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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Main Authors: Watt, Brenda, Tenza, Danièle, Lemmon, Mark A., Kerje, Susanne, Raposo, Graça, Andersson, Leif, Marks, Michael S.
Formáid: Artigo
Teanga:Inglês
Foilsithe: Public Library of Science 2011
Ábhair:
Research Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3174235/
https://ncbi.nlm.nih.gov/pubmed/21949659
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1002286
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