-
1
-
-
6444236367
-
Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: Report of two cases with histochemical studies
-
Hermansky F, Pudlak P,. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood 1959; 14: 162-169.
-
(1959)
Blood
, vol.14
, pp. 162-169
-
-
Hermansky, F.1
Pudlak, P.2
-
2
-
-
0030293220
-
Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles
-
Oh J, Bailin T, Fukai K, et al,. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet 1996; 14: 300-306.
-
(1996)
Nat Genet
, vol.14
, pp. 300-306
-
-
Oh, J.1
Bailin, T.2
Fukai, K.3
-
3
-
-
0034928726
-
Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico
-
Anikster Y, Huizing M, White J, et al,. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nat Genet 2001; 28: 376-380.
-
(2001)
Nat Genet
, vol.28
, pp. 376-380
-
-
Anikster, Y.1
Huizing, M.2
White, J.3
-
4
-
-
33646338630
-
Mutational data integration in gene-oriented files of the Hermansky-Pudlak syndrome database
-
Li W, He M, Zhou H, et al,. Mutational data integration in gene-oriented files of the Hermansky-Pudlak syndrome database. Hum Mutat 2006; 27: 402-407.
-
(2006)
Hum Mutat
, vol.27
, pp. 402-407
-
-
Li, W.1
He, M.2
Zhou, H.3
-
5
-
-
27744591042
-
High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein
-
Ito S, Suzuki T, Inagaki K, et al,. High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein. J Invest Dermatol 2005; 125: 715-720.
-
(2005)
J Invest Dermatol
, vol.125
, pp. 715-720
-
-
Ito, S.1
Suzuki, T.2
Inagaki, K.3
-
6
-
-
76649116222
-
A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism
-
Wei A, Wang Y, Long Y, et al,. A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. J Invest Dermatol 2010; 130: 716-724.
-
(2010)
J Invest Dermatol
, vol.130
, pp. 716-724
-
-
Wei, A.1
Wang, Y.2
Long, Y.3
-
7
-
-
79954570718
-
Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism
-
Wei A, Yang X, Lian S, et al,. Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism. J Dermatol Sci 2011; 62: 124-127.
-
(2011)
J Dermatol Sci
, vol.62
, pp. 124-127
-
-
Wei, A.1
Yang, X.2
Lian, S.3
-
8
-
-
0033007616
-
Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor
-
Dell'Angelica EC, Shotelersuk V, Aguilar RC, et al,. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. Mol Cell 1999; 3: 11-21.
-
(1999)
Mol Cell
, vol.3
, pp. 11-21
-
-
Dell'Angelica, E.C.1
Shotelersuk, V.2
Aguilar, R.C.3
-
9
-
-
18544384692
-
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene
-
Suzuki T, Li W, Zhang Q, et al,. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet 2002; 30: 321-324.
-
(2002)
Nat Genet
, vol.30
, pp. 321-324
-
-
Suzuki, T.1
Li, W.2
Zhang, Q.3
-
10
-
-
0037312933
-
Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6
-
Zhang Q, Zhao B, Li W, et al,. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet 2003; 33: 145-153.
-
(2003)
Nat Genet
, vol.33
, pp. 145-153
-
-
Zhang, Q.1
Zhao, B.2
Li, W.3
-
11
-
-
0041854263
-
Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)
-
Li W, Zhang Q, Oiso N, et al,. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet 2003; 35: 84-89.
-
(2003)
Nat Genet
, vol.35
, pp. 84-89
-
-
Li, W.1
Zhang, Q.2
Oiso, N.3
-
12
-
-
79958805251
-
A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak syndrome type 9
-
Cullinane AR, Curry JA, Carmona-Rivera C, et al,. A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak syndrome type 9. Am J Hum Genet 2011a; 88: 778-787.
-
(2011)
Am J Hum Genet
, vol.88
, pp. 778-787
-
-
Cullinane, A.R.1
Curry, J.A.2
Carmona-Rivera, C.3
-
13
-
-
29244443387
-
A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)
-
Morgan NV, Pasha S, Johnson CA, et al,. A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). Am J Hum Genet 2006; 78: 160-166.
