When intracellular logistics fails - Genetics defects in membrane trafficking

Journal of Cell Science

Volumn 119, Issue 24, 2006, Pages 5031-5045

  Olkkonen, Vesa M ^a   Ikonen, Elina ^b  

^a NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

Author keywords

Disease; Disorder; Genetic; Membrane trafficking; Vesicle tansport

Indexed keywords

ARF PROTEIN; BETA ADAPTIN; CHYLOMICRON; COAT PROTEIN COMPLEX II; DYNAMIN II; ENDOPLASMIC RETICULUM GOLGI INTERMEDIATE COMPARTMENT PROTEIN 53; GUANOSINE TRIPHOSPHATASE; MEMBRANE LIPID; MEMBRANE PROTEIN; PROTEIN OCRL1; PROTEIN SAR1B; RAB PROTEIN; RAB27A PROTEIN; SNARE PROTEIN; TUBERIN; UNCLASSIFIED DRUG;

ACTIN FILAMENT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CELLULAR DISTRIBUTION; CHOROIDEREMIA; GENE DELETION; GENE MUTATION; GENETIC DISORDER; GRISCELLI SYNDROME; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INTRACELLULAR TRANSPORT; LOWE SYNDROME; LYSOSOME; LYSOSOME STORAGE DISEASE; MEMBRANE TRANSPORT; MICROTUBULE; MUCOLIPIDOSIS TYPE 2; NEUROPATHOLOGY; NONHUMAN; OCULAR ALBINISM; PATHOGENESIS; POINT MUTATION; PRIORITY JOURNAL; PROTEIN TRANSPORT; TRANSPORT VESICLE; TUBEROUS SCLEROSIS;

BIOLOGICAL TRANSPORT; HERMANSKI-PUDLAK SYNDROME; HUMANS; MEMBRANE PROTEINS; MODELS, BIOLOGICAL; MUTATION;

EID: 33846163431     PISSN: 00219533     EISSN: None     Source Type: Journal    
DOI: 10.1242/jcs.03303     Document Type: Article

References (187)

1. Anand, V., Barral, D. C., Zeng, Y., Brunsmann, E, Maguire, A. M., Seabra, M. C. and Bennett, J. (2003). Gene therapy for choroideremia: in vitro rescue mediated by recombinant adenovirus. Vision. Res. 43, 919-926,
2. Anikster, Y., Huizing, M., Anderson, P. D., Fitzpatrick, D. L., Klar, A., Gross-Kieselstein, E., Berkun, Y., Shazberg, G., Gahl, W. A. and Horvitz, H. (2002). Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A. Am. J. Hum. Genet. 71, 407-414.
3. Antonny, B. and Schekman, R. (2001). ER export: public transportation by the COPII coach. Curr. Opin. Cell Biol. 13, 438-443.
4. Attree, O., Olivos, I. M., Okabe, I., Bailey, L. C., Nelson, D. L., Lewis, R. A., McInnes, R. R. and Nussbaum, R. L. (1992). The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature 358, 239-242.
5. Baetz, K., Isaaz, S. and Griffiths, G. M. (1995). Loss of cytotoxic T lymphocyte function in Chediak-Higashi syndrome arises from a secretory defect that prevents lytic granule exocytosis. J. Immunol. 154, 6122-6131.
6. Bahadoran, P., Aberdam, E., Mantoux, F., Busca, R., Bille, K., Yalman, N., de Saint-Basile, G., Casaroli-Marano, R., Ortonne, J. P. and Ballotti, R. (2001). Rab27a: A key to melanosome transport in human melanocytes. J. Cell Biol. 152, 843-850.
7. Barbosa, M. D., Nguyen, Q. A., Tchernev, V. T., Ashley, J. A., Defter, J. C., Blaydes, S. M., Brandt, S. J., Chotai, D., Hodgman, C., Solari, R. C. et al. (1996). Identification of the homologous beige and Chediak-Higashi syndrome genes. Nature 382, 262-265.
8. Bard, F. and Malhotra, V. (2006). The formation of TGN-to-plasma-membrane transport carriers. Annu. Rev. Cell. Dev. Biol. 22, 439-455.
9. Barlowe, C., Orci, L., Yeung, T., Hosobuchi, M., Hamamoto, S., Salama, N., Rexach, M. K, Ravazzola, M., Amherdt, M. and Schekman, R. (1994). COPII: a membrane coat formed by See proteins that drive vesicle budding from the endoplasmic reticulum. Cell 77, 895-907.
10. Barral, D. C., Ramalho, J. S., Anders, R., Hume, A. N., Knapton, H. J., Tolmachova, T., Collinson, L. M., Goulding, D., Authi, K. S. and Seabra, M. C. (2002). Functional redundancy of Rab27 proteins and the pathogenesis of Griscelli syndrome. J. Clin. Invest. 110, 247-257.
11. Barrowman, J., Sacher, M. and Ferro-Novick, S. (2000). TRAPP stably associates with the Golgi and is required for vesicle docking. EMBO. J. 19, 862-869.
12. Behnia, R. and Munro, S. (2005). Organelle identity and the signposts for membrane traffic. Nature 438, 597-604.
13. Bienvenu, T., des Portes, V., Saint Martin, A., McDonell, N., Billuart, P., Carrie, A., Vinet, M. C., Couvert, P., Toniolo, D., Ropers, H. H. et al. (1998). Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor. Hum. Mol. Genet. 7. 1311-1315.
14. Bitoun, M., Maugenre, S., Jeannet, P. Y., Lacene, E., Ferrer, X., Laforet, P., Martin, J. J., Laporte, J., Lochmuller, H., Beggs, A. H. et al. (2005). Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat. Genet. 37, 1207-1209.
15. Bizario, J. C., Feldmann, J., Castro, E. A., Menasche, G., Jacob, C. M., Cristofani, L., Casella, E. B., Voltarelli, J. C., de Saint-Basile, G. and Espreafico, E. M. (2004). Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene. J. Clin. Immunol. 24, 397-410.
16. Blair, M. A., Ma, S. and Hedera, P. (2006). Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia. Neurogenetics 7, 47-50.
