Associated Papers
Genetics and cancer-related Laminopathies: Involvement of Lamins and Lamin-Chromatin Interactions.
Desgrouas C et al.
Sub-cellular Biochemistry, 2025
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
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.
Elouej S et al.
Nature Communications, 2020
32917887 (PubMed )
Supplement: 41467_2020_18146_MOESM2_ESM.pdf
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
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
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.
Ben Yaou R et al.
European Journal of Human Genetics : Ejhg, 2011
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