دورية أكاديمية
ADAM19 cleaves the PTH receptor and associates with brachydactyly type E.
العنوان: | ADAM19 cleaves the PTH receptor and associates with brachydactyly type E. |
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المؤلفون: | Aydin A; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.; https://ror.org/001w7jn25 Experimental and Clinical Research Center, A Cooperation Between the Max Delbrück Center for Molecular Medicine in the Helmholtz Association and Charité Universitätsmedizin, Berlin, Germany., Klenk C; Institute of Pharmacology and Toxicology, University of Würzburg, Würzburg, Germany., Nemec K; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.; Institute of Pharmacology and Toxicology, University of Würzburg, Würzburg, Germany.; Department of Structural Biology and Center of Excellence for Data-Driven Discovery, St. Jude Children's Research Hospital, Memphis, TN, USA., Işbilir A; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.; Institute of Pharmacology and Toxicology, University of Würzburg, Würzburg, Germany., Martin LM; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany., Zauber H; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany., Rrustemi T; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany., Toka HR; https://ror.org/001w7jn25 Experimental and Clinical Research Center, A Cooperation Between the Max Delbrück Center for Molecular Medicine in the Helmholtz Association and Charité Universitätsmedizin, Berlin, Germany., Schuster H; https://ror.org/001w7jn25 Experimental and Clinical Research Center, A Cooperation Between the Max Delbrück Center for Molecular Medicine in the Helmholtz Association and Charité Universitätsmedizin, Berlin, Germany., Gong M; https://ror.org/001w7jn25 Experimental and Clinical Research Center, A Cooperation Between the Max Delbrück Center for Molecular Medicine in the Helmholtz Association and Charité Universitätsmedizin, Berlin, Germany., Stricker S; Institute of Chemistry and Biochemistry, Freie Universität Berlin, Berlin, Germany., Bock A; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.; Rudolf-Boehm-Institute of Pharmacology and Toxicology, Medical Faculty, University of Leipzig, Leipzig, Germany., Bähring S; https://ror.org/001w7jn25 Experimental and Clinical Research Center, A Cooperation Between the Max Delbrück Center for Molecular Medicine in the Helmholtz Association and Charité Universitätsmedizin, Berlin, Germany., Selbach M; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany., Lohse MJ; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.; ISAR Bioscience Institute, Munich, Germany., Luft FC; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany friedrich.luft@charite.de.; https://ror.org/001w7jn25 Experimental and Clinical Research Center, A Cooperation Between the Max Delbrück Center for Molecular Medicine in the Helmholtz Association and Charité Universitätsmedizin, Berlin, Germany. |
المصدر: | Life science alliance [Life Sci Alliance] 2024 Feb 08; Vol. 7 (4). Date of Electronic Publication: 2024 Feb 08 (Print Publication: 2024). |
نوع المنشور: | Journal Article |
اللغة: | English |
بيانات الدورية: | Publisher: Life Science Alliance, LLC Country of Publication: United States NLM ID: 101728869 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2575-1077 (Electronic) Linking ISSN: 25751077 NLM ISO Abbreviation: Life Sci Alliance Subsets: MEDLINE |
أسماء مطبوعة: | Original Publication: [Woodbury, NY] : Life Science Alliance, LLC, [2018]- |
مواضيع طبية MeSH: | Parathyroid Hormone-Related Protein*/genetics , Brachydactyly*/genetics, Humans ; Receptor, Parathyroid Hormone, Type 1/genetics ; Receptor, Parathyroid Hormone, Type 1/metabolism ; Metalloproteases ; ADAM Proteins |
مستخلص: | Brachydactyly type E (BDE), shortened metacarpals, metatarsals, cone-shaped epiphyses, and short stature commonly occurs as a sole phenotype. Parathyroid hormone-like protein (PTHrP) has been shown to be responsible in all forms to date, either directly or indirectly. We used linkage and then whole genome sequencing in a small pedigree, to elucidate BDE and identified a truncated disintegrin-and-metalloproteinase-19 (ADAM19) allele in all affected family members, but not in nonaffected persons. Since we had shown earlier that the extracellular domain of the parathyroid hormone receptor (PTHR1) is subject to an unidentified metalloproteinase cleavage, we tested the hypothesis that ADAM19 is a sheddase for PTHR1. WT ADAM19 cleaved PTHR1, while mutated ADAM-19 did not. We mapped the cleavage site that we verified with mass spectrometry between amino acids 64-65. ADAM-19 cleavage increased G (© 2024 Aydin et al.) |
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سلسلة جزيئية: | PDB 6fj3; 7vvl |
المشرفين على المادة: | 0 (Parathyroid Hormone-Related Protein) 0 (Receptor, Parathyroid Hormone, Type 1) EC 3.4.- (Metalloproteases) EC 3.4.24.- (ADAM19 protein, human) EC 3.4.24.- (ADAM Proteins) |
SCR Disease Name: | Brachydactyly, Type E |
تواريخ الأحداث: | Date Created: 20240208 Date Completed: 20240214 Latest Revision: 20240214 |
رمز التحديث: | 20240214 |
مُعرف محوري في PubMed: | PMC10853454 |
DOI: | 10.26508/lsa.202302400 |
PMID: | 38331475 |
قاعدة البيانات: | MEDLINE |
تدمد: | 2575-1077 |
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DOI: | 10.26508/lsa.202302400 |