Article
Mutations in or near the transmembrane domain alter PMEL amyloid formation from functional to pathogenic.
PLoS genetics - 1 Sept 2011
Watt Brenda, Tenza Danièle, Lemmon Mark A, Kerje Susanne, Raposo Graça, Andersson Leif, Marks Michael S
Abstract excerpt
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 manner, PMEL alleles found in the Dominant white (DW) chicken and Silver horse (HoSi)--which bear mutations that alter...
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