-
(2006)
Am J Hum Genet
, vol.78
, pp. 160-166
-
-
Morgan, N.V.1
Pasha, S.2
Johnson, C.A.3
-
14
-
-
84859330854
-
Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome
-
Badolato R, Prandini A, Caracciolo S, et al,. Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome. Blood 2012; 119: 3185-3187.
-
(2012)
Blood
, vol.119
, pp. 3185-3187
-
-
Badolato, R.1
Prandini, A.2
Caracciolo, S.3
-
15
-
-
80052840923
-
Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia
-
Cullinane AR, Vilboux T, O'Brien K, et al,. Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia. J Invest Dermatol 2011b; 131: 2017-2025.
-
(2011)
J Invest Dermatol
, vol.131
, pp. 2017-2025
-
-
Cullinane, A.R.1
Vilboux, T.2
O'Brien, K.3
-
16
-
-
2942562170
-
Murine Hermansky-Pudlak syndrome genes: Regulators of lysosome-related organelles
-
Li W, Rusiniak ME, Chintala S, et al,. Murine Hermansky-Pudlak syndrome genes: regulators of lysosome-related organelles. BioEssays 2004; 26: 616-628.
-
(2004)
BioEssays
, vol.26
, pp. 616-628
-
-
Li, W.1
Rusiniak, M.E.2
Chintala, S.3
-
17
-
-
84859738620
-
Mechanisms of protein delivery to melanosomes in pigment cells
-
Sitaram A, Marks MS,. Mechanisms of protein delivery to melanosomes in pigment cells. Physiology (Bethesda) 2012; 27: 85-99.
-
(2012)
Physiology (Bethesda)
, vol.27
, pp. 85-99
-
-
Sitaram, A.1
Marks, M.S.2
-
18
-
-
52949149668
-
Disorders of lysosome-related organelle biogenesis: Clinical and molecular genetics
-
Huizing M, Helip-Wooley A, Westbroek W, et al,. Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu Rev Genomics Hum Genet 2008; 9: 359-386.
-
(2008)
Annu Rev Genomics Hum Genet
, vol.9
, pp. 359-386
-
-
Huizing, M.1
Helip-Wooley, A.2
Westbroek, W.3
-
19
-
-
33645057693
-
Hermansky-Pudlak syndrome: A disease of protein trafficking and organelle function
-
Wei ML,. Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function. Pigment Cell Res 2006; 19: 19-42.
-
(2006)
Pigment Cell Res
, vol.19
, pp. 19-42
-
-
Wei, M.L.1
-
21
-
-
0032044504
-
Mouse models of Hermansky-Pudlak syndrome: A review
-
Swank RT, Novak EK, McGarry MP, et al,. Mouse models of Hermansky-Pudlak syndrome: a review. Pigment Cell Res 1998; 11: 60-80.
-
(1998)
Pigment Cell Res
, vol.11
, pp. 60-80
-
-
Swank, R.T.1
Novak, E.K.2
McGarry, M.P.3
-
22
-
-
33745633063
-
Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II
-
Enders A, Zieger B, Schwarz K, et al,. Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II. Blood 2006; 108: 81-87.
-
(2006)
Blood
, vol.108
, pp. 81-87
-
-
Enders, A.1
Zieger, B.2
Schwarz, K.3
-
23
-
-
0036157244
-
Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2
-
Huizing M, Scher CD, Strovel E, et al,. Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. Pediatr Res 2002; 51: 150-158.
-
(2002)
Pediatr Res
, vol.51
, pp. 150-158
-
-
Huizing, M.1
Scher, C.D.2
Strovel, E.3
-
24
-
-
56049125253
-
Dysbindin deficiency in sandy mice causes reduction of snapin and displays behaviors related to schizophrenia
-
Feng YQ, Zhou ZY, He X, et al,. Dysbindin deficiency in sandy mice causes reduction of snapin and displays behaviors related to schizophrenia. Schizophr Res 2008; 106: 218-228.
