The cell biology of Hermansky-Pudiak syndrome: Recent advances
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作者:
Di Pietro, SM
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Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USAUniv Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA
Di Pietro, SM
[1
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Dell'Angelica, EC
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Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USAUniv Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA
Dell'Angelica, EC
[1
]
机构:
[1] Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA
Hermansky-Pudlak syndrome (HPS) defines a group of at least seven autosomal recessive disorders characterized by albinism and prolonged bleeding. These manifestations arise from defects in the biogenesis of lysosome-related organelles, including melanosomes and platelet dense granules. Most genes associated with HPS in humans and rodent models of the disease encode components of multisubunit protein complexes that are expressed ubiquitously and play roles in intracellular protein trafficking and/or organelle distribution. A small GTPase of the Rab family, Rab38, is also implicated in the pathogenesis of the disease. This article reviews recent progress toward elucidating the cellular functions of these proteins.
机构:Univ Calif San Francisco, Dept Biochem & Biophys, San Francisco, CA 94143 USA
Blumstein, J
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Faundez, V
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机构:Univ Calif San Francisco, Dept Biochem & Biophys, San Francisco, CA 94143 USA
Faundez, V
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Nakatsu, F
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机构:Univ Calif San Francisco, Dept Biochem & Biophys, San Francisco, CA 94143 USA
Nakatsu, F
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Saito, T
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机构:Univ Calif San Francisco, Dept Biochem & Biophys, San Francisco, CA 94143 USA
Saito, T
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Ohno, H
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机构:Univ Calif San Francisco, Dept Biochem & Biophys, San Francisco, CA 94143 USA
Ohno, H
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Kelly, RB
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机构:
Univ Calif San Francisco, Dept Biochem & Biophys, San Francisco, CA 94143 USAUniv Calif San Francisco, Dept Biochem & Biophys, San Francisco, CA 94143 USA
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USAUniv Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA
机构:Univ Calif San Francisco, Dept Biochem & Biophys, San Francisco, CA 94143 USA
Blumstein, J
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Faundez, V
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h-index: 0
机构:Univ Calif San Francisco, Dept Biochem & Biophys, San Francisco, CA 94143 USA
Faundez, V
;
Nakatsu, F
论文数: 0引用数: 0
h-index: 0
机构:Univ Calif San Francisco, Dept Biochem & Biophys, San Francisco, CA 94143 USA
Nakatsu, F
;
Saito, T
论文数: 0引用数: 0
h-index: 0
机构:Univ Calif San Francisco, Dept Biochem & Biophys, San Francisco, CA 94143 USA
Saito, T
;
Ohno, H
论文数: 0引用数: 0
h-index: 0
机构:Univ Calif San Francisco, Dept Biochem & Biophys, San Francisco, CA 94143 USA
Ohno, H
;
Kelly, RB
论文数: 0引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Dept Biochem & Biophys, San Francisco, CA 94143 USAUniv Calif San Francisco, Dept Biochem & Biophys, San Francisco, CA 94143 USA
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USAUniv Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA