-
1
-
-
23844449034
-
Targeting of Rab GTPases to cellular membranes
-
Ali B, Seabra M. 2005. Targeting of Rab GTPases to cellular membranes. Biochem. Soc. Trans. 33:652-56
-
(2005)
Biochem. Soc. Trans
, vol.33
, pp. 652-656
-
-
Ali, B.1
Seabra, M.2
-
2
-
-
0037666799
-
Hermansky-Pudlak syndrome type 4 (HPS-4): Clinical and molecular characteristics
-
Anderson PD, Huizing M, Claassen DA, White J, Gahl WA. 2003. Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. Hum. Genet. 113:10-17
-
(2003)
Hum. Genet
, vol.113
, pp. 10-17
-
-
Anderson, P.D.1
Huizing, M.2
Claassen, D.A.3
White, J.4
Gahl, W.A.5
-
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, Shevchenko YO, Fitzpatrick DL, et al. 2001. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nat. Genet. 28:376-80
-
(2001)
Nat. Genet
, vol.28
, pp. 376-380
-
-
Anikster, Y.1
Huizing, M.2
White, J.3
Shevchenko, Y.O.4
Fitzpatrick, D.L.5
-
4
-
-
1842421129
-
The melanosome as a model to study organelle motility in mammals
-
Barral DC, Seabra MC. 2004. The melanosome as a model to study organelle motility in mammals. Pigment Cell Res. 17:111-18
-
(2004)
Pigment Cell Res
, vol.17
, pp. 111-118
-
-
Barral, D.C.1
Seabra, M.C.2
-
5
-
-
0037986392
-
Proprotein convertase cleavage liberates a fibrillogenic fragment of a resident glycoprotein to initiate melanosome biogenesis
-
Berson JF, Theos AC, Harper DC, Tenza D, Raposo G, Marks MS. 2003. Proprotein convertase cleavage liberates a fibrillogenic fragment of a resident glycoprotein to initiate melanosome biogenesis. J. Cell Biol. 161:521-33
-
(2003)
J. Cell Biol
, vol.161
, pp. 521-533
-
-
Berson, J.F.1
Theos, A.C.2
Harper, D.C.3
Tenza, D.4
Raposo, G.5
Marks, M.S.6
-
6
-
-
33846109356
-
A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14
-
Bohn G, Allroth A, Brandes G, Thiel J, Glocker E, et al. 2007. A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14. Nat. Med. 13:38-45
-
(2007)
Nat. Med
, vol.13
, pp. 38-45
-
-
Bohn, G.1
Allroth, A.2
Brandes, G.3
Thiel, J.4
Glocker, E.5
-
7
-
-
34948886663
-
Severe congenital neutropenia: New genes explain an old disease
-
Bohn G, Welte K, Klein C. 2007. Severe congenital neutropenia: new genes explain an old disease. Curr. Opin. Rheumatol. 19:644-50
-
(2007)
Curr. Opin. Rheumatol
, vol.19
, pp. 644-650
-
-
Bohn, G.1
Welte, K.2
Klein, C.3
-
8
-
-
11144239946
-
Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3
-
Boissy RE, Richmond B, Huizing M, Helip-Wooley A, Zhao Y, et al. 2005. Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3. Am. J. Pathol. 166:231-40
-
(2005)
Am. J. Pathol
, vol.166
, pp. 231-240
-
-
Boissy, R.E.1
Richmond, B.2
Huizing, M.3
Helip-Wooley, A.4
Zhao, Y.5
-
9
-
-
0842324801
-
The mechanisms of vesicle budding and fusion
-
Bonifacino JS, Glick BS. 2004. The mechanisms of vesicle budding and fusion. Cell 116:153-66
-
(2004)
Cell
, vol.116
, pp. 153-166
-
-
Bonifacino, J.S.1
Glick, B.S.2
-
10
-
-
3943065716
-
Elejalde syndrome: Report of a case and review of the literature
-
Cahali JB, Fernandez SA, Oliveira ZN, Machado MC, Valente NS, Sotto MN. 2004. Elejalde syndrome: report of a case and review of the literature. Pediatr. Dermatol. 21:479-82
-
(2004)
Pediatr. Dermatol
, vol.21
, pp. 479-482
-
-
Cahali, J.B.1
Fernandez, S.A.2
Oliveira, Z.N.3
Machado, M.C.4
Valente, N.S.5
Sotto, M.N.6
-
11
-
-
34247623568
-
Coats, tethers, Rabs, and SNAREs work together to mediate the intracellular destination of a transport vesicle
-
Cai H, Reinisch K, Ferro-Novick S. 2007. Coats, tethers, Rabs, and SNAREs work together to mediate the intracellular destination of a transport vesicle. Dev. Cell 12:671-82
-
(2007)
Dev. Cell
, vol.12
, pp. 671-682
-
-
Cai, H.1
Reinisch, K.2
Ferro-Novick, S.3
-
12
-
-
33749015997
-
Microtubule motors at the intersection of trafficking and transport
-
Caviston JP, Holzbaur EL. 2006. Microtubule motors at the intersection of trafficking and transport. Trends Cell Biol. 16:530-37
-
(2006)
Trends Cell Biol
, vol.16
, pp. 530-537
-
-
Caviston, J.P.1
Holzbaur, E.L.2
-
13
-
-
0016598865
-
Abnormal lamellar bodies in type II pneumocytes and increased lung surface active material in the beige mouse
-
Chi E, Pruiett J, Lagunoff D. 1975. Abnormal lamellar bodies in type II pneumocytes and increased lung surface active material in the beige mouse. J. Histochem. Cytochem. 23:863-66
-
(1975)
J. Histochem. Cytochem
, vol.23
, pp. 863-866
-
-
Chi, E.1
Pruiett, J.2
Lagunoff, D.3
-
14
-
-
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, Suzuki T, Swank RT, Spritz RA. 2003. 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. 278:20332-37
-
(2003)
J. Biol. Chem
, vol.278
, pp. 20332-20337
-
-
Chiang, P.W.1
Oiso, N.2
Gautam, R.3
Suzuki, T.4
Swank, R.T.5
Spritz, R.A.6
-
15
-
-
23344450918
-
Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells
-
Chintala S, Li W, Lamoreux ML, Ito S, Wakamatsu K, et al. 2005. Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells. Proc. Natl. Acad. Sci. USA 102:10964-69
-
(2005)
Proc. Natl. Acad. Sci. USA
, vol.102
, pp. 10964-10969
-
-
Chintala, S.1
Li, W.2
Lamoreux, M.L.3
Ito, S.4
Wakamatsu, K.5
-
16
-
-
34447133038
-
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J
-
Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, et al. 2007. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature 448:68-72
-
(2007)
Nature
, vol.448
, pp. 68-72
-
-
Chow, C.Y.1
Zhang, Y.2
Dowling, J.J.3
Jin, N.4
Adamska, M.5
-
17
-
-
0035658298
-
Actin filaments and myosin I alpha cooperate with microtubules for the movement of lysosomes
-
Cordonnier MN, Dauzonne D, Louvard D, Coudrier E. 2001. Actin filaments and myosin I alpha cooperate with microtubules for the movement of lysosomes. Mol. Biol. Cell 12:4013-29
