{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T04:54:27Z","timestamp":1791348867313,"version":"4.3.1"},"reference-count":40,"publisher":"Springer Science and Business Media LLC","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Pediatr"],"published-print":{"date-parts":[[2008,7]]},"DOI":"10.1007\/s00431-008-0740-z","type":"journal-article","created":{"date-parts":[[2008,5,7]],"date-time":"2008-05-07T08:52:09Z","timestamp":1210150329000},"page":"723-729","source":"Crossref","is-referenced-by-count":92,"title":["Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders"],"prefix":"10.1007","volume":"167","author":[{"given":"Lucien","family":"Corbeel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen","family":"Freson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2008,5,8]]},"reference":[{"key":"740_CR1","doi-asserted-by":"crossref","first-page":"977","DOI":"10.1038\/sj.emboj.7601008","volume":"25","author":"A Abderrahmani","year":"2006","unstructured":"Abderrahmani A, Cheviet S, Ferdaoussi M, Coppola T, Waeber G, Regazzi R (2006) ICER induced by hyperglycemia represses the expression of genes essential for insulin exocytosis. EMBO J 25:977\u2013986","journal-title":"EMBO J"},{"key":"740_CR2","first-page":"227","volume":"115","author":"T Aizawa","year":"2005","unstructured":"Aizawa T, Komatsu M (2005) Rab27a: a new face in beta cell metabolism-secretion coupling. J Clin Invest 115:227\u2013230","journal-title":"J Clin Invest"},{"key":"740_CR3","doi-asserted-by":"crossref","first-page":"5262\u22125273","DOI":"10.1002\/j.1460-2075.1994.tb06860.x","volume":"13","author":"K Alexandrov","year":"1994","unstructured":"Alexandrov K, Horiuchi H, Steele-Mortimer O, Seabra MC, Zerial M (1994) Rab escort protein-1 is a multifunctional protein that accompanies newly prenylated Rab proteins to their target membranes. EMBO J 13:5262\u22125273","journal-title":"EMBO J"},{"key":"740_CR4","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1038\/ng1517","volume":"37","author":"IA Aligianis","year":"2005","unstructured":"Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K, Maina EN, Morgan NV, Tee L, Morton J, Ainsworth JR, Horn D, Rosser E, Cole TR, Stolte-Dijkstra I, Fieggen K, Clayton-Smith J, M\u00e9garban\u00e9 A, Shield JP, Newbury-Ecob R, Dobyns WB, Graham JM Jr, Kjaer KW, Warburg M, Bond J, Trembath RC, Harris LW, Takai Y, Mundlos S, Tannahill D, Woods CG, Maher ER (2005) Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat Genet 37:221\u2013223","journal-title":"Nat Genet"},{"key":"740_CR5","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1086\/502681","volume":"78","author":"IA Aligianis","year":"2006","unstructured":"Aligianis IA, Morgan NV, Mione M, Johnson CA, Rosser E, Hennekam RC, Adams G, Trembath RC, Pilz DT, Stoodley N, Moore AT, Wilson S, Maher ER (2006) Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome. Am J Hum Genet 78:702\u2013707","journal-title":"Am J Hum Genet"},{"key":"740_CR6","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1111\/j.1600-0854.2007.00683.x","volume":"9","author":"C Alvarez-Dominguez","year":"2008","unstructured":"Alvarez-Dominguez C, Madrazo-Toca F, Fernandez-Prieto L, Vandekerckhove J, Pareja E, Tobes R, Gomez-Lopez MT, Del Cerro-Vadillo E, Fresno M, Leyva-Cobi\u00e1n F, Carrasco-Mar\u00edn E (2008) Characterization of a Listeria monocytogenes protein Interfering with Rab5a. Traffic 9:325\u2013337","journal-title":"Traffic"},{"key":"740_CR7","doi-asserted-by":"crossref","first-page":"12559","DOI":"10.1021\/bi980881a","volume":"37","author":"JS Anant","year":"1998","unstructured":"Anant JS, Desnoyers L, Machius M, Demeler B, Hansen JC, Westover KD, Deisenhofer J, Seabra MC (1998) Mechanism of Rab geranylgeranylation: formation of the catalytic ternary complex. Biochemistry 37:12559\u201312568","journal-title":"Biochemistry"},{"key":"740_CR8","doi-asserted-by":"crossref","first-page":"8277","DOI":"10.1073\/pnas.122187699","volume":"99","author":"K Croizet-Berger","year":"2002","unstructured":"Croizet-Berger K, Daumerie C, Couvreur M, Courtoy PJ, van den Hove MF (2002) The endocytic