Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester Syndrome
In: American Journal of Human Genetics, Jg. 91 (2012-09-07), Heft 3, S. 572-576
Online
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Zugriff:
Cultured fibroblast from the proband was used to identify homozygous mutations in membrane type-1 metalloproteinase (MT1-MMP or MMP14) responsible for causing the multicentric osteolysis and arthritis disease Winchester Syndrome. The study proposed a structure-based mechanism to elucidate the effect of hydrophobic-region signal-peptide substitution (p.Thr17Arg) which decreases MT1-MMP membrane localization with consequent impairment of pro-MMP2 activation.
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Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester Syndrome
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Autor/in / Beteiligte Person: | Evans, Brad R. ; Lobl, Mollie ; Mosig, Rebecca A. ; Martignetti, Chiara R. |
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Zeitschrift: | American Journal of Human Genetics, Jg. 91 (2012-09-07), Heft 3, S. 572-576 |
Veröffentlichung: | 2012 |
Medientyp: | academicJournal |
ISSN: | 0002-9297 (print) |
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