17. Boissy, R. E., Zhao, Y. and Gahl, W. A. (1998). Altered protein localization in melanocytes from Hermansky-Pudlak syndrome: support for the role of the HPS gene product in intracellular trafficking. Lab. Invest. 78, 1037-1048.
18. Bonifacino, J. S. and Glick, B.S. (2004). The mechanisms of vesicle budding and fusion. Cell 116, 153-166.
19. Bonifacino, J. S. and Rojas, R. (2006). Retrograde transport from endosomes to the trans-Golgi network. Nat. Rev. Mol. Cell. Biol. 7. 568-579.
20. Boyadjiev, S. A., Fromme, J. C., Ben, J., Chong, S. S., Nauta, C., Hur, D. J., Zhang, G., Hamamoto, S., Schekman, R., Ravazzola, M. et al. (2006). Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking. Nat. Genet. 38, 1192-1197.
21. Brickner, J. H. and Fuller, R. S. (1997). SO11 encodes a novel, conserved protein that promotes TGN-endosomal cycling of Kex2p and other membrane proteins by modulating the function of two TGN localization signals. J. Cell Biol. 139, 23-36.
22. Bull, L. N., Mahmoodi, V., Baker, A. J., Jones, R., Strautnieks, S. S., Thompson, R. J. and Knisely, A. S. (2006). VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype. J. Pediatr. 148, 269-271.
23. Cantalupo, G., Alifano, P., Roberti, V., Bruni, C. B. and Bocci, C. (2001). Rab-interacting lysosomal protein (RILP): the Rab7 effector required for transport to lysosomes. EMBO J. 20, 683-693.
24. Cao, H., Weller, S., Orth, J. D., Chen, J., Huang, B., Chen, J. L., Stamnes, M. and McNiven, M. A. (2005). Actin and Arf1-dependent recruitment of a coriactin-dynamin complex to the Golgi regulates post-Golgi transport. Nat. Cell Biol. 7, 483-492.
25. Charych, E. I., Yu, W., Miralles, C. P., Serwanski, D. R., Li, X., Rubio, M. and De Blas, A. L. (2004). The brefeldin A-inhibited GDP/GTP exchange factor 2, a protein involved in vesicular trafficking, interacts with the beta subunits of the GABA receptors. J. Neurochem. 90, 173-189.
26. Choudhury, R., Diao, A., Zhang, F., Eisenberg, E., Saint-Pol, A., Williams, C., Konstantakopoulos, A., Lucocq, J., Johannes, L., Rabouille, C. et al. (2005). Lowe syndrome protein OCRL1 interacts with clathrin and regulates protein trafficking between endosomes and the trans-Golgi network. Mol. Biol. Cell 16, 3467-3479.
27. Clark, R. H., Stinchcombe, J. C., Day, A., Blott, E., Booth, S., Bossi, G., Hamblin, T., Davies, E. G. and Griffiths, G. M. (2003). Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse. Nat. Immunol. 4, 1111-1120.
28. Cremers, F. P., van de Pol, D. J., van Kerkhoff, L. P., Wieringa, B. and Ropers, H. H. (1990). Cloning of a gene that is rearranged in patients with choroideraemia, Nature 347, 674-677.
29. Cremers, F. P., Armstrong, S. A., Seabra, M. C., Brown, M. S. and Goldstein, J. L. (1994). REP-2, a Rab escort protein encoded by the choroideremia-like gene. J. Biol. Chem. 269, 2111-2117.
30. D'Adamo, P., Menegon, A., Lo Nigro, C., Grasso, M., Gulisano, M., Tamanini, F., Bienvenu, T., Gedeon, A. K., Oostra, B., Wu, S. K. et al. (1998). Mutations in GDI1 are responsible for X-linked non-specific mental retardation. Nat. Genet. 19, 134-139.
31. D'Adamo, P., Welzl, H., Papadimitriou, S., Raffaele di Barletta, M., Tiveron, C., Tatangelo, L., Pozzi, L., Chapman, P. R, Knevett, S. G., Ramsay, M. F. et al. (2002). Deletion of the mental retardation gene Gdi 1 impairs associative memory and alters social behavior in mice. Hum. Mol. Genet. 11. 2567-2580.
32. D'Souza-Schorey, C. and Chavrier, P. (2006). ARF proteins: roles in membrane traffic and beyond. Nat. Rev. Mol. Cell Biol. 7, 347-358.
33. Danino, D. and Hinshaw, J. E. (2001). Dynamin family of mechanoenzymes. Curr. Opin. Cell Biol. 13, 454-460.
34. del Pozo, M. A., Balasubramanian, N., Alderson, N. B., Mosses, W. B., Grande-Garcia, A., Anderson, R. G. and Schwartz, M. A. (2005). Phospho-caveolin-1 mediates integrin-regulated membrane domain internalization. Nat. Cell Biol. 7, 901-908.
35. Dell'Angelica, E. C., Shotelersuk, V., Aguilar, R. C., Gahl, W. A. and Bonifacino, J. S. (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.
36. Di Pietro, S. M. and Dell'Angelica, E. C. (2005). The cell biology of Hermansky-Pudlak syndrome: recent advances. Traffic 6, 525-533.
37. Dobson-Stone, C., Velayos-Baeza, A., Jansen, A., Andermann, F., Dubeau, F., Robert, F., Summers, A., Lang, A. E., Chouinard, S., Danek, A. et al. (2005). Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis. Neurogenetics 6, 151-158.
38. Downes, C. P., Gray, A. and Lucocq, J. M. (2005), Probing phosphoinositide functions in signaling and membrane trafficking. Trends Cell Biol. 15, 259-268.
39. Elhamdani, A., Azizi, E, Solomaha, E., Palfrey, H. C. and Artalejo, C. R. (2006). Two mechanistically distinct forms of endocytosis in adrenal chromaffin cells: Differential effects of SH3 domains and amphiphysin antagonism. FEBS Lett. 580, 3263-3269.
40. Eskelinen, E. L., Tanaka, Y. and Saftig, P. (2003). At the acidic edge: emerging functions for lysosomal membrane proteins. Trends Cell Biol. 13, 137-145.
