The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6

Accumulation of intermediates of haem biosynthesis, porphyrins, is harmful and usually inherited, but it is unclear how the same mutation may make some individuals more ill than others. Here, the authors show that a porphyrin transporter ABCB6 is a modulator of porphyria, and that patients with func...

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Autores principales:	Yu Fukuda, Pak Leng Cheong, John Lynch, Cheryl Brighton, Sharon Frase, Vasileios Kargas, Evadnie Rampersaud, Yao Wang, Vijay G. Sankaran, Bing Yu, Paul A. Ney, Mitchell J. Weiss, Peter Vogel, Peter J. Bond, Robert C. Ford, Ronald J. Trent, John D. Schuetz
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2016
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/f70f19a560514d38b6084532b9be685d
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spelling	oai:doaj.org-article:f70f19a560514d38b6084532b9be685d2021-12-02T14:39:32ZThe severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB610.1038/ncomms123532041-1723https://doaj.org/article/f70f19a560514d38b6084532b9be685d2016-08-01T00:00:00Zhttps://doi.org/10.1038/ncomms12353https://doaj.org/toc/2041-1723Accumulation of intermediates of haem biosynthesis, porphyrins, is harmful and usually inherited, but it is unclear how the same mutation may make some individuals more ill than others. Here, the authors show that a porphyrin transporter ABCB6 is a modulator of porphyria, and that patients with functionally defective ABCB6 show more severe symptoms.Yu FukudaPak Leng CheongJohn LynchCheryl BrightonSharon FraseVasileios KargasEvadnie RampersaudYao WangVijay G. SankaranBing YuPaul A. NeyMitchell J. WeissPeter VogelPeter J. BondRobert C. FordRonald J. TrentJohn D. SchuetzNature PortfolioarticleScienceQENNature Communications, Vol 7, Iss 1, Pp 1-9 (2016)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Yu Fukuda Pak Leng Cheong John Lynch Cheryl Brighton Sharon Frase Vasileios Kargas Evadnie Rampersaud Yao Wang Vijay G. Sankaran Bing Yu Paul A. Ney Mitchell J. Weiss Peter Vogel Peter J. Bond Robert C. Ford Ronald J. Trent John D. Schuetz The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6
description	Accumulation of intermediates of haem biosynthesis, porphyrins, is harmful and usually inherited, but it is unclear how the same mutation may make some individuals more ill than others. Here, the authors show that a porphyrin transporter ABCB6 is a modulator of porphyria, and that patients with functionally defective ABCB6 show more severe symptoms.
format	article
author	Yu Fukuda Pak Leng Cheong John Lynch Cheryl Brighton Sharon Frase Vasileios Kargas Evadnie Rampersaud Yao Wang Vijay G. Sankaran Bing Yu Paul A. Ney Mitchell J. Weiss Peter Vogel Peter J. Bond Robert C. Ford Ronald J. Trent John D. Schuetz
author_facet	Yu Fukuda Pak Leng Cheong John Lynch Cheryl Brighton Sharon Frase Vasileios Kargas Evadnie Rampersaud Yao Wang Vijay G. Sankaran Bing Yu Paul A. Ney Mitchell J. Weiss Peter Vogel Peter J. Bond Robert C. Ford Ronald J. Trent John D. Schuetz
author_sort	Yu Fukuda
title	The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6
title_short	The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6
title_full	The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6
title_fullStr	The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6
title_full_unstemmed	The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6
title_sort	severity of hereditary porphyria is modulated by the porphyrin exporter and lan antigen abcb6
publisher	Nature Portfolio
publishDate	2016
url	https://doaj.org/article/f70f19a560514d38b6084532b9be685d
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The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6

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