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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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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Public Library of Science
2011
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| Assuntos: | |
| Acceso en liña: | 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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