41. Evans, K. J., Gomes, E. R., Reisenweber, S. M., Gundersen, G. G. and Lauring, B. P. (2005). Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing. J. Cell Biol. 168, 599-606.
42. Faigle, W., Raposo, G., Tenza, D., Pinet, V., Vogt, A. B., Kropshofer, H., Fischer, A., de Saint-Basile, G. and Amigorena, S. (1998). Deficient peptide loading and MHC class II endosomal sorting in a human genetic immunodeficiency disease: the Chediak-Higashi syndrome. J. Cell Biol. 141, 1121-1134.
43. Feldmann, J., Callebaut, I., Raposo, G., Certain, S., Bacq, D., Dumont, C., Lambert, N., Ouachee-Chardin, M., Chedeville, G., Tamary, H. et al. (2003). Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL,3). Cell 115, 461-473.
44. Fichera, M., Lo Giudice, M., Falco, M., Sturnio, M., Amata, S., Calabrese, O., Bigoni, S., Calzolari, E. and Neri, M. (2004). Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia. Neurology 63, 1108-1110.
45. Fischer, D., Herasse, M., Bitoun, M., Barragan-Campos, H. M., Chiras, J., Laforet, P., Fardeau, M., Eymard, B., Guicheney, P. and Romero, N. B. (2006). Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy. Brain 129, 1463-1469.
46. Fukuda, M., Kuroda, T. S. and Mikoshiba, K. (2002). Slac2-a/ melanophilin, the missing link between Rab27 and myosin Va: implications of a tripartite protein complex for melanosome transport. J. Biol. Chem. 277, 12432-12436.
47. Gautam, R., Novak, E. K., Tan, J., Wakamatsu, K., Ito, S. and Swank, R. T. (2006). Interaction of Hermansky-Pudlak Syndrome genes in the regulation of lysosome-related organelles. Traffic 7, 779-792.
48. Gauthier, L. R., Charrin, B. C., Borrell-Pages, M., Dompierre, J. P., Rangone, H., Cordelieres, F. P., De Mey, J., MacDonald, M. E., Lessmann, V., Humbert, S. et al. (2004). Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules. Cell 118, 127-138.
49. Gedeon, A. K., Colley, A., Jamieson, R., Thompson, E. M., Rogers, J., Sillence, D., Tiller, G. E., Malley, J. C. and Gecz, J. (1999). Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. Nat. Genet. 22, 400-404.
50. Gedeon, A. K., Tiller, G. E., Le Merrer, M., Heuertz, S., Tranebjaerg, L., Chitayat, D., Robertson, S., Glass, I. A., Savarirayan, R., Cole, W. G. et al. (2001). The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. Am. J. Hum. Genet. 68, 1386-1397.
51. Gerst, J. E. (2003). SNARE regulators: matchmakers and matchbreakers. Biochim. Biophys. Acta 1641, 99-110.
52. Giraudo, C. G., Eng, W. S., Melia, T. J. and Rothman, J. E. (2006). A Clamping Mechanism Involved in SNARE-Dependent Exocytosis. Science 676-680.
53. Gissen, P., Johnson, C. A., Morgan, N. V., Stapelbroek, J. M., Forshew, T.. Cooper, W. N., McKiernan, P. J., Klomp, L. W., Morris, A. A., Wraith, J. E. et al. (2004). Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome, Nat. Genet. 36. 400-404,
54. Gissen, P., Johnson, C. A., Gentle, D., Hurst, L. D., Doherty, A. J., O'Kane. C. J., Kelly, D. A. and Maher, E. R. (2005). Comparative evolutionary analysis of VPS33 homologues: genetic and functional insights. Hum. Mol. Genet. 14, 1261-1270.
55. Goishi, K., Mizuno, K., Nakanishi, H. and Sasaki, T. (2004). Involvement of Rab27 in antigen-induced histamine release from rat basophilic leukemia 2H3 cells. Biochem. Biophys. Res. Commun. 324, 294-301.
56. Gomez, T. S., Hamann, M. J., McCarney, S., Savoy, D. N., Lubking, C. M., Heldebrant, M. P., Labno, C. M., McKean, D. J., McNiven, M. A., Burkhardt, J. K. et al. (2005). Dynamin 2 regulates T cell activation by controlling actin polymerization at the immunological synapse. Nat. Immunol. 6, 261-270.
57. Grosshans, B. L., Ortiz, D. and Novick, P. (2006). Rabs and their effectors: achieving, specificity in membrane traffic. Proc. Natl. Acad. Sci. USA 103, 11821-11827.
58. Gunawardena, S., Her, L. S., Brusch, R. G., Laymon, R. A., Niesman, I. R., Gordesky-Gold, B., Sintasath, L., Bonini, N. M. and Goldstein, L. S. (2003), Disruption ofaxonal transport by loss of huntingtin or expression of pathogenic poly Q proteins in Drosophila. Neuron 40, 25-40.
59. Guzik, B. W. and Goldstein, L. S. (2004). Microtubule-dependent transport in neurons: steps towards an understanding of regulation, function and dysfunction. Curr. Opin. Cell Biol. 16, 441-450.
60. Hafezparast, M., Klocke, R., Ruhrberg, C., Marquardt, A.. Ahmad-Annuar, A., Bowen, S., Lalli, G., Witherden, A. S., Hummerich, H., Nicholson, S. et al. (2003). Mutations in dynein link motor neuron degeneration to defects in retrograde transport, Science 300, 808-812.
61. Halstead, J. R., Jalink, K. and Divecha, N. (2005). An emerging role for PtdIns(4.5)P2-mediated signalling in human disease. Trends Pharmacol. Sci. 26, 654-660.
62. Hamamoto, I., Nishimura, Y., Okamoto, T., Aizaki, H., Liu, M., Mori, Y., Abe, T., Suzuki, T., Lai, M. M., Miyamura, T. et al. (2005). Human VAP-B is involved in hepatitis C virus replication through interaction with NS5A and NS5B. J. Virol. 79, 13473-13482.
