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...

Descripción completa

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

Internet

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

Ejemplares similares