MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

Osteogenesis imperfecta (OI) is genetically linked to autosomal dominant or autosomal recessive mutations. Here, Marini et al. describe two families with X-chromosome-linked OI with mutations in MBTPS2 that alter regulated intramembrane proteolysis and subsequent defects in collagen crosslinking and...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Uschi Lindert, Wayne A. Cabral, Surasawadee Ausavarat, Siraprapa Tongkobpetch, Katja Ludin, Aileen M. Barnes, Patra Yeetong, Maryann Weis, Birgit Krabichler, Chalurmpon Srichomthong, Elena N. Makareeva, Andreas R. Janecke, Sergey Leikin, Benno Röthlisberger, Marianne Rohrbach, Ingo Kennerknecht, David R. Eyre, Kanya Suphapeetiporn, Cecilia Giunta, Joan C. Marini, Vorasuk Shotelersuk
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2016
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/a84048b3358e400b90b24ee8963af381
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:a84048b3358e400b90b24ee8963af381
record_format	dspace
spelling	oai:doaj.org-article:a84048b3358e400b90b24ee8963af3812021-12-02T14:38:34ZMBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta10.1038/ncomms119202041-1723https://doaj.org/article/a84048b3358e400b90b24ee8963af3812016-07-01T00:00:00Zhttps://doi.org/10.1038/ncomms11920https://doaj.org/toc/2041-1723Osteogenesis imperfecta (OI) is genetically linked to autosomal dominant or autosomal recessive mutations. Here, Marini et al. describe two families with X-chromosome-linked OI with mutations in MBTPS2 that alter regulated intramembrane proteolysis and subsequent defects in collagen crosslinking and osteoblast function.Uschi LindertWayne A. CabralSurasawadee AusavaratSiraprapa TongkobpetchKatja LudinAileen M. BarnesPatra YeetongMaryann WeisBirgit KrabichlerChalurmpon SrichomthongElena N. MakareevaAndreas R. JaneckeSergey LeikinBenno RöthlisbergerMarianne RohrbachIngo KennerknechtDavid R. EyreKanya SuphapeetipornCecilia GiuntaJoan C. MariniVorasuk ShotelersukNature PortfolioarticleScienceQENNature Communications, Vol 7, Iss 1, Pp 1-12 (2016)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Uschi Lindert Wayne A. Cabral Surasawadee Ausavarat Siraprapa Tongkobpetch Katja Ludin Aileen M. Barnes Patra Yeetong Maryann Weis Birgit Krabichler Chalurmpon Srichomthong Elena N. Makareeva Andreas R. Janecke Sergey Leikin Benno Röthlisberger Marianne Rohrbach Ingo Kennerknecht David R. Eyre Kanya Suphapeetiporn Cecilia Giunta Joan C. Marini Vorasuk Shotelersuk MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta
description	Osteogenesis imperfecta (OI) is genetically linked to autosomal dominant or autosomal recessive mutations. Here, Marini et al. describe two families with X-chromosome-linked OI with mutations in MBTPS2 that alter regulated intramembrane proteolysis and subsequent defects in collagen crosslinking and osteoblast function.
format	article
author	Uschi Lindert Wayne A. Cabral Surasawadee Ausavarat Siraprapa Tongkobpetch Katja Ludin Aileen M. Barnes Patra Yeetong Maryann Weis Birgit Krabichler Chalurmpon Srichomthong Elena N. Makareeva Andreas R. Janecke Sergey Leikin Benno Röthlisberger Marianne Rohrbach Ingo Kennerknecht David R. Eyre Kanya Suphapeetiporn Cecilia Giunta Joan C. Marini Vorasuk Shotelersuk
author_facet	Uschi Lindert Wayne A. Cabral Surasawadee Ausavarat Siraprapa Tongkobpetch Katja Ludin Aileen M. Barnes Patra Yeetong Maryann Weis Birgit Krabichler Chalurmpon Srichomthong Elena N. Makareeva Andreas R. Janecke Sergey Leikin Benno Röthlisberger Marianne Rohrbach Ingo Kennerknecht David R. Eyre Kanya Suphapeetiporn Cecilia Giunta Joan C. Marini Vorasuk Shotelersuk
author_sort	Uschi Lindert
title	MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta
title_short	MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta
title_full	MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta
title_fullStr	MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta
title_full_unstemmed	MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta
title_sort	mbtps2 mutations cause defective regulated intramembrane proteolysis in x-linked osteogenesis imperfecta
publisher	Nature Portfolio
publishDate	2016
url	https://doaj.org/article/a84048b3358e400b90b24ee8963af381
work_keys_str_mv	AT uschilindert mbtps2mutationscausedefectiveregulatedintramembraneproteolysisinxlinkedosteogenesisimperfecta AT wayneacabral mbtps2mutationscausedefectiveregulatedintramembraneproteolysisinxlinkedosteogenesisimperfecta AT surasawadeeausavarat mbtps2mutationscausedefectiveregulatedintramembraneproteolysisinxlinkedosteogenesisimperfecta AT siraprapatongkobpetch mbtps2mutationscausedefectiveregulatedintramembraneproteolysisinxlinkedosteogenesisimperfecta AT katjaludin mbtps2mutationscausedefectiveregulatedintramembraneproteolysisinxlinkedosteogenesisimperfecta AT aileenmbarnes mbtps2mutationscausedefectiveregulatedintramembraneproteolysisinxlinkedosteogenesisimperfecta AT patrayeetong mbtps2mutationscausedefectiveregulatedintramembraneproteolysisinxlinkedosteogenesisimperfecta AT maryannweis mbtps2mutationscausedefectiveregulatedintramembraneproteolysisinxlinkedosteogenesisimperfecta AT birgitkrabichler mbtps2mutationscausedefectiveregulatedintramembraneproteolysisinxlinkedosteogenesisimperfecta AT chalurmponsrichomthong mbtps2mutationscausedefectiveregulatedintramembraneproteolysisinxlinkedosteogenesisimperfecta AT elenanmakareeva mbtps2mutationscausedefectiveregulatedintramembraneproteolysisinxlinkedosteogenesisimperfecta AT andreasrjanecke mbtps2mutationscausedefectiveregulatedintramembraneproteolysisinxlinkedosteogenesisimperfecta AT sergeyleikin mbtps2mutationscausedefectiveregulatedintramembraneproteolysisinxlinkedosteogenesisimperfecta AT bennorothlisberger mbtps2mutationscausedefectiveregulatedintramembraneproteolysisinxlinkedosteogenesisimperfecta AT mariannerohrbach mbtps2mutationscausedefectiveregulatedintramembraneproteolysisinxlinkedosteogenesisimperfecta AT ingokennerknecht mbtps2mutationscausedefectiveregulatedintramembraneproteolysisinxlinkedosteogenesisimperfecta AT davidreyre mbtps2mutationscausedefectiveregulatedintramembraneproteolysisinxlinkedosteogenesisimperfecta AT kanyasuphapeetiporn mbtps2mutationscausedefectiveregulatedintramembraneproteolysisinxlinkedosteogenesisimperfecta AT ceciliagiunta mbtps2mutationscausedefectiveregulatedintramembraneproteolysisinxlinkedosteogenesisimperfecta AT joancmarini mbtps2mutationscausedefectiveregulatedintramembraneproteolysisinxlinkedosteogenesisimperfecta AT vorasukshotelersuk mbtps2mutationscausedefectiveregulatedintramembraneproteolysisinxlinkedosteogenesisimperfecta
_version_	1718390970173620224

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

Ejemplares similares