63. Harjes, P. and Wanker, E. E. (2003). The hunt for huntingtin function: interaction partners tell many different stories. Trends Biochem. Sci. 28, 425-433.
64. Hazan, J., Fonknechten, N., Mavel, D., Paternotte, C., Samson, D., Artiguenave, F., Davoine, C. S., Cruaud, C., Durr. A., Wincker, P. et al. (1999). Spastin. a new AAA protein is altered in the most frequent form of autosomal dominant spastic paraplegia, Nat. Genet. 23, 296-303.
65. Hirokawa, N. and Takemura, R. (2003). Biochemical and molecular characterization of diseases linked to motor proteins. Trends Biochem. Sci. 28, 558-565.
66. Hirokawa, N. and Takemura, R. (2005). Molecular motors and mechanisms of directional transport in neurons. Nat. Rev. Neurosci. 6, 201-214,
67. Houlden, H., King, R. H., Muddle, J. R., Warner, T. T., Reilly, M. M., Orrell, R. W. and Ginsberg, L. (2004). A novel RAB7 mutation associated with ulcero-mutilating neuropathy. Ann. Neurol. 56, 586-590.
68. Huizing, M., Sarangarajan, R., Strovel, E., Zhao, Y., Gahl, W. A. and Boissy, R. E. (2001). AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes. Mol. Biol. Cell 12. 2075-2085.
69. Huizing, M., Hess, R., Dorward, H., Claassen, D. A., Helip-Wooley, A., Kleta, R., Kaiser-Kupfer, M. I., White, J. G. and Gahl, W. A. (2004). Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. Traffic 5, 711-722.
70. Humbert, S., Bryson, E. A., Cordelieres, F. P., Connors, N. C., Datta, S. R., Finkbeiner, S., Greenberg, M. E. and Saudou, F. (2002). The IGF-1/ Akt pathway is neuroprotective in Huntington's disease and involves Huntingtin phosphorylation by Akt. Dev. Cell 2, 831-837.
71. Huynh, C., Roth, D., Ward, D. M., Kaplan, J. and Andrews, N. W. (2004). Defective lysosomal exocytosis and plasma membrane repair in Chediak-Higashi/beige cells. Proc. Natl. Acad. Sci. USA 101, 16795-16800.
72. Hyvola, N., Diao, A., McKenzie, E., Skippen, A., Cockcroft, S. and Lowe, M. (2006). Membrane targeting and activation of the Lowe syndrome protein OCRL1 by rab GTPases. EMBO J. 25, 3750-3761.
73. Jahn, R. and Scheller, R. H. (2006). SNAREs - engines for membrane fusion. Nat. Rev. Mol. Cell Biol. 7, 631-643.
74. Jones, B., Jones, E. L., Bonney, S. A., Patel, H. N., Mensenkamp, A. R., Eichenbaum-Voline, S., Rudling, M., Myrdal, U., Annesi, G., Naik, S. et al. (2003). Mutations in a Sarl GTPase of COPH vesicles are associated with lipid absorption disorders. Nat. Genet. 34, 29-31.
75. Jordens, I., Fernandez-Borja, M., Marsman, M., Dusseljee, S., Janssen. L., Calafat, J., Janssen, H., Wubbolts, R. and Neefles, J. (2001). The Rab7 effector protein RILP controls lysosomal transport by inducing the recruitment of dynein-dynactin motors. Curr Biol. 11. 1680-1685.
76. Kanekura, K., Nishimoto, I., Aiso, S. and Matsuoka, M. (2006). Characterization of amytrophic lateral sclerosis-linked pro56ser mutation of vesicle-associated membrane protein-associated protein B (VAPB/ALS8). J. Biol. Chem. 281, 30223-30233.
77. Kavalali, E. T. (2006). Synaptic vesicle reuse and its implications. Neuroscientist 12, 57-66.
78. Kessels, M. M., Dong, J., Leibig, W., Westermann, P. and Qualmann, B, (2006). Complexes of syndapin II with dynamin II promote vesicle formation at the trans-Golgi network. J Cell Sci. 119, 1504-1516.
79. Kieran, D., Hafezparast, M., Bohnert, S., Dick, J. R., Martin, J., Schiavo, G., Fisher, E. M. and Greensmith, L. (2005). A mutation in dynein rescues axonal transport detects and extends the life span of ALS mice. J. Cell Biol. 169, 561-567.
80. Kittler, J. T., Thomas, P., Tretter, V., Bogdanov, Y. D., Haucke, V., Smart, T. G. and Moss, S. J. (2004). Huntingtin-associated protein 1 regulates inhibitory synaptic transmission by modulating gamma-aminobutyric acid type A receptor membrane trafficking. Proc. Natl. Acad. Sci. USA 101, 12736-12741.
81. Kolehmainen, J., Black, G. C., Saarinen, A., Chandler, K., Clayton-Smith, J., Traskelin, A. L., Perveen, R., Kivitie-Kallio, S., Norio, R., Warburg, M. et al. (2003). Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. Am. J. Hum. Genet. 72, 1359-1369.
82. Kudo, M., Brem, M. S. and Canfield, W. M. (2006). Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha/beta-subunits precursor gene. Am. J. Hum. Genet. 78. 451-463.
83. Kumar, A., Kandt, R. S., Wolpert, C., Roses, A. D., Pericak-Vance, M. A. and Gilbert, J. R. (1995). Mutation analysis of the TSC2 gene in an African-American family. Hum. Mol. Genet. 4, 2295-2298.
84. LaMonte, B. H., Wallace, K. E., Holloway, B. A., Shelly, S. S., Ascano, J., Tokito, M., Van Winkle, T., Howland, D. S. and Holzbaur, E. L. (2002). Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration. Neuron 34, 715-727.
85. Lang, M. R., Lapierre, L. A., Frotscher, M., Goldenring, J. R. and Knapik, E. W. (2006). Secreory COPII coat component Sec23a is essential for cranofacial chondrocyte maturation. Nat. Genet. 38, 1198-1203.
86. Larocca, J. N. and Rodriguez-Gabin, A. G. (2002). Myelin biogenesis: vesicle transport in oligodendrocytes. Neurochem. Res. 27, 1313-1329.
