Mislocalization of Melanosomal Proteins in Melanocytes from Mice with Oculocutaneous Albinism Type 2

The Metabolic Basis of Inherited Disease.

1988 • 7,933 citations

A formaldehyde - glutaraldehyde fixative of high osmolarity for use in electron microscopy

1965 • 5,954 citations

Homozygous disruption of the murine MDR2 P-glycoprotein gene leads to a complete absence of phospholipid from bile and to liver disease

1993 • 1,437 citations

The metabolic basis of inherited disease

1995 • 1,007 citations

Mammalian Tyrosinase Catalyzes Three Reactions in the Biosynthesis of Melanin

1982 • 574 citations

Identification of two lysosomal membrane glycoproteins.

1985 • 475 citations

A line of non‐tumorigenic mouse melanocytes, syngeneic with the B16 melanoma and requiring a tumour promoter for growth

1987 • 475 citations

A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism

1993 • 411 citations

SUBCELLULAR LOCALIZATION OF MELANIN BIOSYNTHESIS

1963 • 390 citations

Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

1982 • 364 citations

Regulation of tyrosinase in human melanocytes grown in culture.

1983 • 288 citations

Accumulation of membrane glycoproteins in lysosomes requires a tyrosine residue at a particular position in the cytoplasmic tail.

1990 • 272 citations

Melanosomes Are Specialized Members of the Lysosomal Lineage of Organelles

1995 • 270 citations

Aberrant retention of tyrosinase in the endoplasmic reticulum mediates accelerated degradation of the enzyme and contributes to the dedifferentiated phenotype of amelanotic melanoma cells

1997 • 255 citations

A cDNA encoding tyrosinase-related protein maps to the brown locus in mouse.

1988 • 247 citations

Tyrosinases from two different loci are expressed by normal and by transformed melanocytes.

1991 • 233 citations

The Mouse Pink-Eyed Dilution Gene: Association with Human Prader-Willi and Angelman Syndromes

1992 • 231 citations

Regulation of biliary lipid secretion by mdr2 P-glycoprotein in the mouse.

1995 • 217 citations

Organization and sequence of the human P gene and identification of a new family of transport proteins

1995 • 197 citations

Kinetics of intracellular transport and sorting of lysosomal membrane and plasma membrane proteins.

1987 • 197 citations

Lysosomal acid phosphatase is transported to lysosomes via the cell surface.

1989 • 189 citations

Targeting of a lysosomal membrane protein: a tyrosine-containing endocytosis signal in the cytoplasmic tail of lysosomal acid phosphatase is necessary and sufficient for targeting to lysosomes.

1990 • 185 citations

Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism

2000 • 179 citations

Albinism and skin cancer in Southern Africa

1989 • 174 citations

Aberrant pH of Melanosomes in Pink-Eyed Dilution (p) Mutant Melanocytes

2000 • 167 citations

Albinism

1985 • 167 citations

Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene.

1994 • 144 citations

Mannose 6-phosphate-independent targeting of lysosomal enzymes in I-cell disease B lymphoblasts.

1993 • 144 citations

High-Molecular-Weight Forms of Tyrosinase and the Tyrosinase-Related Proteins: Evidence for a Melanogenic Complex

1994 • 143 citations

Genetic Variations in the Fine Structure and Ontogeny of Mouse Melanin Granules.

1966 • 141 citations

Mutational mapping of the catalytic activities of human tyrosinase.

1992 • 139 citations

Possible involvement of proteolytic degradation of tyrosinase in the regulatory effect of fatty acids on melanogenesis

1999 • 136 citations

Circulation of Cholesterol between Lysosomes and the Plasma Membrane

1998 • 136 citations

Abnormal central visual pathways in the brain of an albino green monkey (Cercopithecus aethiops)

1984 • 134 citations

Complementation of Hypopigmentation in p-Mutant (Pink-Eyed Dilution) Mouse Melanocytes by Normal Human P cDNA, and Defective Complementation by OCA2 Mutant Sequences

1997 • 123 citations

Subcellular Distribution of Tyrosinase and Tyrosinase-Related Protein-1: Implications for Melanosomal Biogenesis

1993 • 120 citations

A Common Temperature-sensitive Allelic Form of Human Tyrosinase Is Retained in the Endoplasmic Reticulum at the Nonpermissive Temperature

2000 • 120 citations

The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12.

1992 • 120 citations

A Cytoplasmic Sequence in Human Tyrosinase Defines a Second Class of Di-leucine-based Sorting Signals for Late Endosomal and Lysosomal Delivery

1999 • 119 citations

Tyrosinase Activity in Melanocytes of Human Albinos11From the Dermatology Service, General Medicine Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, Public Health Service, U. S. Department of Health, Education and Welfare.

1961 • 110 citations

L-Tyrosine-3, 5- ³ H Assay for Tyrosinase Development in Skin of Newborn Hamsters

1969 • 104 citations

pH of Melanosomes of B 16 Murine Melanoma Is Acidic: Its Physiological Importance in the Regulation of Melanin Biosynthesis

1993 • 104 citations

Lysosomal Hydrolases Are Present in Melanosomes and Are Elevated in Melanizing Cells

1995 • 100 citations

LYSOSOMAL DYSFUNCTIONS ASSOCIATED WITH MUTATIONS AT MOUSE PIGMENT GENES

1979 • 97 citations

Sorting of Lysosomal Membrane Glycoproteins lamp-1 and lamp-2 into Vesicles Distinct from Mannose 6-Phosphate Receptor/γ-Adaptin Vesicles at the trans-Golgi Network

1998 • 97 citations

Tyrosinases of murine melanocytes with mutations at the albino locus.

