| 1 | HGPSA, ZMPSTE24 |
| A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder. | |
| Wang Y, Lichter-Konecki U, Anyane-Yeboa K, Shaw JE, Lu JT, Östlund C, Shin JY, Clark LN, Gundersen GG, Nagy PL, Worman HJ. | |
| J Cell Sci 129(10):1975-80. doi: 10.1242/jcs.187302. 2016 | |
| 2 | HGPSA, ZMPSTE24 |
| Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity. | |
| Barrowman J, Wiley PA, Hudon-Miller SE, Hrycyna CA, Michaelis S. | |
| Hum Mol Genet 21(18):4084-93. doi: 10.1093/hmg/dds233. 2012 | |