87. Levy, J. R., Sumner, C. J., Caviston, J. P., Tokito, M. K., Ranganathan, S., Ligon, L. A., Wallace, K. E., LaMonte, B. H., Harmison, G. G., Puls, I., et al. (2006). A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation. J. Cell Biol. 172, 733-745.
88. Libby, R. T., Lillo, C., Kitamoto, J., Williams, D. S. and Steel, K. P. (2004). Myosin Va is required for normal photoreceptor synaptic activity. J. Cell Sci. 117, 4509-4515.
89. Lindvall, O. and Kokaia, Z. (2006). Stem cells for the treatment of neurological disorders. Natute 441, 1094-1096.
90. Lo, B., Li, L., Gissen, P., Christensen, H., McKiernan, P. J., Ye, C., Abdelhaleem, M., Hayes, J. A., Williams, M. D., Chitayat, D. and Kahr, W. H. (2005). Requirement of VPS33B, a member of the Secl/Mamc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis. Blood 106, 4159-4166.
91. Lo Giudice, M., Neri, M., Falco, M., Sturnio, M., Calzolari, E., Di Benedetto, D. and Fichera, M. (2006). A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia. Arch. Neurol. 63, 284-287.
92. Lowe, M. (2005). Structure and function of the Lowe syndrome protein OCRL1. Traffic 6, 711-719,
93. Lu. J., Tiao, G., Folkerth, R., Hecht, J., Walsh, C. and Sheen, V. (2006). Overlapping expression of ARFGEF2 and Filamin A in the neuroependymal lining of the lateral ventricles: insights into the cause of periventricular hererotopia. J. Comp. Neurol. 494, 476-484.
94. Maxfield, F. R. and McGraw, T. E. (2004). Endocytic recycling. Nat. Rev. Mol. Cell Biol. 5, 121-132.
95. McNiven, M. A. and Thompson, H. M. (2006). Vesicle formation at the plasma membrane and trans-Golgi network: the same but different. Science 313, 1591-1594.
96. McVey Ward, D., Shiflett, S. L. and Kaplan, J. (2002). Chediak-Higashi syndrome: a clinical and molecular view of a rare lysosomal storage disorder. Curr. Mol. Med. 2, 469-477.
97. McVey Ward, D., Shiflett, S. L., Huynh, D., Vaughn, M. B., Prestwich, G. and Kaplan, J. (2003). Use of expression constructs to dissect the functional domains of the CHS/beige protein: identification of multiple phenotypes. Traffic 4, 403-415.
98. Menasche, G., Pastural, E., Feldmann, J., Certain, S., Ersoy, F., Dupuis, S., Wulffraat, N., Bianchi, D., Fischer, A., Le Deist, F. et al. (2000). Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat. Genet. 25, 173-176.
99. Menasche, G., Ho, C. H., Sanal, O., Feldmann, J., Tezcan, I., Ersoy, F., Houdusse, A., Fischer, A. and de Saint Basile, G. (2003). Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MY05A F-exon deletion (GSI). J. Clin, Invest. 112, 450-456.
100. Merry, D. E., Janne, P. A., Landers, J. E., Lewis, R. A. and Nussbaum, R. L. (1992). Isolation of a candidate gene for choroideremia. Proc. Natl. Acad. Sci. USA 89, 2135-2139.
101. Mouratou, B., Biou, V., Joubert, A., Cohen, J., Shields, D. J., Geldner, N., Jurgens, G., Melancon, P. and Cherfils, J. (2005). The domain architecture of large guanine nucleotide exchange factors for the small GTP-binding protein Arf. BMC Genomics 6, 20.
102. Munch, C., Sedlmeier, R., Meyer, T., Homberg, V., Sperfeld, A. D., Kurt, A., Prudlo, J., Peraus, G., Hanemann, C. O., Stumm, G. et al. (2004). Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS. Neurology 63, 724-726.
103. Munch, C., Rosenbohm, A., Sperfeld, A. D., Uttner, I., Reske, S., Krause, B. J., Sedlmeier, R., Meyer, T., Hanemann, C. O., Stumm, G. et al. (2005). Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD. Ann. Neurol. 58, 777-780.
104. Nagle, D. L., Karim, M. A., Woolf, E. A., Holmgren, L., Bork, P., Misumi, D. J., McGrail, S. H., Dussault, B. J., Jr, Peron, C. M., Boissy, R. E. et al. (1996). Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nat. Genet. 14, 307-311.
105. Nazarian, R., Falcon-Perez, J. M. and Dell'Angelica, E. C. (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, 9770-8775.
106. Neeft, M., Wieffer, M., de Jong, A. S., Negroiu, G., Metz, C. H., van Loon, A., Griffith, J., Krijgsveld, J., Wulffraat, N., Koch, H. et al. (2005). Munc13-4 is an effector of rab27a and controls secretion of lysosomes in hematopoietic cells. Mol. Biol. Cell 16, 731-741.
107. Nichols, W. C., Seligsohn, U., Zivelin, A., Terry, V. H., Hertel, C. E., Wheatley, M. A., Moussalli, M. J., Hauri, H. P., Ciavarella, N., Kaufman, R. J. et al. (1998). Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII. Cell 93, 61-70.
108. Niemann, A., Berger, P. and Suter, U. (2006). Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease. Neuromolecular Med. 8, 217-242.
109. Nishimura, A. L., Mitne-Neto, M., Silva, H. C., Richieri-Costa, A., Middleton, S., Cascio, D., Kok, F., Oliveira, J. R., Gillingwater, T., Webb, J. et al. (2004). A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am. J. Hum. Genet. 75, 822-831.
110. Nishimura, Y., Hayashi, M., Inada, H. and Tanaka, T. (1999). Molecular cloning and characterization of mammalian homologues of vesicle-associated membrane protein-associated (VAMP-associated) proteins. Biochem. Biophys. Res. Commun. 254, 21-26.
111. Nishino, I., Fu, J., Tanji, K., Yamada, T., Shimojo, S., Koori, T., Mora, M., Riggs, J. E., Oh, S. J., Koga, Y. et al. (2000). Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature 406, 906-910.