catalysts, Rab5a and Rab7, are tandem regulators of thyroid hormone production. Proc Natl Acad Sci USA 99:8277\u20138282","journal-title":"Proc Natl Acad Sci USA"},{"key":"740_CR9","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1038\/487","volume":"19","author":"P D\u2019Adamo","year":"1998","unstructured":"D\u2019Adamo P, Menegon A, Lo Nigro C, Grasso M, Gulisano M, Tamanini F, Bienvenu T, Gedeon AK, Oostra B, Wu SK, Tandon A, Valtorta F, Balch WE, Chelly J, Toniolo D (1998) Mutations in GDI1 are responsible for X-linked non-specific mental retardation. Nat Genet 19:134\u2013139","journal-title":"Nat Genet"},{"key":"740_CR10","doi-asserted-by":"crossref","first-page":"1091","DOI":"10.1007\/s00431-007-0535-7","volume":"166","author":"E Denayer","year":"2007","unstructured":"Denayer E, Legius E (2007) What\u2019s new in neuro-cardio-facial-cutaneous syndromes? Eur J Pediatr 166:1091\u20131098","journal-title":"Eur J Pediatr"},{"key":"740_CR11","doi-asserted-by":"crossref","first-page":"15623","DOI":"10.1073\/pnas.95.26.15623","volume":"95","author":"SD Der","year":"1998","unstructured":"Der SD, Zhou A, Williams BR, Silverman RH (1998) Identification of genes differentially regulated by interferon alpha, beta, or gamma using oligonucleotide arrays. Proc Natl Acad Sci USA 95:15623\u2013156628","journal-title":"Proc Natl Acad Sci USA"},{"key":"740_CR12","doi-asserted-by":"crossref","first-page":"2377","DOI":"10.1172\/JCI1557","volume":"101","author":"WT Garvey","year":"1998","unstructured":"Garvey WT, Maianu L, Zhu JH, Brechtel-Hook G, Wallace P, Baron AD (1998) Evidence for defects in the trafficking and translocation of GLUT4 glucose transporters in skeletal muscle as a cause of human insulin resistance. J Clin Invest 101:2377\u20132386","journal-title":"J Clin Invest"},{"key":"740_CR13","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1146\/annurev.neuro.21.1.75","volume":"21","author":"M Geppert","year":"1998","unstructured":"Geppert M, S\u00fcdhof TC (1998) RAB3 and synaptotagmin: the yin and yang of synaptic membrane fusion. Annu Rev Neurosci 21:75\u201395","journal-title":"Annu Rev Neurosci"},{"key":"740_CR14","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1136\/jmg.2007.050294","volume":"44","author":"P Gissen","year":"2007","unstructured":"Gissen P, Maher ER (2007) Cargos and genes: insights into vesicular transport from inherited human disease. J Med Genet 44:545\u2013555","journal-title":"J Med Genet"},{"key":"740_CR15","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1083\/jcb.152.4.795","volume":"152","author":"AN Hume","year":"2001","unstructured":"Hume AN, Collinson LM, Rapak A, Gomes AQ, Hopkins CR, Seabra MC (2001) Rab27a regulates the peripheral distribution of melanosomes in melanocytes. J Cell Biol 152:795\u2013808","journal-title":"J Cell Biol"},{"key":"740_CR16","doi-asserted-by":"crossref","first-page":"4892","DOI":"10.1128\/MCB.23.14.4892-4900.2003","volume":"23","author":"T Imamura","year":"2003","unstructured":"Imamura T, Huang J, Usui I, Satoh H, Bever J, Olefsky JM (2003) Insulin-induced GLUT4 translocation involves protein kinase C-lambda-mediated functional coupling between Rab4 and the motor protein kinesin. Mol Cell Biol 23:4892\u20134900","journal-title":"Mol Cell Biol"},{"key":"740_CR17","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1007\/s00431-006-0258-1","volume":"166","author":"GE Janka","year":"2007","unstructured":"Janka GE (2007) Familial and acquired hemophagocytic lymphohistiocytosis. Eur J Pediatr 166:95\u2013109","journal-title":"Eur J Pediatr"},{"key":"740_CR18","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1038\/76024","volume":"25","author":"G M\u00e9nasch\u00e9","year":"2000","unstructured":"M\u00e9nasch\u00e9 G, Pastural E, Feldmann J, Certain S, Ersoy F, Dupuis S, Wulfraat N, Bianchi D, Fischer A, Le Deist F, de Saint Basile G (2000) Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat Genet 25:173\u2013176","journal-title":"Nat Genet"},{"key":"740_CR19","doi-asserted-by":"crossref","first-page":"E183","DOI":"10.1038\/15620","volume":"1","author":"S