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Biallelic mutations in Tenascin-X cause classical-like Ehlers-Danlos syndrome with slowly progressive muscular weakness.
Brisset M, Metay C, Carlier RY, Badosa C, Marques C, Schalkwijk J, vanVlijmen-Willems I, Jimenez-Mallebrera C, Keren B, Jobic V, Laforêt P, Malfatti E. Brisset M, et al. Among authors: vanvlijmen willems i. Neuromuscul Disord. 2020 Oct;30(10):833-838. doi: 10.1016/j.nmd.2020.09.002. Epub 2020 Sep 7. Neuromuscul Disord. 2020. PMID: 32988710
Cystatin M/E is a high affinity inhibitor of cathepsin V and cathepsin L by a reactive site that is distinct from the legumain-binding site. A novel clue for the role of cystatin M/E in epidermal cornification.
Cheng T, Hitomi K, van Vlijmen-Willems IM, de Jongh GJ, Yamamoto K, Nishi K, Watts C, Reinheckel T, Schalkwijk J, Zeeuwen PL. Cheng T, et al. J Biol Chem. 2006 Jun 9;281(23):15893-9. doi: 10.1074/jbc.M600694200. Epub 2006 Mar 24. J Biol Chem. 2006. PMID: 16565075 Free article.
85 results