-
(2001)
Mol. Biol. Cell
, vol.12
, pp. 4013-4029
-
-
Cordonnier, M.N.1
Dauzonne, D.2
Louvard, D.3
Coudrier, E.4
-
18
-
-
0034308278
-
The 'ins' and 'outs' of intermediate filament organization
-
Coulombe PA, Bousquet O, Ma L, Yamada S, Wirtz D. 2000. The 'ins' and 'outs' of intermediate filament organization. Trends Cell Biol. 10:420-28
-
(2000)
Trends Cell Biol
, vol.10
, pp. 420-428
-
-
Coulombe, P.A.1
Bousquet, O.2
Ma, L.3
Yamada, S.4
Wirtz, D.5
-
19
-
-
0037415607
-
Dynactin is required for bidirectional organelle transport
-
Deacon SW, Serpinskaya AS, Vaughan PS, Lopez Fanarraga M, Vernos I, et al. 2003. Dynactin is required for bidirectional organelle transport. J. Cell Biol. 160:297-301
-
(2003)
J. Cell Biol
, vol.160
, pp. 297-301
-
-
Deacon, S.W.1
Serpinskaya, A.S.2
Vaughan, P.S.3
Lopez Fanarraga, M.4
Vernos, I.5
-
21
-
-
0033007616
-
Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the β3A subunit of the AP-3 adaptor
-
Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS. 1999. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the β3A subunit of the AP-3 adaptor. Mol. Cell 3:11-21
-
(1999)
Mol. Cell
, vol.3
, pp. 11-21
-
-
Dell'Angelica, E.C.1
Shotelersuk, V.2
Aguilar, R.C.3
Gahl, W.A.4
Bonifacino, J.S.5
-
22
-
-
34547986066
-
Should I stay or should I go?': Myosin V function in organelle trafficking
-
Desnos C, Huet S, Darchen F. 2007. 'Should I stay or should I go?': myosin V function in organelle trafficking. Biol. Cell 99:411-23
-
(2007)
Biol. Cell
, vol.99
, pp. 411-423
-
-
Desnos, C.1
Huet, S.2
Darchen, F.3
-
23
-
-
12944252970
-
Rab geranylgeranyl transferase amutation in the gunmetal mouse reduces Rab prenylation and platelet synthesis
-
Detter JC, Zhang Q, Mules EH, Novak EK, Mishra VS, et al. 2000. Rab geranylgeranyl transferase amutation in the gunmetal mouse reduces Rab prenylation and platelet synthesis. Proc. Natl. Acad. Sci. USA 97:4144-49
-
(2000)
Proc. Natl. Acad. Sci. USA
, vol.97
, pp. 4144-4149
-
-
Detter, J.C.1
Zhang, Q.2
Mules, E.H.3
Novak, E.K.4
Mishra, V.S.5
-
24
-
-
1842588760
-
Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6
-
Di Pietro SM, Falcon-Perez JM, Dell'Angelica EC. 2004. Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. Traffic 5:276-83
-
(2004)
Traffic
, vol.5
, pp. 276-283
-
-
Di Pietro, S.M.1
Falcon-Perez, J.M.2
Dell'Angelica, E.C.3
-
25
-
-
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, Setty SR, Marks MS, et al. 2006. BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes. Mol. Biol. Cell 17:4027-38
-
(2006)
Mol. Biol. Cell
, vol.17
, pp. 4027-4038
-
-
Di Pietro, S.M.1
Falcon-Perez, J.M.2
Tenza, D.3
Setty, S.R.4
Marks, M.S.5
-
26
-
-
33846241710
-
The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5)
-
Falcon-Perez JM, Romero-Calderon R, Brooks ES, Krantz DE, Dell'Angelica EC. 2007. The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5). Traffic 8:154-68
-
(2007)
Traffic
, vol.8
, pp. 154-168
-
-
Falcon-Perez, J.M.1
Romero-Calderon, R.2
Brooks, E.S.3
Krantz, D.E.4
Dell'Angelica, E.C.5
-
27
-
-
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, Dell'Angelica EC. 2002. BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules. J. Biol. Chem. 277:28191-99
-
(2002)
J. Biol. Chem
, vol.277
, pp. 28191-28199
-
-
Falcon-Perez, J.M.1
Starcevic, M.2
Gautam, R.3
Dell'Angelica, E.C.4
-
29
-
-
33745083115
-
Innate immunity defects in Hermansky-Pudlak type 2 syndrome
-
Fontana S, Parolini S, Vermi W, Booth S, Gallo F, et al. 2006. Innate immunity defects in Hermansky-Pudlak type 2 syndrome. Blood 107:4857-64
-
(2006)
Blood
, vol.107
, pp. 4857-4864
-
-
Fontana, S.1
Parolini, S.2
Vermi, W.3
Booth, S.4
Gallo, F.5
-
30
-
-
19244382144
-
Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome)
-
Gahl WA, Brandy M, Kaiser-Kupfer MI, Iwata F, Hazelwood S, et al. 1998. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N. Engl. J. Med. 338:1258-64
-
(1998)
N. Engl. J. Med
, vol.338
, pp. 1258-1264
-
-
Gahl, W.A.1
Brandy, M.2
Kaiser-Kupfer, M.I.3
Iwata, F.4
Hazelwood, S.5
-
31
-
-
0036376666
-
Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome
-
Gahl WA, Brandy M, Troendle J, Avila NA, Padua A, et al. 2002. Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome. Mol. Genet. Metab. 76:234-42
-
(2002)
Mol. Genet. Metab
, vol.76
, pp. 234-242
-
-
Gahl, W.A.1
Brandy, M.2
Troendle, J.3
Avila, N.A.4
Padua, A.5
-
32
-
-
0842322951
-
Familial mutations of the transcription factor RUNX1 (AML1, CBFA2) predispose to acute myeloid leukemia
-
Ganly P, Walker LC, Morris CM. 2004. Familial mutations of the transcription factor RUNX1 (AML1, CBFA2) predispose to acute myeloid leukemia. Leuk. Lymphoma 45:1-10
-
(2004)
Leuk. Lymphoma
, vol.45
, pp. 1-10
-
-
Ganly, P.1
Walker, L.C.2
Morris, C.M.3
-
33
-
-
0032146206
-
Decreased synthesis of glycosphingolipids in cells lacking vimentin intermediate filaments
-
Gillard BK, Clement R, Colucci-Guyon E, Babinet C, Schwarzmann G, et al. 1998. Decreased synthesis of glycosphingolipids in cells lacking vimentin intermediate filaments. Exp. Cell Res. 242:561-72
-
(1998)
Exp. Cell Res
, vol.242
, pp. 561-572
-
-
Gillard, B.K.1
Clement, R.2
Colucci-Guyon, E.3
Babinet, C.4
Schwarzmann, G.5
-
34
-
-
12144290067
-
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
-
Gissen P, Johnson CA, Morgan NV, Stapelbroek JM, Forshew T, et al. 2004. Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Nat. Genet. 36:400-4
-
(2004)
Nat. Genet
, vol.36
, pp. 400-404
-
-
Gissen, P.1
Johnson, C.A.2
Morgan, N.V.3
Stapelbroek, J.M.4
Forshew, T.5
-
35
-
-
0036916738
-
