-
1
-
-
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, 376-380
-
(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
-
2
-
-
0030886261
-
The AP-3 adaptor complex is essential for cargo-selective transport to the yeast vacuole
-
Cowles CR, Odorizzi G, Payne GS, Emr SD (1997) The AP-3 adaptor complex is essential for cargo-selective transport to the yeast vacuole. Cell 91, 109-118
-
(1997)
Cell
, vol.91
, pp. 109-118
-
-
Cowles, C.R.1
Odorizzi, G.2
Payne, G.S.3
Emr, S.D.4
-
3
-
-
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, Gahl WA, Bonifacino JS (1999) Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A 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
-
4
-
-
0032587547
-
The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness
-
Feng L, Seymour AB, Jiang S, To A, Peden AA et al. (1999) The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness. Hum Mol Genet 8, 323-330
-
(1999)
Hum Mol Genet
, vol.8
, pp. 323-330
-
-
Feng, L.1
Seymour, A.B.2
Jiang, S.3
To, A.4
Peden, A.A.5
-
5
-
-
0034911704
-
Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: Disorders of vesicle formation and trafficking
-
Huizing M, Anikster Y, Gahl WA (2001) Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking. Thromb Haemostasis 86, 233-245
-
(2001)
Thromb Haemostasis
, vol.86
, pp. 233-245
-
-
Huizing, M.1
Anikster, Y.2
Gahl, W.A.3
-
6
-
-
0032126699
-
Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles
-
Kantheti P, Qiao X, Diaz ME, Peden AA, Meyer GE et al. (1998) Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles. Neuron 21, 111-122
-
(1998)
Neuron
, vol.21
, pp. 111-122
-
-
Kantheti, P.1
Qiao, X.2
Diaz, M.E.3
Peden, A.A.4
Meyer, G.E.5
-
7
-
-
0024254164
-
The intracisternal A-particle gene family: Structure and functional aspects
-
Kuff EL, Lueders KK (1988) The intracisternal A-particle gene family: structure and functional aspects. Adv Cancer Res 51, 183-276
-
(1988)
Adv Cancer Res
, vol.51
, pp. 183-276
-
-
Kuff, E.L.1
Lueders, K.K.2
-
8
-
-
0016356298
-
Mocha, a new coat color and behavior mutation on chromosome 10 of the mouse
-
Lane PW, Deol MS (1974) Mocha, a new coat color and behavior mutation on chromosome 10 of the mouse. J Hered 65, 362-364
-
(1974)
J Hered
, vol.65
, pp. 362-364
-
-
Lane, P.W.1
Deol, M.S.2
-
9
-
-
0033500874
-
A genetic and molecular characterization of the garnet gene of Drosophila melanogaster
-
Lloyd VK, Sinclair DA, Wennberg R, Warner TS, Honda BM et al. (1999) A genetic and molecular characterization of the garnet gene of Drosophila melanogaster. Genome 42, 1183-1193
-
(1999)
Genome
, vol.42
, pp. 1183-1193
-
-
Lloyd, V.K.1
Sinclair, D.A.2
Wennberg, R.3
Warner, T.S.4
Honda, B.M.5
-
10
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16, 1215
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
11
-
-
0033799538
-
Distinct requirements for the AP-3 adaptor complex in pigment granule and synaptic vesicle biogenesis in Drosophila melanogaster
-
Mullins C, Hartnell LM, Bonifacino JS (2000) Distinct requirements for the AP-3 adaptor complex in pigment granule and synaptic vesicle biogenesis in Drosophila melanogaster. Mol Gen Genet 263, 1003-1014
-
(2000)
Mol Gen Genet
, vol.263
, pp. 1003-1014
-
-
Mullins, C.1
Hartnell, L.M.2
Bonifacino, J.S.3
-
12
-
-
0021685459
-
Isolating single genes of the inherited epilepsies
-
Noebels JL (1984) Isolating single genes of the inherited epilepsies. Ann Neurol 16, S18-21
-
(1984)
Ann Neurol
, vol.16
-
-
Noebels, J.L.1
-
13
-
-
0024729509
-
Persistent hypersynchronization of neocortical neurons in the mocha mutant of mouse
-
Noebels JL, Sidman RL (1989) Persistent hypersynchronization of neocortical neurons in the mocha mutant of mouse. J Neurogenet 6, 53-56
-
(1989)
J Neurogenet
, vol.6
, pp. 53-56
-
-
Noebels, J.L.1
Sidman, R.L.2
-
14
-
-
0018474252
-
Lysosomal dysfunctions associated with mutations at mouse pigment genes
-
Novak EK, Swank RT (1979) Lysosomal dysfunctions associated with mutations at mouse pigment genes. Genetics 92, 189-204
-
(1979)
Genetics
, vol.92
, pp. 189-204
-
-
Novak, E.K.1
Swank, R.T.2
-
15
-
-
0021321231
-
Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci
-
Novak EK, Hui SW, Swank RT (1984) Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci. Blood 63, 536-544
-
(1984)
Blood
, vol.63
, pp. 536-544
-
-
Novak, E.K.1
Hui, S.W.2
Swank, R.T.3
-
17
-
-
0030747460
-