1988 • 88 citations

Proper Folding and Endoplasmic Reticulum to Golgi Transport of Tyrosinase Are Induced by Its Substrates, DOPA and Tyrosine

2001 • 87 citations

Tyrosinase Folding and Copper Loading in Vivo: A Crucial Role for Calnexin and α-Glucosidase II

1999 • 84 citations

The lysosomal membrane glycoprotein lamp-1 is transported to lysosomes by two alternative pathways

1992 • 83 citations

On the analysis of the pathophysiology of Chediak-Higashi syndrome. Defects expressed by cultured melanocytes.

1994 • 81 citations

Evidence for both prelysosomal and lysosomal intermediates in endocytic pathways.

1984 • 81 citations

A QUANTITATIVE HISTOLOGICAL STUDY OF THE PIGMENT FOUND IN THE COAT-COLOR MUTANTS OF THE HOUSE MOUSE. IV. THE NATURE OF THE EFFECTS OF GENIC SUBSTITUTION IN FIVE MAJOR ALLELIC SERIES

1949 • 80 citations

Mannose 6-phosphate/insulin like growth factor II receptor: The two types of ligands bind simultaneously to one receptor at different sites

1988 • 77 citations

Sorting and Targeting of Melanosomal Membrane Proteins: Signals, Pathways, and Mechanisms

2000 • 73 citations

Comparative Analysis of Melanins and Melanosomes Produced by Various Coat Color Mutants

1995 • 72 citations

Promotion of Tyrosinase Folding in Cos 7 Cells by Calnexin

1999 • 69 citations

Pink-eyed dilution (p) gene in rodents: Increased pigmentation in tissue culture

1965 • 67 citations

The Pinkeyed‐Dilution Protein and the Eumelanin/Pheomelanin Switch: In Support of a Unifying Hypothesis

1995 • 64 citations

The Locus Controls the Biogenesis of Melanosomes and Levels of Melanosomal Proteins in the Eye

1999 • 62 citations

A kinetic analysis of biosynthesis and localization of a lysosome-associated membrane glycoprotein

1986 • 61 citations

Melanin and the Regulation of Mammalian Photoreceptor Topography

1994 • 60 citations

Normal Tyrosine Transport and Abnormal Tyrosinase Routing inPink-Eyed DilutionMelanocytes

1998 • 56 citations

Lysosome-Associated Membrane Protein-1 (LAMP-1) Is the Melanocyte Vesicular Membrane Glycoprotein Band II

1993 • 55 citations

Altered protein localization in melanocytes from Hermansky-Pudlak syndrome: support for the role of the HPS gene product in intracellular trafficking.

1998 • 54 citations

Melanosomal Defects in Melanocytes from Mice Lacking Expression of thePink-Eyed DilutionGene: Correction by Culture in the Presence of Excess Tyrosine

1998 • 53 citations

Melanosomal Tyrosine Transport in Normal and Pink‐eyed Dilution Murine Melanocytes

1995 • 52 citations

Attempts to Transfer Eczematous Contact-Type Allergy with Whole Blood Transfusions**From the Department of Dermatology and Syphilology, New York University Post-Graduate Medical School (Dr. Marion B. Sulzberger, Chairman) and the Skin and Cancer Unit of the University Hospital, New York, N. Y.This study was supported by a grant from the United States Public Health Service (E-1361-(C4)).Presented at the Twenty-first Annual Meeting of The Society for Investigative Dermatology, Inc., Miami Beach, …

1961 • 49 citations

Melanogenic Regulatory Factors in Coated Vesicles from Melanoma Cells

1989 • 48 citations

Levels of tyrosinase and its mRNA in coat‐color mutants of C57Bl/10J congenic mice: Effects of genic substitution at the agouti, brown, albino, dilute, and pink‐eyed dilution loci

1989 • 47 citations

Causes of visual impairment among students at the Alabama School for the Blind.

1999 • 44 citations

Characterization of a Melanosomal Transport System in Murine Melanocytes Mediating Entry of the Melanogenic Substrate Tyrosine

1996 • 43 citations

Genetic controls over melanocyte differentiation: Interaction of agouti‐locus and albino‐locus genetic defects

1987 • 43 citations

Misrouting of tyrosinase with a truncated cytoplasmic tail as a result of the murine platinum (cp) mutation

1995 • 40 citations

Cotransfection of Genes Encoding Human Tyrosinase and Tyrosinase-Related Protein-1 Prevents Melanocyte Death and Enhances Melanin Pigmentation and Gene Expression of Lamp-1

1994 • 38 citations

Postnatal Ocular Expression of Tyrosinase and Related Proteins: Disruption by the Pink-eyed Unstable (p) Mutation

1993 • 33 citations

Genetic effects on fine structure and development of pigment granules in mouse hair bulb melanocytes

1968 • 32 citations

The Pink‐Eyed Dilution Gene and the Molecular Pathogenesis of Tyrosinase‐Positive Albinism (OCA2)

1999 • 17 citations

Developments in eye and general diseases in the Landesschule für Blinde und Sehbehinderte des Saarlandes in the last 20 years

1998 • 15 citations

Electron microscopic DOPA reaction test for oculocutaneous albinism

2000 • 10 citations

Dopachrome conversion and dopa oxidase activities in recessive yellow mice: Catalytic activities of extracts from pheomelanic and eumelanic tissues

1986 • 10 citations

Proteolysis with trypsin of mammalian tyrosinase isoforms from B16 mouse melanoma

1992 • 9 citations