112. Ohno, H. (2006). Clathrin-associated adaptor protein complexes. J. Cell Sci. 119, 3719-3721.
113. Olkkonen, V. M. and Ikonen, E. (2000). Genetic defects of intracellular-membrane transport. N. Engl. J. Med. 343, 1095-1104.
114. Pan, P. Y., Cai, Q., Lin, L., Lu, P. H., Duan, S. and Sheng, Z. H. (2005). SNAP-29-mediated modulation of synaptic transmission in cultured hippocampal neurons. J. Biol. Chem. 280, 25769-25779.
115. Pastural, E., Barrat, F. J., Dufourcq-Lagelouse, R., Certain, S., Sanal, O., Jabado, N., Seger, R., Griscelli, C., Fischer, A. and de Saint Basile, G. (1997). Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene. Mol. Genet. 16, 289-292.
116. Peden, A. A., Oorschot, V., Hesser, B. A., Austin, C. D., Scheller, R. H. and Klumperman, J. (2004). Localization of the AP-3 adaptor complex defines a novel endosomal exit site for lysosomal membrane proteins. J. Cell Biol. 164, 1065-1076.
117. Perou, C. M., Leslie, J. D., Green, W., Li, L., Ward, D. M. and Kaplan, J. (1997). The Beige/Chediak-Higashi syndrome gene encodes a widely expressed cytosolic protein. J. Biol. Chem. 272, 29790-29794.
118. Peterson, M. R. and Emr, S. D. (2001). The class C Vps complex functions at multiple Stages of the vacuolar transport pathway. Traffic 2, 476-486.
119. Pfeffer, S. and Aivazian, D. (2004). Targeting Rab GTPases to distinct membrane compartments. Nat. Rev. Mol. Cell Biol. 5, 886-896.
120. Press, B., Feng, Y., Hoflack, B. and Wandinger-Ness, A. (1998). Mutant Rab7 causes the accumulation ofcathepsm D and cation-independent mannose 6-phosphate receptor in an early endocytic compartment. J. Cell Biol. 140, 1075-1089.
121. Puls, I., Jonnakuty, C., LaMonte, B. H., Holzbaur, E. L., Tokito, M., Mann, E., Floeter, M. K., Bidus, K., Drayna, D., Oh, S. J. et al. (2003). Mutant dynactin in motor neuron disease. Nat. Genet. 33, 455-456.
122. Qin, Z. H., Wang, Y., Sapp, E., Cuiffo, B., Wanker, E., Hayden, M. R., Kegel, K. B., Aronin, N. and DiFiglia, M. (2004). Huntingtin bodies sequester vesicle-associated proteins by a polyproline-dependent interaction. J. Neurosci. 24, 269-281.
123. Raas-Rothschild, A., Cormier-Daire, V., Ban, M., Genin, E., Salomon, R., Brewer, K., Zeigler, M., Mandel, H., Toth, S., Roe, B. et al. (2000). Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC). J. Clin. Invest. 105, 673-681.
124. Raas-Rothschild, A., Bargal, R., Goldman, O., Ben-Asher, E., Groener, J. E., Tomain, A., Stemmer, E., Ben-Neriah, Z., Flusser, H., Beemer, F. A. et al. (2004). Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III. J. Med. Genet. 41, e52.
125. Rak, A., Pylypenko, O., Niculae, A., Pyatkov, K., Goody, R. S. and Alexandrov, K. (2004). Structure of the Rab7:REP-1 complex: insights into the mechanism of Rab prenylation and choroideremia disease. Cell 117, 749-760.
126. Rampoldi, L., Dobson-Stone, C., Rubio, J. P., Danek, A., Chalmers, R. M., Wood, N. W., Verellen, C., Ferrer, X., Malandrini, A., Fabrizi, G. M. et al. (2001). A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat. Genet. 28, 119-120.
127. Reid, E., Kloos, M., Ashley-Koch, A., Hughes, L., Bevan, S., Svenson, I. K., Graham, F. L., Gaskell, P. C., Dearlove, A., Pericak-Vance, M. A. et al. (2002). A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am. J. Hum. Genet. 71, 1189-1194.
128. Reid, E., Connell, J., Edwards, T. L., Duley, S., Brown, S. E. and Sanderson, C. M. (2005). The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B. Hum. Mol. Genet. 14, 19-38.
129. Robinson, M. S. and Bonifacino, J. S. (2001). Adaptor-related proteins. Curr. Opin. Cell. Biol. 13, 444-453.
130. Rothman, J. E. (2002). Lasker Basic Medical Research Award. The machinery and principles of vesicle transport in the cell. Nat. Med, 8, 1059-1062.
131. Sacher, M., Jiang, Y., Barrowman, J., Scarpa, A., Burston, J., Zhang, L., Schieltz, D., Yates, J. R., 3rd, Abeliovich, H. and Ferro-Novick, S. (1998). TRAPP, a highly conserved novel complex on the cis-Golgi that mediates vesicle docking and fusion. EMBO J. 17, 2494-2503.
132. Sacher, M., Barrowman, J., Wang, W., Horecka, J., Zhang, Y., Pypaert, M. and Ferro-Novick, S. (2001). TRAPP I implicated in the specificity of tethering in ER-to-Golgi transport. Mol. Cell. 7, 433-442.
133. Salinas, S., Carazo-Salas, R. E., Proukakis, C., Cooper, J. M., Weston, A. E., Schiavo, G. and Warner, T. T. (2005). Human spastin has multiple microtubule-related functions. J. Neurochem. 95, 1411-1420.
134. Sands, M. S. and Davidson, B. L. (2006). Gene therapy for lysosomal storage diseases. Mol. Ther, 13, 839-849.
135. Sannerud, R., Saraste, J. and Good, B. (2003). Retrograde traffic in the biosynthetic-secretory route: pathways and machinery. Curr. Opin. Cell Biol. 15, 438-445.
136. Saxena, S., Bocci, C., Weis, J. and Kruttgen, A. (2005). The small GTPase Rab7 controls the endosomal trafficking and neuritogenic signaling of the nerve growth factor receptor TrkA. J. Neurosci. 25, 10930-10940.
