Published in Blood on July 20, 2004
Rab38 and Rab32 control post-Golgi trafficking of melanogenic enzymes. J Cell Biol (2006) 2.79
Cell-specific ATP7A transport sustains copper-dependent tyrosinase activity in melanosomes. Nature (2008) 2.15
BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles. Mol Biol Cell (2006) 2.11
A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). Am J Hum Genet (2005) 1.68
The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowth. Mol Psychiatry (2009) 1.44
Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells. Proc Natl Acad Sci U S A (2005) 1.28
Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding protein. Biochem J (2006) 1.27
Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1). J Biol Chem (2011) 1.07
Genetic modifiers of abnormal organelle biogenesis in a Drosophila model of BLOC-1 deficiency. Hum Mol Genet (2009) 1.00
The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles. Traffic (2012) 0.92
Mutation in archain 1, a subunit of COPI coatomer complex, causes diluted coat color and Purkinje cell degeneration. PLoS Genet (2010) 0.92
Dysbindin-1, a schizophrenia-related protein, functionally interacts with the DNA- dependent protein kinase complex in an isoform-dependent manner. PLoS One (2009) 0.87
Mutations in the BLOC-1 subunits dysbindin and muted generate divergent and dosage-dependent phenotypes. J Biol Chem (2014) 0.85
Gene dosage in the dysbindin schizophrenia susceptibility network differentially affect synaptic function and plasticity. J Neurosci (2015) 0.83
Melanoregulin, product of the dsu locus, links the BLOC-pathway and OA1 in organelle biogenesis. PLoS One (2012) 0.79
Analysis of novel sph (spherocytosis) alleles in mice reveals allele-specific loss of band 3 and adducin in alpha-spectrin-deficient red cells. Blood (2010) 0.79
The Proteome of BLOC-1 Genetic Defects Identifies the Arp2/3 Actin Polymerization Complex to Function Downstream of the Schizophrenia Susceptibility Factor Dysbindin at the Synapse. J Neurosci (2016) 0.76
Discovery Genetics - The History and Future of Spontaneous Mutation Research. Curr Protoc Mouse Biol (2012) 0.76
The BLOC-1 Subunit Pallidin Facilitates Activity-Dependent Synaptic Vesicle Recycling. eNeuro (2017) 0.75
Imaging intracellular fluorescent proteins at nanometer resolution. Science (2006) 38.97
Zika virus outbreak on Yap Island, Federated States of Micronesia. N Engl J Med (2009) 17.89
Genetic and serologic properties of Zika virus associated with an epidemic, Yap State, Micronesia, 2007. Emerg Infect Dis (2008) 12.72
NT5E mutations and arterial calcifications. N Engl J Med (2011) 8.71
Phenotype and course of Hutchinson-Gilford progeria syndrome. N Engl J Med (2008) 5.34
Natural history of alkaptonuria. N Engl J Med (2002) 5.32
An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N Engl J Med (2009) 4.97
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N Engl J Med (2009) 4.96
Platelet polyphosphates are proinflammatory and procoagulant mediators in vivo. Cell (2009) 4.50
Role of the mammalian retromer in sorting of the cation-independent mannose 6-phosphate receptor. J Cell Biol (2004) 4.24
The contribution of VHL substrate binding and HIF1-alpha to the phenotype of VHL loss in renal cell carcinoma. Cancer Cell (2002) 4.13
NALP1 in vitiligo-associated multiple autoimmune disease. N Engl J Med (2007) 3.99
Chikungunya virus in US travelers returning from India, 2006. Emerg Infect Dis (2007) 3.87
The color loci of mice--a genetic century. Pigment Cell Res (2003) 3.47
A tubular EHD1-containing compartment involved in the recycling of major histocompatibility complex class I molecules to the plasma membrane. EMBO J (2002) 3.35
Aging in inbred strains of mice: study design and interim report on median lifespans and circulating IGF1 levels. Aging Cell (2009) 3.16
Epidemiology of vitiligo and associated autoimmune diseases in Caucasian probands and their families. Pigment Cell Res (2003) 3.07
Mitoferrin is essential for erythroid iron assimilation. Nature (2006) 2.99
Sorting of lysosomal proteins. Biochim Biophys Acta (2008) 2.86
Structural basis for ubiquitin recognition and autoubiquitination by Rabex-5. Nat Struct Mol Biol (2006) 2.85
Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu Rev Genomics Hum Genet (2008) 2.83
Rab38 and Rab32 control post-Golgi trafficking of melanogenic enzymes. J Cell Biol (2006) 2.79
Circulating fibrocytes as biomarker of prognosis in Hermansky-Pudlak syndrome. Am J Respir Crit Care Med (2014) 2.77
Transcriptional activation of lysosomal exocytosis promotes cellular clearance. Dev Cell (2011) 2.71
Multiple trait measurements in 43 inbred mouse strains capture the phenotypic diversity characteristic of human populations. J Appl Physiol (1985) (2007) 2.70
Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum. Mol Genet Metab (2011) 2.65
Interactions of GGA3 with the ubiquitin sorting machinery. Nat Cell Biol (2004) 2.63
Functions of adaptor protein (AP)-3 and AP-1 in tyrosinase sorting from endosomes to melanosomes. Mol Biol Cell (2005) 2.56
Regulation of retromer recruitment to endosomes by sequential action of Rab5 and Rab7. J Cell Biol (2008) 2.56
Genomic screen for vacuolar protein sorting genes in Saccharomyces cerevisiae. Mol Biol Cell (2002) 2.55
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. N Engl J Med (2010) 2.47
Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease. Gastroenterology (2012) 2.33
Notes from the field: Heartland virus disease - United States, 2012-2013. MMWR Morb Mortal Wkly Rep (2014) 2.33
Functional architecture of the retromer cargo-recognition complex. Nature (2007) 2.26
Retracted A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9. Am J Hum Genet (2011) 2.25
Recognition of dileucine-based sorting signals from HIV-1 Nef and LIMP-II by the AP-1 gamma-sigma1 and AP-3 delta-sigma3 hemicomplexes. J Cell Biol (2003) 2.24
A band 3-based macrocomplex of integral and peripheral proteins in the RBC membrane. Blood (2003) 2.24
Cell-specific ATP7A transport sustains copper-dependent tyrosinase activity in melanosomes. Nature (2008) 2.15
BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles. Mol Biol Cell (2006) 2.11
Retro-orbital injections in mice. Lab Anim (NY) (2011) 2.09
The retromer subunit Vps26 has an arrestin fold and binds Vps35 through its C-terminal domain. Nat Struct Mol Biol (2006) 2.09
p16(Ink4a) in melanocyte senescence and differentiation. J Natl Cancer Inst (2002) 2.09
Structural basis for acidic-cluster-dileucine sorting-signal recognition by VHS domains. Nature (2002) 2.09
Interchangeable but essential functions of SNX1 and SNX2 in the association of retromer with endosomes and the trafficking of mannose 6-phosphate receptors. Mol Cell Biol (2006) 2.05
Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. J Clin Invest (2007) 2.04
Long-term follow-up of well-treated nephropathic cystinosis patients. J Pediatr (2004) 2.02
Coatomer-dependent protein delivery to lipid droplets. J Cell Sci (2009) 2.01
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. Blood (2010) 2.00
Role of the endocytic machinery in the sorting of lysosome-associated membrane proteins. Mol Biol Cell (2005) 1.99
Tropomodulin 1-null mice have a mild spherocytic elliptocytosis with appearance of tropomodulin 3 in red blood cells and disruption of the membrane skeleton. Blood (2010) 1.99
Sorting of the Alzheimer's disease amyloid precursor protein mediated by the AP-4 complex. Dev Cell (2010) 1.98
Enthoprotin: a novel clathrin-associated protein identified through subcellular proteomics. J Cell Biol (2002) 1.98
A 3-year randomized therapeutic trial of nitisinone in alkaptonuria. Mol Genet Metab (2011) 1.98
Downregulation of CD4 by human immunodeficiency virus type 1 Nef is dependent on clathrin and involves direct interaction of Nef with the AP2 clathrin adaptor. J Virol (2007) 1.90
Mitochondrial autophagy promotes cellular injury in nephropathic cystinosis. J Am Soc Nephrol (2009) 1.86
Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene. Hum Mol Genet (2003) 1.83
Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia. J Invest Dermatol (2011) 1.82
Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. Nat Genet (2012) 1.81
The retromer complex and clathrin define an early endosomal retrograde exit site. J Cell Sci (2007) 1.80
Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease. Nat Genet (2003) 1.77
Novel method for high-throughput phenotyping of sleep in mice. Physiol Genomics (2006) 1.77
Use of nitisinone in patients with alkaptonuria. Metabolism (2005) 1.70
Morphology and dynamics of clathrin/GGA1-coated carriers budding from the trans-Golgi network. Mol Biol Cell (2003) 1.70
Genetic analyses of adaptin function from yeast to mammals. Gene (2002) 1.70
Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. Hum Genet (2003) 1.69
Phylogeny of Zika Virus in Western Hemisphere, 2015. Emerg Infect Dis (2016) 1.68
The Rab5 guanine nucleotide exchange factor Rabex-5 binds ubiquitin (Ub) and functions as a Ub ligase through an atypical Ub-interacting motif and a zinc finger domain. J Biol Chem (2006) 1.68
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet (2002) 1.67
Comparison of vero cell plaque assay, TaqMan reverse transcriptase polymerase chain reaction RNA assay, and VecTest antigen assay for detection of West Nile virus in field-collected mosquitoes. J Am Mosq Control Assoc (2002) 1.67
Multilayered mechanism of CD4 downregulation by HIV-1 Vpu involving distinct ER retention and ERAD targeting steps. PLoS Pathog (2010) 1.66
Effect of the secretory small GTPase Rab27B on breast cancer growth, invasion, and metastasis. J Natl Cancer Inst (2010) 1.65
Divalent interaction of the GGAs with the Rabaptin-5-Rabex-5 complex. EMBO J (2003) 1.63
PI4P promotes the recruitment of the GGA adaptor proteins to the trans-Golgi network and regulates their recognition of the ubiquitin sorting signal. Mol Biol Cell (2007) 1.63
ARF functions as a melanoma tumor suppressor by inducing p53-independent senescence. Proc Natl Acad Sci U S A (2007) 1.61
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. PLoS Genet (2011) 1.54
Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome. N Engl J Med (2014) 1.53
Absence of erythroblast macrophage protein (Emp) leads to failure of erythroblast nuclear extrusion. J Biol Chem (2006) 1.53
Molecular defects that affect platelet dense granules. Semin Thromb Hemost (2004) 1.52
Regulation of breast cancer cell chemotaxis by the phosphoinositide 3-kinase p110delta. Cancer Res (2003) 1.51
Early disease onset and increased risk of other autoimmune diseases in familial generalized vitiligo. Pigment Cell Res (2005) 1.50
Failure of trafficking and antigen presentation by CD1 in AP-3-deficient cells. Immunity (2002) 1.50