Associated Papers
Genetics and cancer-related Laminopathies: Involvement of Lamins and Lamin-Chromatin Interactions.
Desgrouas C et al.
Sub-cellular Biochemistry, 2025
A novel MTX2 gene splice site variant resulting in exon skipping, causing the recently described mandibuloacral dysplasia progeroid syndrome.
Yeter Doğan B et al.
American Journal of Medical Genetics. Part A, 2023
Molecular Insights into Mitochondrial Protein Translocation and Human Disease.
Ruiz-Pesini E et al.
Genes, 2021
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.
Elouej S et al.
Nature Communications, 2020
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