Thrombocytopenia-absent radius syndrome: A clinical genetic study
-
Greenhalgh KL, Howell RT, Bottani A, Ancliff PJ, Brunner HG, et al. 2002. Thrombocytopenia-absent radius syndrome: a clinical genetic study. J. Med. Genet. 39:876-81
-
(2002)
J. Med. Genet
, vol.39
, pp. 876-881
-
-
Greenhalgh, K.L.1
Howell, R.T.2
Bottani, A.3
Ancliff, P.J.4
Brunner, H.G.5
-
36
-
-
0035490884
-
The endocytic pathway: A mosaic of domains
-
Gruenberg J. 2001. The endocytic pathway: a mosaic of domains. Nat. Rev. Mol. Cell Biol. 2:721-30
-
(2001)
Nat. Rev. Mol. Cell Biol
, vol.2
, pp. 721-730
-
-
Gruenberg, J.1
-
37
-
-
0033402823
-
Processing and targeting of granule proteins in human neutrophils
-
Gullberg U, Bengtsson N, Bülow E, Garwicz D, Lindmark A, Olsson I. 1999. Processing and targeting of granule proteins in human neutrophils. J. Immunol. Methods 232:201-10
-
(1999)
J. Immunol. Methods
, vol.232
, pp. 201-210
-
-
Gullberg, U.1
Bengtsson, N.2
Bülow, E.3
Garwicz, D.4
Lindmark, A.5
Olsson, I.6
-
39
-
-
0036421986
-
Biogenesis of Weibel-Palade bodies
-
Hannah MJ, Williams R, Kaur J, Hewlett LJ, Cutler DF. 2002. Biogenesis of Weibel-Palade bodies. Semin. Cell Dev. Biol. 13:313-24
-
(2002)
Semin. Cell Dev. Biol
, vol.13
, pp. 313-324
-
-
Hannah, M.J.1
Williams, R.2
Kaur, J.3
Hewlett, L.J.4
Cutler, D.F.5
-
40
-
-
0002822296
-
Kinesin participates in melanosomal movement along melanocyte dendrites
-
Hara M, Yaar M, Byers HR, Goukassian D, Fine RE, et al. 2000. Kinesin participates in melanosomal movement along melanocyte dendrites. J. Invest. Dermatol. 114:438-43
-
(2000)
J. Invest. Dermatol
, vol.114
, pp. 438-443
-
-
Hara, M.1
Yaar, M.2
Byers, H.R.3
Goukassian, D.4
Fine, R.E.5
-
41
-
-
0029449012
-
Intracellular organelles involved in antigen processing and the binding of peptides to class II MHC molecules
-
Harding C. 1995. Intracellular organelles involved in antigen processing and the binding of peptides to class II MHC molecules. Semin. Immun. 7:355-60
-
(1995)
Semin. Immun
, vol.7
, pp. 355-360
-
-
Harding, C.1
-
42
-
-
0032055178
-
Multivesicular bodies are an intermediate stage in the formation of platelet α-granules
-
Heijnen HF, Debili N, Vainchencker W, Breton-Gorius J, Geuze HJ, Sixma JJ. 1998. Multivesicular bodies are an intermediate stage in the formation of platelet α-granules. Blood 91:2313-25
-
(1998)
Blood
, vol.91
, pp. 2313-2325
-
-
Heijnen, H.F.1
Debili, N.2
Vainchencker, W.3
Breton-Gorius, J.4
Geuze, H.J.5
Sixma, J.J.6
-
43
-
-
25444443991
-
Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin
-
Helip-Wooley A, Westbroek W, Dorward H, Mommaas M, Boissy RE, et al. 2005. Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin. BMC Cell Biol. 6:33
-
(2005)
BMC Cell Biol
, vol.6
, pp. 33
-
-
Helip-Wooley, A.1
Westbroek, W.2
Dorward, H.3
Mommaas, M.4
Boissy, R.E.5
-
44
-
-
34248570957
-
Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5
-
Helip-Wooley A, Westbroek W, Dorward HM, Koshoffer A, Huizing M, et al. 2007. Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5. J. Invest. Dermatol. 127:1471-78
-
(2007)
J. Invest. Dermatol
, vol.127
, pp. 1471-1478
-
-
Helip-Wooley, A.1
Westbroek, W.2
Dorward, H.M.3
Koshoffer, A.4
Huizing, M.5
-
45
-
-
18744416639
-
Hermansky-Pudlak syndrome type 1: Gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases
-
Hermos CR, Huizing M, Kaiser-Kupfer MI, Gahl WA. 2002. Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases. Hum. Mutat. 20:482
-
(2002)
Hum. Mutat
, vol.20
, pp. 482
-
-
Hermos, C.R.1
Huizing, M.2
Kaiser-Kupfer, M.I.3
Gahl, W.A.4
-
46
-
-
34250880140
-
Intermediate filaments: From cell architecture to nanomechanics
-
Herrmann H, Bar H, Kreplak L, Strelkov SV, Aebi U. 2007. Intermediate filaments: from cell architecture to nanomechanics. Nat. Rev. Mol. Cell Biol. 8:562-73
-
(2007)
Nat. Rev. Mol. Cell Biol
, vol.8
, pp. 562-573
-
-
Herrmann, H.1
Bar, H.2
Kreplak, L.3
Strelkov, S.V.4
Aebi, U.5
-
47
-
-
0642377462
-
Biochemical and molecular characterization of diseases linked to motor proteins
-
Hirokawa N, Takemura R. 2003. Biochemical and molecular characterization of diseases linked to motor proteins. Trends Biochem. Sci. 28:558-65
-
(2003)
Trends Biochem. Sci
, vol.28
, pp. 558-565
-
-
Hirokawa, N.1
Takemura, R.2
-
48
-
-
4844231295
-
A novel RAB7 mutation associated with ulcero-mutilating neuropathy
-
Houlden H, King RH, Muddle JR, Warner TT, Reilly MM, et al. 2004. A novel RAB7 mutation associated with ulcero-mutilating neuropathy. Ann. Neurol. 56:586-90
-
(2004)
Ann. Neurol
, vol.56
, pp. 586-590
-
-
Houlden, H.1
King, R.H.2
Muddle, J.R.3
Warner, T.T.4
Reilly, M.M.5
-
49
-
-
0034764945
-
Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency
-
Huizing M, Anikster Y, Fitzpatrick DL, Jeong AB, D'Souza M, et al. 2001. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. Am. J. Hum. Genet. 69:1022-32
-
(2001)
Am. J. Hum. Genet
, vol.69
, pp. 1022-1032
-
-
Huizing, M.1
Anikster, Y.2
Fitzpatrick, D.L.3
Jeong, A.B.4
D'Souza, M.5
-
50
-
-
18744385809
-
Hermansky-Pudlak syndrome: Vesicle formation from yeast to man
-
Huizing M, Boissy RE, Gahl WA. 2002. Hermansky-Pudlak syndrome: vesicle formation from yeast to man. Pigment Cell Res. 15:405-19
-
(2002)
Pigment Cell Res
, vol.15
, pp. 405-419
-
-
Huizing, M.1
Boissy, R.E.2
Gahl, W.A.3
-
51
-
-
0035990977
-
Disorders of vesicles of lysosomal lineage: The Hermansky-Pudlak syndromes
-
Huizing M, Gahl WA. 2002. Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes. Curr. Mol. Med. 2:451-67
-
(2002)
Curr. Mol. Med
, vol.2
, pp. 451-467
-
-
Huizing, M.1
Gahl, W.A.2
-
52
-
-
4444367420
-
Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5
-
