Albinism-Causing Mutations in Recombinant Human Tyrosinase Alter Intrinsic Enzymatic Activity

BACKGROUND: Tyrosinase (TYR) catalyzes the rate-limiting, first step in melanin production and its gene (TYR) is mutated in many cases of oculocutaneous albinism (OCA1), an autosomal recessive cause of childhood blindness. Patients with reduced TYR activity are classified as OCA1B; some OCA1B mutati...

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Detalles Bibliográficos
Autores principales: Dolinska, Monika B., Kovaleva, Elena, Backlund, Peter, Wingfield, Paul T., Brooks, Brian P., Sergeev, Yuri V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3879332/
https://www.ncbi.nlm.nih.gov/pubmed/24392141
http://dx.doi.org/10.1371/journal.pone.0084494

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3879332/
https://www.ncbi.nlm.nih.gov/pubmed/24392141
http://dx.doi.org/10.1371/journal.pone.0084494

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