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Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical regionCloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosomeA new standard nomenclature for proteins related to Apx and ShroomDefective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North AmericaAnalysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinismThe ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cellsSignaling pathways in melanosome biogenesis and pathologyAmino acid starvation induces reactivation of silenced transgenes and latent HIV-1 provirus via down-regulation of histone deacetylase 4 (HDAC4)Passport control for foreign integrated DNAs: An unexpected checkpoint by class II HDAC4 revealed by amino acid starvation.Organelle biogenesis and interorganellar connections: Better in contact than in isolation.Lipid transfer and metabolism across the endolysosomal-mitochondrial boundary.Melanosome-autonomous regulation of size and number: the OA1 receptor sustains PMEL expression.Expression of OA1 limits the fusion of a subset of MVBs with lysosomes - a mechanism potentially involved in the initial biogenesis of melanosomes.Effective retrovirus-mediated gene transfer in normal and mutant human melanocytes.Repeated transmission of X-linked ocular albinism type 1 by a carrier oocyte donor.Heterotrimeric G proteins demonstrate differential sensitivity to beta-arrestin dependent desensitization.A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1)Amino acid deprivation triggers a novel GCN2-independent response leading to the transcriptional reactivation of non-native DNA sequencesMitochondria and Melanosomes Establish Physical Contacts Modulated by Mfn2 and Involved in Organelle BiogenesisOa1 knock-out: new insights on the pathogenesis of ocular albinism type 1.
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description
hulumtuese
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researcher
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wetenschapper
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հետազոտող
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Maria Vittoria Schiaffino
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Maria Vittoria Schiaffino
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Maria Vittoria Schiaffino
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Maria Vittoria Schiaffino
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Maria Vittoria Schiaffino
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Maria Vittoria Schiaffino
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Maria Vittoria Schiaffino
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Maria Vittoria Schiaffino
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Maria Vittoria Schiaffino
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Maria Vittoria Schiaffino
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Vittoria Schiaffino
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Maria Vittoria Schiaffino
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Maria Vittoria Schiaffino
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Maria Vittoria Schiaffino
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Maria Vittoria Schiaffino
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Maria Vittoria Schiaffino
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P31
P496
0000-0001-9744-7025