EC Number   |
Application |
Reference |
|---|
   3.4.24.84 | medicine |
existence of a checkpoint response activated by the nuclear abnormalities caused by prelamin A accumulation, hyperactivation of the tumour suppressor p53 may cause accelerated ageing |
670378 |
| 3.4.24.84 | medicine |
identification of compound heterozygous frameshifting mutations in exon 1, c.50delA, and exon 5, c.584_585delAT of the ZMPSTE24 gene in two brothers affected with restrictive dermopathy, who died in the neonatal period. Both deletions are frameshifting and are predicted to cause the appearance of premature termination codons |
710803 |
| 3.4.24.84 | medicine |
mutations in the ZMPSTE24 gene lead to incomplete maturation of prelamin A and as a consequence to the premature aging disease Hutchinson-Gilford Progeria Syndrome. In general, the residual activity of ZMPSTE24 patient alleles correlates with disease severity. Complete loss-of-function alleles are associated with restrictive dermopathy, whereas retention of partial, measureable activity results in mandibuloacral dysplasia type B or severe progeria |
735044 |
| 3.4.24.84 | medicine |
restrictive dermopathy is an autosomal recessive laminopathy caused by inactivating Zmpste24 mutations that result in defective processing and nuclear accumulation of prelamin A |
669751 |
