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Missense mutations of dual oxidase 2 (Duox2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with Duox2 maturation factor

par Grasberger, Helmut;De Deken, Xavier ;Miot, Françoise ;Pohlenz, Joachim;Refetoff, Samuel
Référence Molecular Endocrinology, 21, 6, page (1408-1421)
Publication Publié, 2007

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Titre:	Missense mutations of dual oxidase 2 (Duox2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with Duox2 maturation factor
Auteur:	Grasberger, Helmut; De Deken, Xavier; Miot, Françoise; Pohlenz, Joachim; Refetoff, Samuel
Informations sur la publication:	Molecular Endocrinology, 21, 6, page (1408-1421)
Statut de publication:	Publié, 2007
Sujet CREF:	Biologie moléculaire
MeSH keywords:	Animals
	Cell Membrane -- enzymology
	Cells, Cultured
	Congenital Hypothyroidism -- enzymology
	Congenital Hypothyroidism -- genetics
	Endoplasmic Reticulum -- enzymology
	Flavoproteins -- chemistry
	Flavoproteins -- genetics
	Flavoproteins -- metabolism
	Humans
	Hydrogen Peroxide -- metabolism
	Mannosyl-Glycoprotein Endo-beta-N-Acetylglucosaminidase -- chemistry
	Membrane Proteins -- chemistry
	Membrane Proteins -- metabolism
	Mutation, Missense
	NADPH Oxidase -- chemistry
	NADPH Oxidase -- genetics
	NADPH Oxidase -- metabolism
	Oxidation-Reduction
	Polysaccharides -- chemistry
	Protein Folding
	Protein Transport
	Rats
Note générale:	Journal Article
	Research Support, N.I.H., Extramural
	SCOPUS: ar.j
Langue:	Anglais
Identificateurs:	urn:issn:0888-8809
	info:doi/10.1210/me.2007-0018
	info:pii/me.2007-0018
	info:scp/34250842260
	info:pmid/17374849
	xdd-0002