frontiers in Endocrinology, 2024
The farnesyl transferase inhibitor (FTI) lonafarnib improves nuclear morphology in ZMPSTE24-deficient fibroblasts from patients with the progeroid disorder MAD-B.
Odinammadu KO et al.
Nucleus (austin, Tex.), 2023
Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson-Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies.
Hartinger R et al.
Cells, 2023
Diagnosis and genetic analysis of a case with mandibuloacral dysplasia type B due to compound heterozygous mutations of the ZMPSTE24 gene.
Wu DD et al.
Yi Chuan = Hereditas, 2022
DNA repair-related genes and adipogenesis: Lessons from congenital lipodystrophies.
Campos JTAM et al.
Genetics and Molecular Biology, 2022
Protein structural and mechanistic basis of progeroid laminopathies.
Marcelot A et al.
The Febs Journal, 2021
A humanized yeast system to analyze cleavage of prelamin A by ZMPSTE24.
Spear ED et al.
Methods (san Diego, Calif.), 2019
Proteomic Evidence of Biological Aging in a Child with a Compound Heterozygous ZMPSTE24 Mutation.
Lucas-Herald AK et al.
Proteomics. Clinical Applications, 2019
ZMPSTE24 missense mutations that cause progeroid diseases decrease prelamin A cleavage activity and/or protein stability.
Spear ED et al.
Disease Models & Mechanisms, 2018
Translocon Declogger Ste24 Protects against IAPP Oligomer-Induced Proteotoxicity.
Kayatekin C et al.
Cell, 2018
Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing.
Cenni V et al.
Ageing Research Reviews, 2018
Failure of ossification of the occipital bone in mandibuloacral dysplasia type B.
Haye D et al.
American Journal of Medical Genetics. Part A, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.
Navarro CL et al.
European Journal of Human Genetics : Ejhg, 2014
The structural basis of ZMPSTE24-dependent laminopathies.
Quigley A et al.
Science (new York, N.y.), 2013
The epidemiology of premature aging and associated comorbidities.
Coppedè F
Clinical Interventions in Aging, 2013
Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity.
Barrowman J et al.
Human Molecular Genetics, 2012
Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.
Ahmad Z et al.
American Journal of Medical Genetics. Part A, 2010
Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings.
Miyoshi Y et al.
Clinical Genetics, 2008