Huizing M, Hess R, Dorward H, Claassen DA, Helip-Wooley A, et al. 2004. Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. Traffic 5:711-22
-
(2004)
Traffic
, vol.5
, pp. 711-722
-
-
Huizing, M.1
Hess, R.2
Dorward, H.3
Claassen, D.A.4
Helip-Wooley, A.5
-
53
-
-
0035150104
-
AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes
-
Huizing M, Sarangarajan R, Strovel E, Zhao Y, Gahl WA, Boissy RE. 2001. AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes. Mol. Biol. Cell 12:2075-85
-
(2001)
Mol. Biol. Cell
, vol.12
, pp. 2075-2085
-
-
Huizing, M.1
Sarangarajan, R.2
Strovel, E.3
Zhao, Y.4
Gahl, W.A.5
Boissy, R.E.6
-
54
-
-
0036157244
-
Nonsense mutations in ADTB3A cause complete deficiency of the β3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2
-
Huizing M, Scher C, Strovel E, Fitzpatrick D, Hartnell L, et al. 2002. Nonsense mutations in ADTB3A cause complete deficiency of the β3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. Pediatr. Res. 51:150-58
-
(2002)
Pediatr. Res
, vol.51
, pp. 150-158
-
-
Huizing, M.1
Scher, C.2
Strovel, E.3
Fitzpatrick, D.4
Hartnell, L.5
-
55
-
-
31144475366
-
Intestinal disease in Hermansky-Pudlak syndrome: Occurrence of colitis and relation to genotype
-
Hussain N, Quezado M, Huizing M, Geho D, White JG, et al. 2006. Intestinal disease in Hermansky-Pudlak syndrome: occurrence of colitis and relation to genotype. Clin. Gastroenterol. Hepatol. 4:73-80
-
(2006)
Clin. Gastroenterol. Hepatol
, vol.4
, pp. 73-80
-
-
Hussain, N.1
Quezado, M.2
Huizing, M.3
Geho, D.4
White, J.G.5
-
56
-
-
0032729471
-
Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome
-
Introne W, Boissy RE, Gahl WA. 1999. Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome. Mol. Genet. Metab. 68:283-303
-
(1999)
Mol. Genet. Metab
, vol.68
, pp. 283-303
-
-
Introne, W.1
Boissy, R.E.2
Gahl, W.A.3
-
57
-
-
0035975946
-
The Rab7 effector protein RILP controls lysosomal transport by inducing the recruitment of dynein-dynactin motors
-
Jordens I, Fernandez-Borja M, Marsman M, Dusseljee S, Janssen L, et al. 2001. The Rab7 effector protein RILP controls lysosomal transport by inducing the recruitment of dynein-dynactin motors. Curr. Biol. 11:1680-85
-
(2001)
Curr. Biol
, vol.11
, pp. 1680-1685
-
-
Jordens, I.1
Fernandez-Borja, M.2
Marsman, M.3
Dusseljee, S.4
Janssen, L.5
-
59
-
-
18244405827
-
Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome
-
Karim MA, Suzuki K, Fukai K, Oh J, Nagle DL, et al. 2002. Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. Am. J. Med. Genet. 108:16-22
-
(2002)
Am. J. Med. Genet
, vol.108
, pp. 16-22
-
-
Karim, M.A.1
Suzuki, K.2
Fukai, K.3
Oh, J.4
Nagle, D.L.5
-
60
-
-
15944399347
-
Perforin and lymphohistiocytic proliferative disorders
-
Katano H, Cohen JI. 2005. Perforin and lymphohistiocytic proliferative disorders. Br. J. Haematol. 128:739-50
-
(2005)
Br. J. Haematol
, vol.128
, pp. 739-750
-
-
Katano, H.1
Cohen, J.I.2
-
61
-
-
0002580694
-
Albinism
-
ed. CR Scriver, AL Beaudet, WS Sly, DL Valle. pp, New York: McGraw-Hill
-
King RA, Hearing VJ, Creel DJ, Oetting WS. 2001. Albinism. In The Metabolic and Molecular Bases of Inherited Disease, ed. CR Scriver, AL Beaudet, WS Sly, DL Valle. pp. 5587-627. New York: McGraw-Hill
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 5587-5627
-
-
King, R.A.1
Hearing, V.J.2
Creel, D.J.3
Oetting, W.S.4
-
62
-
-
0036422093
-
Development of platelet secretory granules
-
King SM, Reed GL. 2002. Development of platelet secretory granules. Semin. Cell Dev. Biol. 13:293-302
-
(2002)
Semin. Cell Dev. Biol
, vol.13
, pp. 293-302
-
-
King, S.M.1
Reed, G.L.2
-
63
-
-
0031745886
-
Giant granules of neutrophils in Chediak-Higashi syndrome are derived from azurophil granules but not from specific and gelatinase granules
-
Kjeldsen L, Calafat J, Borregaard N. 1998. Giant granules of neutrophils in Chediak-Higashi syndrome are derived from azurophil granules but not from specific and gelatinase granules. J. Leukoc. Biol. 64:72-77
-
(1998)
J. Leukoc. Biol
, vol.64
, pp. 72-77
-
-
Kjeldsen, L.1
Calafat, J.2
Borregaard, N.3
-
64
-
-
33846562388
-
Complex inheritance pattern resembling autosomal recessive inhetitance involving a microdeletion in thrombocytopenia-absent radius syndrome
-
Klopocki E, Schulze H, Strauss G, Ott CE, Hall J, et al. 2007. Complex inheritance pattern resembling autosomal recessive inhetitance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am. J. Hum. Genet. 80:232-40
-
(2007)
Am. J. Hum. Genet
, vol.80
, pp. 232-240
-
-
Klopocki, E.1
Schulze, H.2
Strauss, G.3
Ott, C.E.4
Hall, J.5
-
66
-
-
0036104999
-
Sorting out signals in fly endosomes
-
Kramer H. 2002. Sorting out signals in fly endosomes. Traffic 3:87-91
-
(2002)
Traffic
, vol.3
, pp. 87-91
-
-
Kramer, H.1
-
67
-
-
2942562170
-
Murine Hermansky-Pudlak syndrome genes: Regulators of lysosome-related organelles
-
Li W, Rusiniak ME, Chintala S, Gautam R, Novak EK, Swank RT. 2004. Murine Hermansky-Pudlak syndrome genes: regulators of lysosome-related organelles. BioEssays 26:616-28
-
(2004)
BioEssays
, vol.26
, pp. 616-628
-
-
Li, W.1
Rusiniak, M.E.2
Chintala, S.3
Gautam, R.4
Novak, E.K.5
Swank, R.T.6
-
68
-
-
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, Novak EK, Gautam R, et al. 2003. 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. 35:84-89
-
(2003)
Nat. Genet
, vol.35
, pp. 84-89
-
-
Li, W.1
Zhang, Q.2
Oiso, N.3
Novak, E.K.4
Gautam, R.5
-
69
-
-
0032404540
-
Not just pretty eyes: Drosophila eye-colour mutations and lysosomal delivery
-
Lloyd V, Ramaswami AI, Kramer H. 1998. Not just pretty eyes: Drosophila eye-colour mutations and lysosomal delivery. Trends Cell Biol. 8:257-59
-
(1998)
Trends Cell Biol
, vol.8
, pp. 257-259
-
-
Lloyd, V.1
Ramaswami, A.I.2
Kramer, H.3
-
70
-
-
0037007022
-
Mutation of melanosome protein RAB38 in chocolate mice
-
Loftus S, Larson DM, Baxter LL, Antonellis A, Chen Y, et al. 2002. Mutation of melanosome protein RAB38 in chocolate mice. Proc. Natl. Acad. Sci. USA 99:4471-76
-
(2002)
Proc. Natl. Acad. Sci. USA
, vol.99
, pp. 4471-4476
-
-
Loftus, S.1
Larson, D.M.2
Baxter, L.L.3
Antonellis, A.4
Chen, Y.5
-
71
-
-
0035490904
-
The melanosome: Membrane dynamics in black and white
-
Marks MS, Seabra MC. 2001. The melanosome: membrane dynamics in black and white. Nat. Rev. Mol. Cell Biol. 2:738-48
-
(2001)
Nat. Rev. Mol. Cell Biol
, vol.2
, pp. 738-748
-
-
Marks, M.S.1
Seabra, M.C.2
-
72
-
-
0030759929
-
Molecular and cellular biology of mast cells and basophils
-
Marone G, Casolaro V, Patella V, Florio G, Triggiani M. 1997. Molecular and cellular biology of mast cells and basophils. Int. Arch. Allergy Immunol. 114:207-17
-
(1997)
Int. Arch. Allergy Immunol
, vol.114
, pp. 207-217
-
-
Marone, G.1
Casolaro, V.2
Patella, V.3
Florio, G.4
Triggiani, M.5
-
73
-
-
0043208690
-
BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4
-
Martina J, Moriyama K, Bonifacino J. 2003. BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. J. Biol. Chem. 278:29376-84
-
(2003)
J. Biol. Chem
, vol.278
, pp. 29376-29384
-
-
Martina, J.1
Moriyama, K.2
Bonifacino, J.3
-
74
-
-
0033165875
-
Platelet dense granules: Structure, function and implications for haemostasis
-
McNicol A, Israels SJ. 1999. Platelet dense granules: structure, function and implications for haemostasis. Thromb. Res. 95:1-18
-
(1999)
Thromb. Res
, vol.95
, pp. 1-18
-
-
McNicol, A.1
Israels, S.J.2
-
75
-
-
0019175608
-
Morphologic and biochemical abnormalities of kidney lysosomes in mice with an inherited albinism
-
Meisler M, Levy J, Sansone F, Gordon M. 1980. Morphologic and biochemical abnormalities of kidney lysosomes in mice with an inherited albinism. Am. J. Pathol. 101:581-93
-
(1980)
Am. J. Pathol
, vol.101
, pp. 581-593
-
-
Meisler, M.1
Levy, J.2
Sansone, F.3
Gordon, M.4
-
76
-
-
0023811906
-
Storage pool deficiency in cattle with the Chediak-Higashi syndrome results from an absence of dense granule precursors in their megakaryocytes
-
Menard M, Meyers KM. 1988. Storage pool deficiency in cattle with the Chediak-Higashi syndrome results from an absence of dense granule precursors in their megakaryocytes. Blood 72:1726-34
-
(1988)
Blood
, vol.72
, pp. 1726-1734
-
-
Menard, M.1
Meyers, K.M.2
-
77
-
-
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, Feldmann J, Tezcan I, et al. 2003. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). J. Clin. Invest. 112:450-56
-
(2003)
J. Clin. Invest
, vol.112
, pp. 450-456
-
-
Menasche, G.1
Ho, C.H.2
Sanal, O.3
Feldmann, J.4
Tezcan, I.5
-
78
-
-
0344002689
-
Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome
-
Menasche G, Pastural E, Feldmann J, Certain S, Ersoy F, et al. 2000. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat. Genet. 25:173-76
-
(2000)
Nat. Genet
, vol.25
, pp. 173-176
-
-
Menasche, G.1
Pastural, E.2
Feldmann, J.3
Certain, S.4
Ersoy, F.5
-
79
-
-
24344465919
-
Analysis of the kinesin superfamily: Insights into structure and function
-
Miki H, Okada Y, Hirokawa N. 2005. Analysis of the kinesin superfamily: insights into structure and function. Trends Cell Biol. 15:467-76
-
(2005)
Trends Cell Biol
, vol.15
, pp. 467-476
-
-
Miki, H.1
Okada, Y.2
Hirokawa, N.3
-
80
-
-
29244443387
-
A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)
-
Morgan NV, Pasha S, Johnson CA, Ainsworth JR, Eady RAJ, et al. 2006. A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). Am. J. Hum. Genet. 78:160-66
-
(2006)
Am. J. Hum. Genet
, vol.78
, pp. 160-166
-
-
Morgan, N.V.1
Pasha, S.2
Johnson, C.A.3
Ainsworth, J.R.4
Eady, R.A.J.5
-
81
-
-
0036701891
-
Organelle identity and the targeting of peripheral membrane proteins
-
Munro S. 2002. Organelle identity and the targeting of peripheral membrane proteins. Curr. Opin. Cell Biol. 14:506-14
-
(2002)
Curr. Opin. Cell Biol
, vol.14
, pp. 506-514
-
-
Munro, S.1
-
82
-
-
0033829367
-
Interstitial pneumonia in Hermansky-Pudlak syndrome: Significance of florid foamy swelling/degeneration (giant lamellar body degeneration) of type-2 pneumocytes
-
Nakatani Y, Nakamuta N, Sano J, Inayama Y, Kawano N, et al. 2000. Interstitial pneumonia in Hermansky-Pudlak syndrome: significance of florid foamy swelling/degeneration (giant lamellar body degeneration) of type-2 pneumocytes. Virchows. Arch. 437:304-13
-
(2000)
Virchows. Arch
, vol.437
, pp. 304-313
-
-
Nakatani, Y.1
Nakamuta, N.2
Sano, J.3
Inayama, Y.4
Kawano, N.5
-
83
-
-
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. 2003. 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 100:8770-75
-
(2003)
Proc. Natl. Acad. Sci. USA
, vol.100
, pp. 8770-8775
-
-
Nazarian, R.1
Falcon-Perez, J.M.2
Dell'Angelica, E.C.3
-
84
-
-
38049022462
-
An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome
-
Nazarian R, Huizing M, Helip-Wooley A, Starcevic M, Gahl W, Dell'Angelica E. 2007. An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome. Mol. Genet. Metab. 93:134-44
-
(2007)
Mol. Genet. Metab
, vol.93
, pp. 134-144
-
-
Nazarian, R.1
Huizing, M.2
Helip-Wooley, A.3
Starcevic, M.4
Gahl, W.5
Dell'Angelica, E.6
-
85
-
-
33646247180
-
Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding protein
-
Nazarian R, Starcevic M, Spencer MJ, Dell'Angelica EC. 2006. Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding protein. Biochem. J. 395:587-98
-
(2006)
Biochem. J
, vol.395
, pp. 587-598
-
-
Nazarian, R.1
Starcevic, M.2