-
(2008)
Schizophr Res
, vol.106
, pp. 218-228
-
-
Feng, Y.Q.1
Zhou, Z.Y.2
He, X.3
-
25
-
-
11144253549
-
Genetic analysis of the neuronal and ubiquitous AP-3 adaptor complexes reveals divergent functions in brain
-
Seong E, Wainer BH, Hughes ED, et al,. Genetic analysis of the neuronal and ubiquitous AP-3 adaptor complexes reveals divergent functions in brain. Mol Biol Cell 2005; 16: 128-140.
-
(2005)
Mol Biol Cell
, vol.16
, pp. 128-140
-
-
Seong, E.1
Wainer, B.H.2
Hughes, E.D.3
-
26
-
-
15844397403
-
Identification of the homologous beige and Chediak-Higashi syndrome genes
-
Barbosa MD, Nguyen QA, Tchernev VT, et al,. Identification of the homologous beige and Chediak-Higashi syndrome genes. Nature 1996; 382: 262-265.
-
(1996)
Nature
, vol.382
, pp. 262-265
-
-
Barbosa, M.D.1
Nguyen, Q.A.2
Tchernev, V.T.3
-
27
-
-
0030914460
-
Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene
-
Pastural E, Barrat FJ, Dufourcq-Lagelouse R, et al,. Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene. Nat Genet 1997; 16: 289-292.
-
(1997)
Nat Genet
, vol.16
, pp. 289-292
-
-
Pastural, E.1
Barrat, F.J.2
Dufourcq-Lagelouse, R.3
-
28
-
-
0344002689
-
Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome
-
Menasche G, Pastural E, Feldmann J, et al,. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat Genet 2000; 25: 173-176.
-
(2000)
Nat Genet
, vol.25
, pp. 173-176
-
-
Menasche, G.1
Pastural, E.2
Feldmann, J.3
-
29
-
-
0042388106
-
Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)
-
Menasche G, Ho CH, Sanal O, et al,. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). J Clin Invest 2003; 112: 450-456.
-
(2003)
J Clin Invest
, vol.112
, pp. 450-456
-
-
Menasche, G.1
Ho, C.H.2
Sanal, O.3
-
30
-
-
0037057216
-
Variable response of Hermansky-Pudlak syndrome to prophylactic administration of 1-desamino 8D-arginine in subsequent pregnancies
-
Zatik J, Poka R, Borsos A, et al,. Variable response of Hermansky-Pudlak syndrome to prophylactic administration of 1-desamino 8D-arginine in subsequent pregnancies. Eur J Obstet Gynecol Reprod Biol 2002; 104: 165-166.
-
(2002)
Eur J Obstet Gynecol Reprod Biol
, vol.104
, pp. 165-166
-
-
Zatik, J.1
Poka, R.2
Borsos, A.3
-
31
-
-
0034331071
-
Hermansky-Pudlak syndrome and related disorders of organelle formation
-
Huizing M, Anikster Y, Gahl WA,. Hermansky-Pudlak syndrome and related disorders of organelle formation. Traffic 2000; 1: 823-835.
-
(2000)
Traffic
, vol.1
, pp. 823-835
-
-
Huizing, M.1
Anikster, Y.2
Gahl, W.A.3
-
32
-
-
0035990977
-
Disorders of vesicles of lysosomal lineage: The Hermansky-Pudlak syndromes
-
Huizing M, Gahl WA,. Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes. Curr Mol Med 2002; 2: 451-467.
-
(2002)
Curr Mol Med
, vol.2
, pp. 451-467
-
-
Huizing, M.1
Gahl, W.A.2
-
33
-
-
21044448584
-
The cell biology of Hermansky-Pudlak syndrome: Recent advances
-
Di PS, Dell'Angelica EC,. The cell biology of Hermansky-Pudlak syndrome: recent advances. Traffic 2005; 6: 525-533.
