Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity
Author:
Affiliation:
1. National Eye Institute; National Institutes of Health; Bethesda MD USA
2. National Institute of Artritis and Musculoskeletal and Skin Diseases; National Institutes of Health; Bethesda MD USA
Publisher
Wiley
Subject
Dermatology,General Biochemistry, Genetics and Molecular Biology,Oncology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/pcmr.12546/fullpdf
Reference59 articles.
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2. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico;Anikster;Nat. Genet.,2001
3. A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature;Berson;J. Biol. Chem.,2000
4. The structure of a plant tyrosinase from walnut leaves reveals the importance of “Substrate-Guiding Residues” for enzymatic specificity;Bijelic;Angew. Chem. Int. Ed. Engl.,2015
5. Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as “OCA3”;Boissy;Am. J. Hum. Genet.,1996
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