Spencer, M.J.3
Dell'Angelica, E.C.4
-
86
-
-
0034052854
-
Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1
-
Nichols KE, Crispino JD, Poncz M, White JG, Orkin SH, et al. 2000. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nat. Genet. 24:266-70
-
(2000)
Nat. Genet
, vol.24
, pp. 266-270
-
-
Nichols, K.E.1
Crispino, J.D.2
Poncz, M.3
White, J.G.4
Orkin, S.H.5
-
87
-
-
0023608663
-
Patients with a prolonged bleeding time and normal aggregation tests may have storage pool deficiency: Studies on one hundred six patients
-
Nieuwenhuis HK, Akkerman JW, Sixma JJ. 1987. Patients with a prolonged bleeding time and normal aggregation tests may have storage pool deficiency: studies on one hundred six patients. Blood 70:620-23
-
(1987)
Blood
, vol.70
, pp. 620-623
-
-
Nieuwenhuis, H.K.1
Akkerman, J.W.2
Sixma, J.J.3
-
88
-
-
0029856044
-
A fusion pore phenotype in mast cells of the ruby-eye mouse
-
Oberhauser A, Fernandez J. 1996. A fusion pore phenotype in mast cells of the ruby-eye mouse. Proc. Natl. Acad. Sci. USA 93:14349-54
-
(1996)
Proc. Natl. Acad. Sci. USA
, vol.93
, pp. 14349-14354
-
-
Oberhauser, A.1
Fernandez, J.2
-
89
-
-
0032476017
-
The medium subunits of adaptor complexes recognize distinct but overlapping sets of tyrosine-based sorting signals
-
Ohno H, Aguilar RC, Yeh D, Taura D, Saito T, Bonifacino JS. 1998. The medium subunits of adaptor complexes recognize distinct but overlapping sets of tyrosine-based sorting signals. J. Biol. Chem. 273:25915-21
-
(1998)
J. Biol. Chem
, vol.273
, pp. 25915-25921
-
-
Ohno, H.1
Aguilar, R.C.2
Yeh, D.3
Taura, D.4
Saito, T.5
Bonifacino, J.S.6
-
90
-
-
1842556755
-
The rat Ruby (R) locus is Rab38: Identical mutations in Fawn-hooded and Tester-Moriyama rats derived from an ancestral Long Evans rat substrain
-
Oiso N, Riddle SR, Serikawa T, Kuramoto T, Spritz RA. 2004. The rat Ruby (R) locus is Rab38: identical mutations in Fawn-hooded and Tester-Moriyama rats derived from an ancestral Long Evans rat substrain. Mamm. Genome 15:307-14
-
(2004)
Mamm. Genome
, vol.15
, pp. 307-314
-
-
Oiso, N.1
Riddle, S.R.2
Serikawa, T.3
Kuramoto, T.4
Spritz, R.A.5
-
91
-
-
33846163431
-
When intracellular logistics fails-genetic defects in membrane trafficking
-
Olkkonen VM, Ikonen E. 2006. When intracellular logistics fails-genetic defects in membrane trafficking. J. Cell Sci. 119:5031-45
-
(2006)
J. Cell Sci
, vol.119
, pp. 5031-5045
-
-
Olkkonen, V.M.1
Ikonen, E.2
-
92
-
-
0034693145
-
Kinectin-kinesin binding domains and their effects on organelle motility
-
Ong LL, Lim AP, Er CP, Kuznetsov SA, Yu H. 2000. Kinectin-kinesin binding domains and their effects on organelle motility. J. Biol. Chem. 275:32854-60
-
(2000)
J. Biol. Chem
, vol.275
, pp. 32854-32860
-
-
Ong, L.L.1
Lim, A.P.2
Er, C.P.3
Kuznetsov, S.A.4
Yu, H.5
-
93
-
-
0030914460
-
Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene
-
Pastural E, Barrat FJ, Dufourcq-Lagelouse R, Certain S, Sanal O, et al. 1997. Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene. Nat. Genet. 16:289-92
-
(1997)
Nat. Genet
, vol.16
, pp. 289-292
-
-
Pastural, E.1
Barrat, F.J.2
Dufourcq-Lagelouse, R.3
Certain, S.4
Sanal, O.5
-
94
-
-
0035279058
-
SNAREs and the specificity of membrane fusion
-
Pelham HR. 2001. SNAREs and the specificity of membrane fusion. Trends Cell Biol. 11:99-101
-
(2001)
Trends Cell Biol
, vol.11
, pp. 99-101
-
-
Pelham, H.R.1
-
95
-
-
33645778345
-
Genetic analysis of the cytoplasmic dynein subunit families
-
Pfister KK, Shah PR, Hummerich H, Russ A, Cotton J, et al. 2006. Genetic analysis of the cytoplasmic dynein subunit families. PLoS Genet. 2:e1
-
(2006)
PLoS Genet
, vol.2
-
-
Pfister, K.K.1
Shah, P.R.2
Hummerich, H.3
Russ, A.4
Cotton, J.5
-
96
-
-
2942575037
-
Structure of the Rab7:REP-1 complex: Insights into the mechanism of Rab prenylation and choroideremia disease
-
Rak A, Pylypenko O, Niculae A, Pyatkov K, Goody RS, Alexandrov K. 2004. Structure of the Rab7:REP-1 complex: insights into the mechanism of Rab prenylation and choroideremia disease. Cell 117:749-60
-
(2004)
Cell
, vol.117
, pp. 749-760
-
-
Rak, A.1
Pylypenko, O.2
Niculae, A.3
Pyatkov, K.4
Goody, R.S.5
Alexandrov, K.6
-
97
-
-
34648828526
-
Melanosomes-dark organelles enlighten endosomal membrane transport
-
Raposo G, Marks MS. 2007. Melanosomes-dark organelles enlighten endosomal membrane transport. Nat. Rev. Mol. Cell Biol. 8:786-97
-
(2007)
Nat. Rev. Mol. Cell Biol
, vol.8
, pp. 786-797
-
-
Raposo, G.1
Marks, M.S.2
-
98
-
-
34547929585
-
Lysosome-related organelles: Driving post-Golgi compartments into specialisation
-
Raposo G, Marks MS, Cutler DF. 2007. Lysosome-related organelles: driving post-Golgi compartments into specialisation. Curr. Opin. Cell Biol. 19:394-401
-
(2007)
Curr. Opin. Cell Biol
, vol.19
, pp. 394-401
-
-
Raposo, G.1
Marks, M.S.2
Cutler, D.F.3
-
99
-
-
0035911146
-
Distinct protein sorting and localization to premelanosomes, melanosomes, and lysosomes in pigmented melanocytic cells
-
Raposo G, Tenza D, Murphy DM, Berson JF, Marks MS. 2001. Distinct protein sorting and localization to premelanosomes, melanosomes, and lysosomes in pigmented melanocytic cells. J. Cell Biol. 152:809-24
-
(2001)
J. Cell Biol
, vol.152
, pp. 809-824
-
-
Raposo, G.1
Tenza, D.2
Murphy, D.M.3
Berson, J.F.4
Marks, M.S.5
-
100
-
-
0034902812
-
The platelet release reaction: Granules' constituents, secretion and functions
-
Rendu F, Brohard-Bohn B. 2001. The platelet release reaction: granules' constituents, secretion and functions. Platelets 12:261-73
-
(2001)
Platelets
, vol.12
, pp. 261-273
-
-
Rendu, F.1
Brohard-Bohn, B.2
-
101
-
-
0034786578
-
Abnormal translocation of tyrosinase and tyrosinase-related protein 1 in cutaneous melanocytes of Hermansky-Pudlak syndrome and in melanoma cells transfected with antisense HPS1 cDNA
-
Sarangarajan R, Budev A, Zhao Y, Gahl WA, Boissy RE. 2001. Abnormal translocation of tyrosinase and tyrosinase-related protein 1 in cutaneous melanocytes of Hermansky-Pudlak syndrome and in melanoma cells transfected with antisense HPS1 cDNA. J. Invest. Dermatol. 117:641-46
-
(2001)
J. Invest. Dermatol
, vol.117
, pp. 641-646
-
-
Sarangarajan, R.1
Budev, A.2
Zhao, Y.3
Gahl, W.A.4
Boissy, R.E.5
-
102
-
-
0032550366
-
Conversion of membrane-bound Fas(CD95) ligand to its soluble form is associated with downregulation of its proapoptotic activity and loss of liver toxicity
-
Schneider P, Holler N, Bodmer JL, Hahne M, Frei K, et al. 1998. Conversion of membrane-bound Fas(CD95) ligand to its soluble form is associated with downregulation of its proapoptotic activity and loss of liver toxicity. J. Exp. Med. 187:1205-13
-
(1998)
J. Exp. Med
, vol.187
, pp. 1205-1213
-
-
Schneider, P.1
Holler, N.2
Bodmer, J.L.3
Hahne, M.4
Frei, K.5
-
103
-
-
38949136325
-
The zebrafish mutant lbk/vam6 resembles human multisystemic disorders caused by aberrant trafficking of endosomal vesicles
-
Schonthaler HB, Fleisch VC, Biehlmaier O, Makhankov Y, Rinner O, et al. 2008. The zebrafish mutant lbk/vam6 resembles human multisystemic disorders caused by aberrant trafficking of endosomal vesicles. Development 135:387-99
-
(2008)
Development
, vol.135
, pp. 387-399
-
-
Schonthaler, H.B.1
Fleisch, V.C.2
Biehlmaier, O.3
Makhankov, Y.4
Rinner, O.5
-
105
-
-
33947099464
-
BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles
-
Setty SR, Tenza D, Truschel ST, Chou E, Sviderskaya EV, et al. 2007. BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles. Mol. Biol. Cell 18:768-80
-
(2007)
Mol. Biol. Cell
, vol.18
, pp. 768-780
-
-
Setty, S.R.1
Tenza, D.2
Truschel, S.T.3
Chou, E.4
Sviderskaya, E.V.5
-
106
-
-
9144274368
-
Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex
-
Sheen VL, Ganesh VS, Topcu M, Sebire G, Bodell A, et al. 2004. Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. Nat. Genet. 36:69-76
-
(2004)
Nat. Genet
, vol.36
, pp. 69-76
-
-
Sheen, V.L.1
Ganesh, V.S.2
Topcu, M.3
Sebire, G.4
Bodell, A.5
-
107
-
-
22544448096
-
A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma
-
Sprecher E, Ishida-Yamamoto A, Mizrahi-Koren M, Rapaport D, Goldsher D, et al. 2005. A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. Am. J. Hum. Genet. 77:242-51
-
(2005)
Am. J. Hum. Genet
, vol.77
, pp. 242-251
-
-
Sprecher, E.1
Ishida-Yamamoto, A.2
Mizrahi-Koren, M.3
Rapaport, D.4
Goldsher, D.5
-
108
-
-
0034122943
-
Lamellar body formation in normal and surfactant B-deficient mice
-
Stahlman M, Gray M, Falconieri M, Whitsett J, Weaver T. 2000. Lamellar body formation in normal and surfactant B-deficient mice. Lab. Invest. 80:395-402
-
(2000)
Lab. Invest
, vol.80
, pp. 395-402
-
-
Stahlman, M.1
Gray, M.2
Falconieri, M.3
Whitsett, J.4
Weaver, T.5
-
109
-
-
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. 2004. 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. 279:28393-401
-
(2004)
J. Biol. Chem
, vol.279
, pp. 28393-28401
-
-
Starcevic, M.1
Dell'Angelica, E.C.2
-
110
-
-
0036423664
-
Formation and function of the ruffled border in osteoclasts
-
Stenbeck G. 2002. Formation and function of the ruffled border in osteoclasts. Semin. Cell Dev. Biol. 13:285-92
-
(2002)
Semin. Cell Dev. Biol
, vol.13
, pp. 285-292
-
-
Stenbeck, G.1
-
111
-
-
3042793578
-
Linking albinism and immunity: The secrets of secretory lysosomes
-
Stinchcombe J, Bossi G, Griffiths GM. 2004. Linking albinism and immunity: the secrets of secretory lysosomes. Science 305:55-59
-
(2004)
Science
, vol.305
, pp. 55-59
-
-
Stinchcombe, J.1
Bossi, G.2
Griffiths, G.M.3
-
112
-
-
0037067673
-
A family of Rab27-binding proteins. Melanophilin links Rab27a and myosin Va function in melanosome transport
-
Strom M, Hume AN, Tarafder AK, Barkagianni E, Seabra MC. 2002. A family of Rab27-binding proteins. Melanophilin links Rab27a and myosin Va function in melanosome transport. J. Biol. Chem. 277:25423-30
-
(2002)
J. Biol. Chem
, vol.277
, pp. 25423-25430
-
-
Strom, M.1
Hume, A.N.2
Tarafder, A.K.3
Barkagianni, E.4
Seabra, M.C.5
-
113
-
-
9444239263
-
The endo-lysosomal sorting machinery interacts with the intermediate filament cytoskeleton
-
Styers ML, Salazar G, Love R, Peden AA, Kowalczyk AP, Faundez V. 2004. The endo-lysosomal sorting machinery interacts with the intermediate filament cytoskeleton. Mol. Biol. Cell 15:5369-82
-
(2004)
Mol. Biol. Cell
, vol.15
, pp. 5369-5382
-
-
Styers, M.L.1
Salazar, G.2
Love, R.3
Peden, A.A.4
Kowalczyk, A.P.5
Faundez, V.6
-
114
-
-
0023179940
-
The distribution of four lysosomal integral membrane proteins (LIMPs) in rat basophilic leukemia cells
-
Suarez-Quian CA. 1987. The distribution of four lysosomal integral membrane proteins (LIMPs) in rat basophilic leukemia cells. Tissue Cell 19:495-504
-
(1987)
Tissue Cell
, vol.19
, pp. 495-504
-
-
Suarez-Quian, C.A.1
-
115
-
-
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, Karim A, Novak EK, et al. 2002. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat. Genet. 30:321-24
-
(2002)
Nat. Genet
, vol.30
, pp. 321-324
-
-
Suzuki, T.1
Li, W.2
Zhang, Q.3
Karim, A.4
Novak, E.K.5
-
116
-
-
0032044504
-
Mouse models of Hermansky-Pudlak syndrome: A review
-
Swank RT, Novak EK, McGarry MP, Rusiniak ME, Feng L. 1998. Mouse models of Hermansky-Pudlak syndrome: a review. Pigment Cell Res. 11:60-80
-
(1998)
Pigment Cell Res
, vol.11
, pp. 60-80
-
-
Swank, R.T.1
Novak, E.K.2