-
(2005)
Traffic
, vol.6
, pp. 525-533
-
-
Di, P.S.1
Dell'Angelica, E.C.2
-
34
-
-
84863865892
-
The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles
-
Yang Q, He X, Yang L, et al,. The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles. Traffic 2012; 13: 1160-1169.
-
(2012)
Traffic
, vol.13
, pp. 1160-1169
-
-
Yang, Q.1
He, X.2
Yang, L.3
-
35
-
-
33745022082
-
Interaction of Hermansky-Pudlak syndrome genes in the regulation of lysosome-related organelles
-
Gautam R, Novak EK, Tan J, et al,. Interaction of Hermansky-Pudlak syndrome genes in the regulation of lysosome-related organelles. Traffic 2006; 7: 779-792.
-
(2006)
Traffic
, vol.7
, pp. 779-792
-
-
Gautam, R.1
Novak, E.K.2
Tan, J.3
-
36
-
-
79952580172
-
Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of mouse coat pigmentation
-
Hoyle DJ, Rodriguez-Fernandez IA, Dell'angelica EC,. Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of mouse coat pigmentation. Pigment Cell Melanoma Res 2011; 24: 275-281.
-
(2011)
Pigment Cell Melanoma Res
, vol.24
, pp. 275-281
-
-
Hoyle, D.J.1
Rodriguez-Fernandez, I.A.2
Dell'Angelica, E.C.3
-
37
-
-
8644236737
-
Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex
-
Gwynn B, Martina JA, Bonifacino JS, et al,. Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex. Blood 2004; 104: 3181-3189.
-
(2004)
Blood
, vol.104
, pp. 3181-3189
-
-
Gwynn, B.1
Martina, J.A.2
Bonifacino, J.S.3
-
38
-
-
0037008731
-
BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules
-
Falcon-Perez JM, Starcevic M, Gautam R, et al,. BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules. J Biol Chem 2002; 277: 28191-28199.
-
(2002)
J Biol Chem
, vol.277
, pp. 28191-28199
-
-
Falcon-Perez, J.M.1
Starcevic, M.2
Gautam, R.3
-
39
-
-
0038142358
-
Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1)
-
Ciciotte SL, Gwynn B, Moriyama K, et al,. Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1). Blood 2003; 101: 4402-4407.
-
(2003)
Blood
, vol.101
, pp. 4402-4407
-
-
Ciciotte, S.L.1
Gwynn, B.2
Moriyama, K.3
-
40
-
-
3142580943
-
Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)
-
Starcevic M, Dell'Angelica EC,. Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1). J Biol Chem 2004; 279: 28393-28401.
-
(2004)
J Biol Chem
, vol.279
, pp. 28393-28401
-
-
Starcevic, M.1
Dell'Angelica, E.C.2
-
41
-
-
1842588760
-
Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6
-
Di PS, Falcon-Perez JM, Dell'Angelica EC,. Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. Traffic 2004; 5: 276-283.
-
(2004)
Traffic
, vol.5
, pp. 276-283
-
-
Di, P.S.1
Falcon-Perez, J.M.2
Dell'Angelica, E.C.3
-
42
-
-
1842581837
-
The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2)
-
Gautam R, Chintala S, Li W, et al,. The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2). J Biol Chem 2004; 279: 12935-12942.
-
(2004)
J Biol Chem
, vol.279
, pp. 12935-12942
-
-
Gautam, R.1
Chintala, S.2
Li, W.3
-
43
-
-
0043208690
-
BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4
-
Martina JA, Moriyama K, Bonifacino JS,. BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. J Biol Chem 2003; 278: 29376-29384.
-
(2003)
J Biol Chem
, vol.278
, pp. 29376-29384
-
-
Martina, J.A.1
Moriyama, K.2
Bonifacino, J.S.3
-
44
-
-
0042307384
-
Biogenesis of lysosome-related organelles complex 3 (BLOC-3): A complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4
-
Nazarian R, Falcon-Perez JM, Dell'Angelica EC,. Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. Proc Natl Acad Sci USA 2003; 100: 8770-8775.