137. Schafer, D. A., Weed, S. A., Binns, D., Karginov, A. V., Parsons, J. T. and Cooper, J. A. (2002). Dynamin2 and cortactin regulate actin assembly and filament organization. Curr. Biol. 12, 1852-1857.
138. Schroer, T. A. (2004). Dynactin. Annu. Rev. Cell Dev. Biol. 20, 759-779.
139. Seabra, M. C., Mules, E. H. and Hume, A. N. (2002). Rab GTPases, intracellular traffic and disease. Trends Mol. Med, 8, 23-30.
140. Seabra, M. C. and Wasmeier, C. (2004). Controlling the location and activation of Rab GTPases. Curr. Opin. Cell Biol. 16, 451-457.
141. Seabra, M. C., Brown, M. S., Slaughter, C. A., Sudhof, T. C. and Goldstein, J. L. (1992). Purification of component A of Rab geranylgeranyl transferase: possible identity with the choroideremia gene product. Cell 70, 1049-1057.
142. Seabra, M. C., Brown, M. S. and Goldstein, J. L. (1993). Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase. Science 259, 377-381.
143. Seabra, M. C., Ho, Y. K. and Anant, J. S. (1995). Deficient geranylgeranylation of Ram/Rab27 in choroideremia. J. Biol. Chem. 270, 24420-24427.
144. Sheen, V. L., Ganesh, V. S., Topcu, M., Sebire, G., Bodell, A., Hill, R. S., Grant, P. E., Shugart, Y. Y., Imitola, J., Khoury, S. J. 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.
145. Shirakawa, R., Higashi, T., Tabuchi, A., Yoshioka, A., Nishioka, H., Fukuda, M., Kita, T. and Horiuchi, H. (2004). Munc13-4 is a GTP-Rab27-binding protein regulating dense core granule secretion in platelets. J. Biol. Chem. 279, 10730-10737.
146. Shoulders, C. C., Stephens, D. J. and Jones, B. (2004). The intracellular transport of chylomicrons requires the small GTPase, Sar1b. Curr. Opin. Lipidol. 15, 191-197.
147. Siddiqi, S. A., Gorelick, F. S., Mahan, J. T. and Mansbach, C. M. 2nd. (2003). COPII proteins are required for Golgi fusion but not for endoplasmic reticulum budding of the pre-chylomicron transport vesicle. J. Cell Sci. 116, 415-427.
148. Siddiqi, S. A., Siddiqi, S., Mahan, J., Peggs, K., Gorelick, F. S. and Mansbach, C. M. (2006). The identification of a novel ER to Golgi SNARE complex used by the Prechylomicron transport vesicle. J. Biol. Chem. 281, 20974-20982.
149. Skehel, P. A., Fabian-Fine, R. and Kandel, E. R. (2000). Mouse VAP33 is associated with the endoplasmic reticulum and microtubules. Proc. Natl. Acad. Sci, USA 97, 1101-1106.
150. Smith, R., Brundin, P. and Li, J. Y. (2005). Synaptic dysfunction in Huntington's disease: a new perspective. Cell. Mol. Life Sci. 62, 1901-1912.
151. Sprecher, E., Ishida-Yamamoto, A., Mizrahi-Koren, M., Rapaport, D., Goldsher, D., Indelman, M., Topaz, O., Chefetz, I, Keren, H., O'Brien T, J. 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,
152. Spritz, R. A. (1998). Genetic defects in Chediak-Higashi syndrome and the beige mouse. J. Clin. Immunol. 18, 97-105.
153. Stinchcombe, J. C., Barral, D. C., Mules, E. H., Booth, S., Hume, A. N., Machesky, L. M., Seabra, M. C. and Griffiths, G. M. (2001). Rab27a is required for regulated secretion in cytotoxic T lymphocytes. J. Cell. Biol. 152, 825-834.
154. Strom, M., Hume, A. N., Tarafder, A. K., Barkagianni, E. and Seabra, M. C. (2002). A family of Rab27-binding proteins. Melanophilin links Rab27a and myosin Va function in melanosome transport. J. Biol. Chem. 277, 25423-25430.
155. Su, Q., Mochida, S., Tian, J. H., Mehta, R. and Sheng, Z. H. (2001). SNAP-29: a general SNARE protein that inhibits SNARE disassembly and is implicated in synaptic transmission. Proc. Natl. Acad. Sci, USA 98, 14038-14043.
156. Suchy, S. F., Olivos-Glander, I. M. and Nussabaum, R. L. (1995), Lowe syndrome. a deficiency of phosphatidylinositol 4.5-bisphosphate 5-phosphatase in the Golgi apparatus. Hum. Mol. Genet. 4, 2245-2250.
157. Südhof, T. C. (2004). The synaptic vesicle cycle. Annu. Rev. Neurosci., 27. 509-547.
158. Sugie, K., Noguchi, S., Kozuka, Y., Arikawa-Hirasawa, E., Tanaka, M., Yan, C., Saftig, P., von Figura, K., Hirano, M., Ueno, S. et al. (2005). Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies. J. Neuropathol. Exp. Neurol. 64, 513-522.
159. Swayne, L. A., Chen, L., Hameed, S., Barr, W., Charlesworth, E.. Colicos, M. A., Zamponi, G. W. and Braun, J. E. (2005). Crosstalk between hunting-lin and syntaxin 1 A regulates N-type calcium channels. Mol. Cell, Neurosci. 30, 339-351.
160. Thompson, H. M., Cao, H., Chen, J., Euteneuer, U. and McNiven, M. A. (2004). Dynamin 2 binds gamma-tubulin and participates in centrosome cohesion. Nat. Cell. Biol. 6, 335-342.
161. Tiede, S., Storch, S., Lubke, T., Henrissat, B., Bargal, R., Raas-Rothschild, A. and Braulke, T. (2005). Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Natl. Med. 11, 1109-1112.
162. Tiller, G. E., Hannig, V. L., Dozier, D., Carrel, L., Trevarthen, K. C., Wilcox, W. R., Mundlos, S., Haines, J. L., Gedeon, A. K. and Gecz, J. (2001). A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda. Am. J. Hum. Genet. 68, 1398-1407.
