Associated Papers
Rare ZMPSTE24 variants increase risk of hypertriglyceridemia and metabolic syndrome.
Le Collen L et al.
European Journal of Endocrinology, 2025
Targeted gene panel provides advantages over whole-exome sequencing for diagnosing obesity and diabetes mellitus.
Yu H et al.
Journal of Molecular Cell Biology, 2023
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4
ZMPSTE24 missense mutations that cause progeroid diseases decrease prelamin A cleavage activity and/or protein stability.
Spear ED et al.
Disease Models & Mechanisms, 2018
Nuclear lamina genetic variants, including a truncated LAP2, in twins and siblings with nonalcoholic fatty liver disease.
Brady GF et al.
Hepatology (baltimore, Md.), 2018
Translocon Declogger Ste24 Protects against IAPP Oligomer-Induced Proteotoxicity.
Kayatekin C et al.
Cell, 2018
A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy.
Galant D et al.
Cells, 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
Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity.
Barrowman J et al.
Human Molecular Genetics, 2012
High prevalence of laminopathies among patients with metabolic syndrome.
Dutour A et al.
Human Molecular Genetics, 2011
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