Abstract
Prominent subtypes of the genetic disorder Hermansky-Pudlak syndrome result from defects in a mysterious protein complex, BLOC-3. New work identifies BLOC-3 as a guanine nucleotide exchange factor for two RAB GTPases previously implicated in lysosome-related organelle biogenesis.
Copyright © 2012 Elsevier Ltd. All rights reserved.
MeSH terms
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Animals
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Cell Line, Tumor
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Gene Expression Regulation
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Guanine Nucleotide Exchange Factors / genetics
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Guanine Nucleotide Exchange Factors / metabolism
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Hermanski-Pudlak Syndrome / genetics
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Hermanski-Pudlak Syndrome / metabolism
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Humans
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Melanocytes / metabolism
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Mice
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Multiprotein Complexes / genetics
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Multiprotein Complexes / metabolism
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Organelles / physiology*
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Protein Transport
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Rats
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rab GTP-Binding Proteins / genetics
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rab GTP-Binding Proteins / metabolism*
Substances
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Guanine Nucleotide Exchange Factors
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Multiprotein Complexes
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rab GTP-Binding Proteins