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 8770-8775
-
-
Nazarian, R.1
Falcon-Perez, J.M.2
Dell'Angelica, E.C.3
-
45
-
-
0038713390
-
The 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 organelles
-
Chiang PW, Oiso N, Gautam R, et al,. The 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 organelles. J Biol Chem 2003; 278: 20332-20337.
-
(2003)
J Biol Chem
, vol.278
, pp. 20332-20337
-
-
Chiang, P.W.1
Oiso, N.2
Gautam, R.3
-
46
-
-
3142516226
-
The building BLOC(k)s of lysosomes and related organelles
-
Dell'Angelica EC,. The building BLOC(k)s of lysosomes and related organelles. Curr Opin Cell Biol 2004; 16: 458-464.
-
(2004)
Curr Opin Cell Biol
, vol.16
, pp. 458-464
-
-
Dell'Angelica, E.C.1
-
47
-
-
84863115372
-
Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1)
-
Lee HH, Nemecek D, Schindler C, et al,. Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1). J Biol Chem 2012; 287: 5882-5890.
-
(2012)
J Biol Chem
, vol.287
, pp. 5882-5890
-
-
Lee, H.H.1
Nemecek, D.2
Schindler, C.3
-
48
-
-
34547841632
-
The BLOC interactomes form a network in endosomal transport
-
Li W, Feng Y, Hao C, et al,. The BLOC interactomes form a network in endosomal transport. J Genet Genomics 2007; 34: 669-682.
-
(2007)
J Genet Genomics
, vol.34
, pp. 669-682
-
-
Li, W.1
Feng, Y.2
Hao, C.3
-
49
-
-
0036219181
-
The dark side of lysosome-related organelles: Specialization of the endocytic pathway for melanosome biogenesis
-
Raposo G, Marks MS,. The dark side of lysosome-related organelles: specialization of the endocytic pathway for melanosome biogenesis. Traffic 2002; 3: 237-248.
-
(2002)
Traffic
, vol.3
, pp. 237-248
-
-
Raposo, G.1
Marks, M.S.2
-
50
-
-
0035490904
-
The melanosome: Membrane dynamics in black and white
-
Marks MS, Seabra MC,. The melanosome: membrane dynamics in black and white. Nat Rev Mol Cell Biol 2001; 2: 738-748.
-
(2001)
Nat Rev Mol Cell Biol
, vol.2
, pp. 738-748
-
-
Marks, M.S.1
Seabra, M.C.2
-
51
-
-
33746617878
-
Dual loss of ER export and endocytic signals with altered melanosome morphology in the silver mutation of Pmel17
-
Theos AC, Berson JF, Theos SC, et al,. Dual loss of ER export and endocytic signals with altered melanosome morphology in the silver mutation of Pmel17. Mol Biol Cell 2006; 17: 3598-3612.
-
(2006)
Mol Biol Cell
, vol.17
, pp. 3598-3612
-
-
Theos, A.C.1
Berson, J.F.2
Theos, S.C.3
-
52
-
-
50649121059
-
Cell-specific ATP7A transport sustains copper-dependent tyrosinase activity in melanosomes
-
Setty SR, Tenza D, Sviderskaya EV, et al,. Cell-specific ATP7A transport sustains copper-dependent tyrosinase activity in melanosomes. Nature 2008; 454: 1142-1146.
-
(2008)
Nature
, vol.454
, pp. 1142-1146
-
-
Setty, S.R.1
Tenza, D.2
Sviderskaya, E.V.3
-
53
-
-
78651426731
-
Human hair melanins: What we have learned and have not learned from mouse coat color pigmentation
-
Ito S, Wakamatsu K,. Human hair melanins: what we have learned and have not learned from mouse coat color pigmentation. Pigment Cell Melanoma Res 2011; 24: 63-74.
