Associated Papers
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
Mutations Involved in Premature-Ageing Syndromes.
Coppedè F
The Application of Clinical Genetics, 2021
Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines.
Hitzert MM et al.
Orphanet Journal of Rare Diseases, 2019
A humanized yeast system to analyze cleavage of prelamin A by ZMPSTE24.
Spear ED et al.
Methods (san Diego, Calif.), 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
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
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