1993
White Mutants in Mice Shedding Light on Humans
Halaban R, Moellmann G. White Mutants in Mice Shedding Light on Humans. Journal Of Investigative Dermatology 1993, 100: s176-s185. DOI: 10.1038/jid.1993.73.Peer-Reviewed Original ResearchMembrane receptor tyrosine kinasesMouse mutant modelsPink-eyed dilutionDefective signal transductionReceptor kinase activityEnzyme activityC-kitDistinct enzyme activitiesIdentification of mutationsRespective enzyme activitiesPiebald phenotypeShares homologyLocus proteinSignal transductionKinase activityCatalase BMolecular geneticsTyrosine kinaseWhite mutantsMutant modelsHair melanocytesPoint mutationsTyrosinase-negative albinismNormal pigmentationProliferation of melanocytesWhite mutants in mice shedding light on humans.
Halaban R, Moellmann G. White mutants in mice shedding light on humans. Journal Of Investigative Dermatology 1993, 100: 176s-185s. PMID: 8433006, DOI: 10.1038/jid.1993.10.Peer-Reviewed Original ResearchConceptsMembrane receptor tyrosine kinasesMouse mutant modelsPink-eyed dilutionDefective signal transductionReceptor kinase activityEnzyme activityC-kitDistinct enzyme activitiesIdentification of mutationsRespective enzyme activitiesPiebald phenotypeShares homologyLocus proteinSignal transductionKinase activityCatalase BMolecular geneticsTyrosine kinaseWhite mutantsMutant modelsHair melanocytesDopachrome tautomerasePoint mutationsTyrosinase-negative albinismNormal pigmentation
1990
Murine and human b locus pigmentation genes encode a glycoprotein (gp75) with catalase activity.
Halaban R, Moellmann G. Murine and human b locus pigmentation genes encode a glycoprotein (gp75) with catalase activity. Proceedings Of The National Academy Of Sciences Of The United States Of America 1990, 87: 4809-4813. PMID: 1693779, PMCID: PMC54207, DOI: 10.1073/pnas.87.12.4809.Peer-Reviewed Original ResearchConceptsPigmentation genesRapid proteolytic degradationMelanosomal glycoproteinLocus proteinBrown locusCatalase BB mutationsProteolytic degradationB locusMelanogenic activityGenesMelanin precursorsLociProteinMutationsGlycoproteinCatalase activityTyrosinaseHydrogen peroxideHydroperoxidaseMelanogenesisGp75ActivityMurinePigmentation