163. Trotta, N., Orso, G., Rossetto, M. G., Daga, A. and Broadie, K. (2004). The hereditary spastic paraplegia gene, spastin, regulates microtubule stability to modulate synaptic structure and function. Curr. Biol. 14, 1135-1147.
164. Ueno, S., Maruki, Y., Nakamura, M., Tomemori, Y., Kamae, K., Tanabe, H., Yamashita, Y., Matsuda, S., Kaneko, S. and Sano, A. (2001). The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. Nat. Genet. 28, 121-122.
165. Ungermann, C. and Langosch, D. (2005). Functions of SNAREs in intracellular membrane fusion and lipid bilayer mixing. J. Cell. Sci. 118, 3819-3828.
166. Ungewickell, A., Ward, M. E., Ungewickell, E. and Majerus, P. W. (2004). The inositol polyphosphate 5-phosphatase Ocrl associates with endosomes that are partially coated with clathrin. Proc. Natl. Acad. Sci. USA 101, 13501-13506.
167. Valdez, A. C., Cabaniols, J. P., Brown, M. J. and Roche, P. A. (1999). Syntaxin 11 is associated with SNAP-23 on late endosomes and the trans-Golgi network. J. Cell Sci. 112, 845-854.
168. Valera, A. G., Diaz-Hernandez, M., Hernandez, F., Ortega, Z. and Lucas, J. J, (2005). The ubiquitin-proteasome system in Huntington's disease. Neuroscientist 11. 583-594.
169. Wei, M. L. (2006). Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function. Pigment. Cell. Res. 19, 19-42.
170. Velayos-Baeza, A., Vettori, A., Copley, R. R., Dobson-Stone, C. and Monaco, A. P. (2004). Analysis of the human VPS13 gene family. Genomics 84, 536-549.
171. Verhoeven, K., De Jonghe, P., Coen, K., Verpoorten, N., Auer-Grumbach, M., Kwon, J. M., FitzPatrick, D., Schmedding, E., De Vriendt, E., Jacobs, A. et al. (2003). Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am. J. Hum. Genet. 72, 722-727.
172. Whyte, J. R. and Munro, S. (2002). Vesicle tethering complexes in membrane traffic. J. Cell. Sci. 115, 2627-2637.
173. Wienecke, R., Konig, A. and DeClue, J. E. (1995). Identification of tuberin, the tuberous sclerosis-2 product. Tuberin possesses specific Rap1GAP activity. J Biol. Chem. 270, 16409-16414.
174. Wu, X., Bowers, B., Rao, K., Wei, Q. and Hammer, J. A., 3rd. (1998). Visualization of melanosome dynamics within wild-type and dilute melanocytes suggests a paradigm for myosin V function in vivo. J. Cell. Biol. 143, 1899-1918.
175. Wu, X., Wang, F., Rao, K., Sellers, J. R. and Hammer, J. A., 3rd. (2002). Rab27a is an essential component of melanosome receptor for myosin Va. Mol. Biol. Cell. 13, 1735-1749.
176. Xiao, G. H., Shoarinejad, F., Jin, F., Golemis, E. A. and Yeung, R. S. (1997). The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis. J. Biol. Chem. 272, 6097-6100.
177. Xu, K. F., Shen, X., Li, H., Pacheco-Rodriguez, G., Moss, J. and Vaughan, M. (2005). Interaction of BIG2, a brefeldin A-inhibited guanine nucleotide-exchange protein, with exocyst protein Exo70. Proc. Natl. Acad. Sci. USA 102, 2794-2789.
178. Zerial, M. and McBride, H. (2001). Rab proteins as membrane organizers. Nat. Rev. Mol. Cell Biol. 2, 107-117.
179. Zhang, B., Cunningham, M. A., Nichols, W. C., Bernat, J. A., Seligsohn, U., Pipe, S. W., McVey, J. H., Schulte-Overberg, U., de Bosch, N. B., Ruiz-Saez, A. et al. (2003). Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex. Nat. Genet, 34, 220-225.
180. Zhang, B., Kaufman, R. J. and Ginsburg, D. (2005). LMAN1 and MCFD2 form a cargo receptor complex and interact with coagulation factor VIII in the early secretory pathway J. Biol. Chem. 280, 25881-25886.
181. Zhang, B., McGee, B., Yamaoka, J. S., Guglielmone, H., Downes, K. A., Minoldo, S., Jarchum, G., Peyvandi, F., de Bosch, N. B., Ruiz-Saez, A. et al. (2006). Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2. Blood 107, 1903-1907.
182. Zhang, X., Jefferson, A. B., Auethavekiat, V. and Majerus, P. W. (1995). The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase. Proc. Natl. Acad. Sci. USA 92, 4853-4856.
183. Zhao, C., Takita, J., Tanaka, Y., Setou, M., Nakagawa, T., Takeda, S., Yang, H. W., Terada, S., Nakata, T., Takei, Y. et al. (2001). Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. Cell 105, 587-597.
184. Zuccato, C., Ciammola, A., Rigamonti, D., Leavitt, B. R., Goffredo, D., Conti, L., MacDonald, M. E., Friedlander, R. M., Silani, V., Hayden, M. R. et al. (2001). Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease. Science 293, 493-498.
185. Zuccato, C., Tartari, M., Crotti, A., Goffredo, D., Valenza, M., Conti, L., Cataudella, T., Leavitt, B. R., Hayden, M. R., Timmusk, T. et al. (2003), Huntingtin interacts with REST/NRSF to modulate the transcription of NRSE-controlled neuronal genes. Nat. Genet. 35, 76-83.
186. Zuchner, S., Noureddine, M., Kennerson, M., Verhoeven, K., Claeys, K., De Jonghe, P., Merory, J., Oliveira, S. A., Speer, M. C., Stenger, J. E. et al. (2005). Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat. Genet. 37, 289-294,
187. zur Stadt, U., Schmidt, S., Kasper, B., Beutel, K., Diler, A. S., Henter, J. L, Kabisch, H., Schneppenheim, R., Nurnberg, P., Janka, G. 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, 827-834.