2000
Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism
Halaban R, Svedine S, Cheng E, Smicun Y, Aron R, Hebert D. Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism. Proceedings Of The National Academy Of Sciences Of The United States Of America 2000, 97: 5889-5894. PMID: 10823941, PMCID: PMC18529, DOI: 10.1073/pnas.97.11.5889.Peer-Reviewed Original ResearchMeSH KeywordsAlbinism, OculocutaneousAmino Acid SubstitutionAnimalsCalcium-Binding ProteinsCalnexinCalreticulinCells, CulturedEndoplasmic ReticulumGolgi ApparatusHumansMelanocytesMelanosomesMiceMice, Mutant StrainsMicroscopy, FluorescenceMonophenol MonooxygenasePoint MutationProtein BindingProtein FoldingRecombinant Fusion ProteinsRibonucleoproteinsTransfection
1994
Characterization of Mouse Pmel 17 Gene and Silver Locus
KWON B, KIM K, HALABAN R, PICKARD R. Characterization of Mouse Pmel 17 Gene and Silver Locus. Pigment Cell & Melanoma Research 1994, 7: 394-397. PMID: 7761347, DOI: 10.1111/j.1600-0749.1994.tb00067.x.Peer-Reviewed Original ResearchConceptsCDNA clonesPutative cytoplasmic tailPmel 17Amino acidsC-terminal amino acidsSingle nucleotide insertionSilver locusGenomic regionsCytoplasmic tailCarboxyl terminusC-terminusMurine melanocytesNucleotide insertionMutation sitesProteinClonesGenesTerminusLociMajor defectsMutationsResiduesAcidMelanocytesInsertion
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: 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 peroxideHydroperoxidaseMelanogenesisGp75ActivityMurinePigmentationRecent Advances in the Molecular Biology of Pigmentation: Mouse Models
Halaban R, Moellmann G. Recent Advances in the Molecular Biology of Pigmentation: Mouse Models. Pigment Cell & Melanoma Research 1990, 3: 67-78. PMID: 1409441, DOI: 10.1111/j.1600-0749.1990.tb00352.x.Peer-Reviewed Original Research
1989
Molecular basis of mouse Himalayan mutation
Kwon B, Halaban R, Chintamaneni C. Molecular basis of mouse Himalayan mutation. Biochemical And Biophysical Research Communications 1989, 161: 252-260. PMID: 2567165, DOI: 10.1016/0006-291x(89)91588-x.Peer-Reviewed Original ResearchConceptsAmino acid 420Histidine residuesAmino acidsTemperature-sensitive tyrosinaseCDNA libraryHimalayan miceMouse tyrosinaseInteresting mutantsNucleotide sequenceB proteinMolecular basisTyrosinase geneTyrosinase cDNAArginine residuesTyrosinase moleculesHuman tyrosinaseG changeResiduesMutationsTyrosinaseMutantsCDNAGenesMiceTyrosinase inhibitors