Article
Albinism-causing mutations in recombinant human tyrosinase alter intrinsic enzymatic activity.
PloS one - 1 Jan 2014
Dolinska Monika B, Kovaleva Elena, Backlund Peter, Wingfield Paul T, Brooks Brian P, Sergeev Yuri V
Abstract excerpt
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 mutations are temperature-sensitive. Therapeutic research for OCA1 has been hampered, in part, by the absence of purified,...
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