-
(2011)
Pigment Cell Melanoma Res
, vol.24
, pp. 63-74
-
-
Ito, S.1
Wakamatsu, K.2
-
54
-
-
18744403672
-
Melanosome morphologies in murine models of Hermansky-Pudlak syndrome reflect blocks in organelle development
-
Nguyen T, Novak EK, Kermani M, et al,. Melanosome morphologies in murine models of Hermansky-Pudlak syndrome reflect blocks in organelle development. J Invest Dermatol 2002; 119: 1156-1164.
-
(2002)
J Invest Dermatol
, vol.119
, pp. 1156-1164
-
-
Nguyen, T.1
Novak, E.K.2
Kermani, M.3
-
55
-
-
84871895123
-
Differential recognition of a dileucine-based sorting signal by AP-1 and AP-3 reveals a requirement for both BLOC-1 and AP-3 in delivery of OCA2 to melanosomes
-
Sitaram A, Dennis MK, Chaudhuri R, et al,. Differential recognition of a dileucine-based sorting signal by AP-1 and AP-3 reveals a requirement for both BLOC-1 and AP-3 in delivery of OCA2 to melanosomes. Mol Biol Cell 2012; 23: 3178-3192.
-
(2012)
Mol Biol Cell
, vol.23
, pp. 3178-3192
-
-
Sitaram, A.1
Dennis, M.K.2
Chaudhuri, R.3
-
56
-
-
0038795645
-
Signals for sorting of transmembrane proteins to endosomes and lysosomes
-
Bonifacino JS, Traub LM,. Signals for sorting of transmembrane proteins to endosomes and lysosomes. Annu Rev Biochem 2003; 72: 395-447.
-
(2003)
Annu Rev Biochem
, vol.72
, pp. 395-447
-
-
Bonifacino, J.S.1
Traub, L.M.2
-
57
-
-
71849085568
-
MHC class II presentation of gp100 epitopes in melanoma cells requires the function of conventional endosomes and is influenced by melanosomes
-
Robila V, Ostankovitch M, Altrich-Vanlith ML, et al,. MHC class II presentation of gp100 epitopes in melanoma cells requires the function of conventional endosomes and is influenced by melanosomes. J Immunol 2008; 181: 7843-7852.
-
(2008)
J Immunol
, vol.181
, pp. 7843-7852
-
-
Robila, V.1
Ostankovitch, M.2
Altrich-Vanlith, M.L.3
-
58
-
-
80054730364
-
The tetraspanin CD63 regulates ESCRT-independent and -dependent endosomal sorting during melanogenesis
-
van Niel G, Charrin S, Simoes S, et al,. The tetraspanin CD63 regulates ESCRT-independent and -dependent endosomal sorting during melanogenesis. Dev Cell 2011; 21: 708-721.
-
(2011)
Dev Cell
, vol.21
, pp. 708-721
-
-
Van Niel, G.1
Charrin, S.2
Simoes, S.3
-
59
-
-
11144239946
-
Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3
-
Boissy RE, Richmond B, Huizing M, et al,. Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3. Am J Pathol 2005; 166: 231-240.
-
(2005)
Am J Pathol
, vol.166
, pp. 231-240
-
-
Boissy, R.E.1
Richmond, B.2
Huizing, M.3
-
60
-
-
34248570957
-
Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5
-
Helip-Wooley A, Westbroek W, Dorward HM, et al,. Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5. J Invest Dermatol 2007; 127: 1471-1478.
-
(2007)
J Invest Dermatol
, vol.127
, pp. 1471-1478
-
-
Helip-Wooley, A.1
Westbroek, W.2
Dorward, H.M.3
-
61
-
-
68549136802
-
ESCRT-I function is required for Tyrp1 transport from early endosomes to the melanosome limiting membrane
-
Truschel ST, Simoes S, Setty SR, et al,. ESCRT-I function is required for Tyrp1 transport from early endosomes to the melanosome limiting membrane. Traffic 2009; 10: 1318-1336.
