Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor
about
Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin.AP-4, a novel protein complex related to clathrin adaptorsCharacterization of a fourth adaptor-related protein complexEndoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinismAP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytesThe WASH complex, an endosomal Arp2/3 activator, interacts with the Hermansky-Pudlak syndrome complex BLOC-1 and its cargo phosphatidylinositol-4-kinase type IIαThe schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapseThe fifth adaptor protein complexBLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granulesThe Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organellesZinc transporter 2 (SLC30A2) can suppress the vesicular zinc defect of adaptor protein 3-depleted fibroblasts by promoting zinc accumulation in lysosomesA germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropeniaBLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4BLOC-2, AP-3, and AP-1 proteins function in concert with Rab38 and Rab32 proteins to mediate protein trafficking to lysosome-related organellesCharacterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6Functions of adaptor protein (AP)-3 and AP-1 in tyrosinase sorting from endosomes to melanosomesAutophagic substrate clearance requires activity of the syntaxin-5 SNARE complexIdentification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organellesDeficiency of sorting nexin 27 (SNX27) leads to growth retardation and elevated levels of N-methyl-D-aspartate receptor 2C (NR2C)Tetraspanin CD63 promotes vascular endothelial growth factor receptor 2-β1 integrin complex formation, thereby regulating activation and downstream signaling in endothelial cells in vitro and in vivoHermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiencyRole of adaptor complex AP-3 in targeting wild-type and mutated CD63 to lysosomesThe AP-3 complex required for endosomal synaptic vesicle biogenesis is associated with a casein kinase Ialpha-like isoformThe assembly of AP-3 adaptor complex-containing clathrin-coated vesicles on synthetic liposomesAdaptins: the final recountRab9 GTPase regulates late endosome size and requires effector interaction for its stabilityThe RCP-Rab11 complex regulates endocytic protein sortingClinical and cellular characterisation of Hermansky-Pudlak syndrome type 6Genetic interstitial lung diseaseHermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2Role of MRP4 (ABCC4) in platelet adenine nucleotide-storage: evidence from patients with delta-storage pool deficienciesDistribution and function of AP-1 clathrin adaptor complexes in polarized epithelial cellsDistinct protein sorting and localization to premelanosomes, melanosomes, and lysosomes in pigmented melanocytic cellsMelanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3A dual mechanism controlling the localization and function of exocytic v-SNAREsDefective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patientsIdentification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2
P2860
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P2860
Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor
description
1999 nî lūn-bûn
@nan
1999 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Altered trafficking of lysosom ...... 3A subunit of the AP-3 adaptor
@ast
Altered trafficking of lysosom ...... 3A subunit of the AP-3 adaptor
@en
Altered trafficking of lysosom ...... 3A subunit of the AP-3 adaptor
@en-gb
Altered trafficking of lysosom ...... 3A subunit of the AP-3 adaptor
@nl
type
label
Altered trafficking of lysosom ...... 3A subunit of the AP-3 adaptor
@ast
Altered trafficking of lysosom ...... 3A subunit of the AP-3 adaptor
@en
Altered trafficking of lysosom ...... 3A subunit of the AP-3 adaptor
@en-gb
Altered trafficking of lysosom ...... 3A subunit of the AP-3 adaptor
@nl
prefLabel
Altered trafficking of lysosom ...... 3A subunit of the AP-3 adaptor
@ast
Altered trafficking of lysosom ...... 3A subunit of the AP-3 adaptor
@en
Altered trafficking of lysosom ...... 3A subunit of the AP-3 adaptor
@en-gb
Altered trafficking of lysosom ...... 3A subunit of the AP-3 adaptor
@nl
P2093
P3181
P1433
P1476
Altered trafficking of lysosom ...... 3A subunit of the AP-3 adaptor
@en
P2093
E C Dell'Angelica
R C Aguilar
P3181
P356
10.1016/S1097-2765(00)80170-7
P407
P577
1999-01-01T00:00:00Z