McGarry, M.P.3
Rusiniak, M.E.4
Feng, L.5
-
117
-
-
27644555189
-
Functions of adaptor protein (AP)-3 and AP-1 in tyrosinase sorting from endosomes to melanosomes
-
Theos AC, Tenza D, Martina JA, Hurbain I, Peden AA, et al. 2005. Functions of adaptor protein (AP)-3 and AP-1 in tyrosinase sorting from endosomes to melanosomes. Mol. Biol. Cell 16:5356-72
-
(2005)
Mol. Biol. Cell
, vol.16
, pp. 5356-5372
-
-
Theos, A.C.1
Tenza, D.2
Martina, J.A.3
Hurbain, I.4
Peden, A.A.5
-
118
-
-
0032798812
-
Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene
-
Toro J, Turner M, Gahl WA. 1999. Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene. Arch. Dermatol. 135:774-80
-
(1999)
Arch. Dermatol
, vol.135
, pp. 774-780
-
-
Toro, J.1
Turner, M.2
Gahl, W.A.3
-
119
-
-
33744937070
-
Subcellular proteomics reveals neuromelanin granules to be a lysosome-related organelle
-
Tribl F, Marcus K, Meyer HE, Bringmann G, Gerlach M, Riederer P. 2006. Subcellular proteomics reveals neuromelanin granules to be a lysosome-related organelle. J. Neural. Transm. 113:741-49
-
(2006)
J. Neural. Transm
, vol.113
, pp. 741-749
-
-
Tribl, F.1
Marcus, K.2
Meyer, H.E.3
Bringmann, G.4
Gerlach, M.5
Riederer, P.6
-
120
-
-
0028937177
-
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene
-
Villa A, Notarangelo L, Macchi P, Mantuano E, Cavagni G, et al. 1995. X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. Nat. Genet. 9:414-17
-
(1995)
Nat. Genet
, vol.9
, pp. 414-417
-
-
Villa, A.1
Notarangelo, L.2
Macchi, P.3
Mantuano, E.4
Cavagni, G.5
-
121
-
-
33750367865
-
Rab38 and Rab32 control post-Golgi trafficking of melanogenic enzymes
-
Wasmeier C, Romao M, Plowright L, Bennett DC, Raposo G, Seabra MC. 2006. Rab38 and Rab32 control post-Golgi trafficking of melanogenic enzymes. J. Cell Biol. 175:271-81
-
(2006)
J. Cell Biol
, vol.175
, pp. 271-281
-
-
Wasmeier, C.1
Romao, M.2
Plowright, L.3
Bennett, D.C.4
Raposo, G.5
Seabra, M.C.6
-
122
-
-
0036428016
-
Biogenesis of lamellar bodies, lysosome-related organelles involved in storage and secretion of pulmonary surfactant
-
Weaver T, Na C, Stahlman M. 2002. Biogenesis of lamellar bodies, lysosome-related organelles involved in storage and secretion of pulmonary surfactant. Semin. Cell Dev. Biol. 13:263-70
-
(2002)
Semin. Cell Dev. Biol
, vol.13
, pp. 263-270
-
-
Weaver, T.1
Na, C.2
Stahlman, M.3
-
123
-
-
33645057693
-
Hermansky-Pudlak syndrome: A disease of protein trafficking and organelle function
-
Wei ML. 2006. Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function. Pigment Cell Res. 19:19-42
-
(2006)
Pigment Cell Res
, vol.19
, pp. 19-42
-
-
Wei, M.L.1
-
124
-
-
0018673733
-
Heterogeneity in storage pool deficiency: Studies on granule-bound substances in 18 patients including variants deficient in α-granules, platelet factor 4, β-thromboglobulin, and platelet-derived growth factor
-
Weiss HJ, Witte LD, Kaplan KL, Lages BA, Chernoff A, et al. 1979. Heterogeneity in storage pool deficiency: studies on granule-bound substances in 18 patients including variants deficient in α-granules, platelet factor 4, β-thromboglobulin, and platelet-derived growth factor. Blood 54:1296-319
-
(1979)
Blood
, vol.54
, pp. 1296-1319
-
-
Weiss, H.J.1
Witte, L.D.2
Kaplan, K.L.3
Lages, B.A.4
Chernoff, A.5
-
125
-
-
34548587654
-
Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype
-
Westbroek W, Adams D, Huizing M, Koshoffer A, Dorward H, et al. 2007. Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype. J. Invest. Dermatol. 127:2674-77
-
(2007)
J. Invest. Dermatol
, vol.127
, pp. 2674-2677
-
-
Westbroek, W.1
Adams, D.2
Huizing, M.3
Koshoffer, A.4
Dorward, H.5
-
126
-
-
0037336463
-
Interactions of human Myosin Va isoforms, endogenously expressed in human melanocytes, are tightly regulated by the tail domain
-
Westbroek W, Lambert J, Bahadoran P, Busca R, Herteleer MC, et al. 2003. Interactions of human Myosin Va isoforms, endogenously expressed in human melanocytes, are tightly regulated by the tail domain. J. Invest. Dermatol. 120:465-75
-
(2003)
J. Invest. Dermatol
, vol.120
, pp. 465-475
-
-
Westbroek, W.1
Lambert, J.2
Bahadoran, P.3
Busca, R.4
Herteleer, M.C.5
-
127
-
-
0037222432
-
Structural insights into actin-binding, branching and bundling proteins
-
Winder SJ. 2003. Structural insights into actin-binding, branching and bundling proteins. Curr. Opin. Cell Biol. 15:14-22
-
(2003)
Curr. Opin. Cell Biol
, vol.15
, pp. 14-22
-
-
Winder, S.J.1
-
128
-
-
0033969154
-
-
Wu X, Jung G, Hammer JA 3rd. 2000. Functions of unconventional myosins. Curr. Opin. Cell Biol. 12:12-51
-
Wu X, Jung G, Hammer JA 3rd. 2000. Functions of unconventional myosins. Curr. Opin. Cell Biol. 12:12-51
-
-
-
-
129
-
-
0036226156
-
Identification of an organelle receptor for myosin-Va
-
Wu X, Rao K, Zhang H, Wang F, Sellers J, et al. 2002. Identification of an organelle receptor for myosin-Va. Nat. Cell Biol. 4:271-78
-
(2002)
Nat. Cell Biol
, vol.4
, pp. 271-278
-
-
Wu, X.1
Rao, K.2
Zhang, H.3
Wang, F.4
Sellers, J.5
-
130
-
-
0034659852
-
Megakaryocyte dense granule components are sorted in multivesicular bodies
-
Youssefian T, Cramer EM. 2000. Megakaryocyte dense granule components are sorted in multivesicular bodies. Blood 95:4004-7
-
(2000)
Blood
, vol.95
, pp. 4004-4007
-
-
Youssefian, T.1
Cramer, E.M.2
-
131
-
-
20144363940
-
Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11
-
zur Stadt U, Schmidt S, Kasper B, Beutel K, Diler AS, et al. 2005. Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. Hum. Mol. Genet. 14:827-34
-
(2005)
Hum. Mol. Genet
, vol.14
, pp. 827-834
-
-
zur Stadt, U.1
Schmidt, S.2
Kasper, B.3
Beutel, K.4
Diler, A.S.5
|