-
(2009)
Traffic
, vol.10
, pp. 1318-1336
-
-
Truschel, S.T.1
Simoes, S.2
Setty, S.R.3
-
62
-
-
77951248675
-
Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9
-
Kloer DP, Rojas R, Ivan V, et al,. Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9. J Biol Chem 2010; 285: 7794-7804.
-
(2010)
J Biol Chem
, vol.285
, pp. 7794-7804
-
-
Kloer, D.P.1
Rojas, R.2
Ivan, V.3
-
63
-
-
0033202889
-
Formation of AP-3 transport intermediates requires Vps41 function
-
Rehling P, Darsow T, Katzmann DJ, et al,. Formation of AP-3 transport intermediates requires Vps41 function. Nat Cell Biol 1999; 1: 346-353.
-
(1999)
Nat Cell Biol
, vol.1
, pp. 346-353
-
-
Rehling, P.1
Darsow, T.2
Katzmann, D.J.3
-
64
-
-
73949144893
-
HOPS interacts with Apl5 at the vacuole membrane and is required for consumption of AP-3 transport vesicles
-
Angers CG, Merz AJ,. HOPS interacts with Apl5 at the vacuole membrane and is required for consumption of AP-3 transport vesicles. Mol Biol Cell 2009; 20: 4563-4574.
-
(2009)
Mol Biol Cell
, vol.20
, pp. 4563-4574
-
-
Angers, C.G.1
Merz, A.J.2
-
65
-
-
28044455222
-
Membranous complexes characteristic of melanocytes derived from patients with Hermansky-Pudlak syndrome type 1 are macroautophagosomal entities of the lysosomal compartment
-
Smith JW, Koshoffer A, Morris RE, et al,. Membranous complexes characteristic of melanocytes derived from patients with Hermansky-Pudlak syndrome type 1 are macroautophagosomal entities of the lysosomal compartment. Pigment Cell Res 2005; 18: 417-426.
-
(2005)
Pigment Cell Res
, vol.18
, pp. 417-426
-
-
Smith, J.W.1
Koshoffer, A.2
Morris, R.E.3
-
66
-
-
33748334320
-
BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes
-
Di Pietro SM, Falcon-Perez JM, Tenza D, et al,. BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes. Mol Biol Cell 2006; 17: 4027-4038.
-
(2006)
Mol Biol Cell
, vol.17
, pp. 4027-4038
-
-
Di Pietro, S.M.1
Falcon-Perez, J.M.2
Tenza, D.3
-
67
-
-
65249096681
-
Roles of BLOC-1 and adaptor protein-3 complexes in cargo sorting to synaptic vesicles
-
Newell-Litwa K, Salazar G, Smith Y, et al,. Roles of BLOC-1 and adaptor protein-3 complexes in cargo sorting to synaptic vesicles. Mol Biol Cell 2009; 20: 1441-1453.
-
(2009)
Mol Biol Cell
, vol.20
, pp. 1441-1453
-
-
Newell-Litwa, K.1
Salazar, G.2
Smith, Y.3
-
68
-
-
84864033996
-
SLC35D3 delivery from megakaryocyte early endosomes is required for platelet dense granule biogenesis and is differentially defective in Hermansky-Pudlak syndrome models
-
Meng R, Wang Y, Yao Y, et al,. SLC35D3 delivery from megakaryocyte early endosomes is required for platelet dense granule biogenesis and is differentially defective in Hermansky-Pudlak syndrome models. Blood 2012; 120: 404-414.
-
(2012)
Blood
, vol.120
, pp. 404-414
-
-
Meng, R.1
Wang, Y.2
Yao, Y.3
-
69
-
-
33751240077
-
Comparative proteomics of clathrin-coated vesicles
-
Borner GH, Harbour M, Hester S, et al,. Comparative proteomics of clathrin-coated vesicles. J Cell Biol 2006; 175: 571-578.
-
(2006)
J Cell Biol
, vol.175
, pp. 571-578
-
-
Borner, G.H.1
Harbour, M.2
Hester, S.3
|