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Mutations in or near the Transmembrane Domain Alter PMEL Amyloid Formation from Functional to Pathogenic

PMEL is a pigment cell-specific protein that forms physiological amyloid fibrils upon which melanins ultimately deposit in the lumen of the pigment organelle, the melanosome. Whereas hypomorphic PMEL mutations in several species result in a mild pigment dilution that is inherited in a recessive mann...

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Detalles Bibliográficos
Autores principales:	Watt, Brenda, Tenza, Danièle, Lemmon, Mark A., Kerje, Susanne, Raposo, Graça, Andersson, Leif, Marks, Michael S.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2011
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3174235/ https://www.ncbi.nlm.nih.gov/pubmed/21949659 http://dx.doi.org/10.1371/journal.pgen.1002286

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