Altered expression of a novel adaptin leads to defective pigment granule biogenesis in the Drosophila eye color mutant garnet
-
Ooi CE, Moreira JE, Dell'Angelica EC, Poy G, Wassarman DA et al. (1997) Altered expression of a novel adaptin leads to defective pigment granule biogenesis in the Drosophila eye color mutant garnet. EMBO J 16, 4508-4518
-
(1997)
EMBO J
, vol.16
, pp. 4508-4518
-
-
Ooi, C.E.1
Moreira, J.E.2
Dell'Angelica, E.C.3
Poy, G.4
Wassarman, D.A.5
-
18
-
-
0034663990
-
The structure and function of the beta 2-adaptin appendage domain
-
Owen DJ, Vallis Y, Pearse BM, McMahon HT, Evans PR (2000) The structure and function of the beta 2-adaptin appendage domain. EMBO J 19, 4216-4227
-
(2000)
EMBO J
, vol.19
, pp. 4216-4227
-
-
Owen, D.J.1
Vallis, Y.2
Pearse, B.M.3
McMahon, H.T.4
Evans, P.R.5
-
19
-
-
0029906949
-
ZnT-3, a putative transporter of zinc into synaptic vesicles
-
Palmiter RD, Cole TB, Quaife CJ, Findley SD (1996) ZnT-3, a putative transporter of zinc into synaptic vesicles. Proc Natl Acad Sci USA 93, 14934-14939
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 14934-14939
-
-
Palmiter, R.D.1
Cole, T.B.2
Quaife, C.J.3
Findley, S.D.4
-
20
-
-
0037148533
-
Assembly and function of AP-3 complexes in cells expressing mutant subunits
-
Peden AA, Rudge RE, Lui WW, Robinson MS (2002) Assembly and function of AP-3 complexes in cells expressing mutant subunits. J Cell Biol 156, 327-336
-
(2002)
J Cell Biol
, vol.156
, pp. 327-336
-
-
Peden, A.A.1
Rudge, R.E.2
Lui, W.W.3
Robinson, M.S.4
-
21
-
-
0023236341
-
Immature dense granules in platelets from mice with platelet storage pool disease
-
Reddington M, Novak EK, Hurley E, Medda C, McGarry MP et al. (1987) Immature dense granules in platelets from mice with platelet storage pool disease. Blood 69, 1300-1306
-
(1987)
Blood
, vol.69
, pp. 1300-1306
-
-
Reddington, M.1
Novak, E.K.2
Hurley, E.3
Medda, C.4
McGarry, M.P.5
-
23
-
-
0021433332
-
Trace metals and otolith defects in mocha mice
-
Rolfsen RM, Erway LC (1984) Trace metals and otolith defects in mocha mice. J Hered 75, 159-162
-
(1984)
J Hered
, vol.75
, pp. 159-162
-
-
Rolfsen, R.M.1
Erway, L.C.2
-
24
-
-
0034177476
-
A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation
-
Shotelersuk V, Dell'Angelica EC, Hartnell L, Bonifacino JS, Gahl WA (2000) A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation. Am J Med 108, 423-427
-
(2000)
Am J Med
, vol.108
, pp. 423-427
-
-
Shotelersuk, V.1
Dell'Angelica, E.C.2
Hartnell, L.3
Bonifacino, J.S.4
Gahl, W.A.5
-
25
-
-
0030926547
-
Characterization of the adaptor-related protein complex, AP-3
-
Simpson F, Peden AA, Christopoulou L, Robinson MS (1997) Characterization of the adaptor-related protein complex, AP-3. J Cell Biol 137, 835-845
-
(1997)
J Cell Biol
, vol.137
, pp. 835-845
-
-
Simpson, F.1
Peden, A.A.2
Christopoulou, L.3
Robinson, M.S.4
-
26
-
-
0034760556
-
The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homolog of the human Hermansky-Pudlak syndrome-3 gene
-
Suzuki T, Li W, Zhang Q, Novak EK, Sviderskaya EV et al. (2001) The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homolog of the human Hermansky-Pudlak syndrome-3 gene. Genomics 78, 30-37
-
(2001)
Genomics
, vol.78
, pp. 30-37
-
-
Suzuki, T.1
Li, W.2
Zhang, Q.3
Novak, E.K.4
Sviderskaya, E.V.5
-
27
-
-
0025993470
-
Platelet storage pool deficiency associated with inherited abnormalities of the inner ear in the mouse pigment mutants muted and mocha
-
Swank RT, Reddington M, Howlett O, Novak EK (1991) Platelet storage pool deficiency associated with inherited abnormalities of the inner ear in the mouse pigment mutants muted and mocha. Blood 78, 2036-2044
-
(1991)
Blood
, vol.78
, pp. 2036-2044
-
-
Swank, R.T.1
Reddington, M.2
Howlett, O.3
Novak, E.K.4
-
28
-
-
0034566189
-
Abnormal vesicular trafficking in mouse models of Hermansky-Pudlak syndrome
-
Swank RT, Novak EK, McGarry MP, Zhang Y, Li W et al. (2000) Abnormal vesicular trafficking in mouse models of Hermansky-Pudlak syndrome. Pigment Cell Res 13, 59-67
-
(2000)
Pigment Cell Res
, vol.13
, pp. 59-67
-
-
Swank, R.T.1
Novak, E.K.2
McGarry, M.P.3
Zhang, Y.4
Li, W.5
-
29
-
-
0034471359
-
Defective organellar membrane protein trafficking in Ap3bl-deficient cells
-
Yang W, Li C, Ward DM, Kaplan J, Mansour SL (2000) Defective organellar membrane protein trafficking in Ap3bl-deficient cells. J Cell Sci 113, 4077-4086
-
(2000)
J Cell Sci
, vol.113
, pp. 4077-4086
-
-
Yang, W.1
Li, C.2
Ward, D.M.3
Kaplan, J.4
Mansour, S.L.5
|