M\u00e9resse","year":"1999","unstructured":"M\u00e9resse S, Steele-Mortimer O, Moreno E, Desjardins M, Finlay B, Gorvel JP (1999) Controlling the maturation of pathogen-containing vacuoles: a matter of life and death. Nat Cell Biol 1:E183\u2013E188","journal-title":"Nat Cell Biol"},{"key":"740_CR20","doi-asserted-by":"crossref","first-page":"26832","DOI":"10.1074\/jbc.M702640200","volume":"282","author":"SM Ostrowski","year":"2007","unstructured":"Ostrowski SM, Wilkinson BL, Golde TE, Landreth G (2007) Statins reduce amyloid-beta production through inhibition of protein isoprenylation. J Biol Chem 282:26832\u201326844","journal-title":"J Biol Chem"},{"key":"740_CR21","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1097\/WCO.0b013e32826fbcb7","volume":"20","author":"Y Parman","year":"2007","unstructured":"Parman Y (2007) Hereditary neuropathies. Curr Opin Neurol 20:542\u2013547","journal-title":"Curr Opin Neurol"},{"key":"740_CR22","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1038\/ng0797-289","volume":"16","author":"E Pastural","year":"1997","unstructured":"Pastural E, Barrat FJ, Dufourcq-Lagelouse R, Certain S, Sanal O, Jabado N, Seger R, Griscelli C, Fischer A, De Saint-Basile G (1997) Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene. Nat Genet 16:289\u2013292","journal-title":"Nat Genet"},{"key":"740_CR23","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1083\/jcb.200605144","volume":"175","author":"JC Patel","year":"2006","unstructured":"Patel JC, Gal\u00e1n JE (2006) Differential activation and function of Rho GTPases during Salmonella-host cell interactions. J Cell Biol 175:453\u2013463","journal-title":"J Cell Biol"},{"key":"740_CR24","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1006\/jmbi.2000.4010","volume":"301","author":"JB Pereira-Leal","year":"2000","unstructured":"Pereira-Leal JB, Seabra MC (2000) The mammalian Rab family of small GTPases: definition of family and subfamily sequence motifs suggests a mechanism for functional specificity in the Ras superfamily. J Mol Biol 301:1077\u20131087","journal-title":"J Mol Biol"},{"key":"740_CR25","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/0962-8924(92)90161-F","volume":"2","author":"SR Pfeffer","year":"1992","unstructured":"Pfeffer SR (1992) GTP-binding proteins in intracellular transport. Trends Cell Biol 2:41\u201346","journal-title":"Trends Cell Biol"},{"key":"740_CR26","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1146\/annurev.biochem.76.061705.130002","volume":"76","author":"SR Pfeffer","year":"2007","unstructured":"Pfeffer SR (2007) Unsolved mysteries in membrane traffic. Annu Rev Biochem 76:629\u2013645","journal-title":"Annu Rev Biochem"},{"key":"740_CR27","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1111\/j.1600-0854.2005.00265.x","volume":"6","author":"A Prada-Delgado","year":"2005","unstructured":"Prada-Delgado A, Carrasco-Mar\u00edn E, Pe\u00f1a-Macarro C, Del Cerro-Vadillo E, Fresno-Escudero M, Leyva-Cobi\u00e1n F, Alvarez-Dominguez C (2005) Inhibition of Rab5a exchange activity is a key step for Listeria monocytogenes survival. Traffic 6:252\u2013265","journal-title":"Traffic"},{"key":"740_CR28","doi-asserted-by":"crossref","first-page":"F257","DOI":"10.1152\/ajprenal.00491.2005","volume":"291","author":"JH Robben","year":"2006","unstructured":"Robben JH, Knoers NV, Deen PM (2006) Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus. Am J Physiol Renal Physiol 291:F257\u2013F270","journal-title":"Am J Physiol Renal Physiol"},{"issue":"Suppl 2","key":"740_CR29","doi-asserted-by":"crossref","first-page":"S150","DOI":"10.1542\/peds.2006-2023H","volume":"119","author":"RG Russell","year":"2007","unstructured":"Russell RG (2007) Bisphosphonates: mode of action and pharmacology. Pediatrics 119[Suppl 2]:S150\u2013S162","journal-title":"Pediatrics"},{"key":"740_CR30","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1126\/science.8380507","volume":"259","author":"MC Seabra","year":"1993","unstructured":"Seabra MC, Brown MS, Goldstein JL (1993) Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase. Science 259:377\u2013381","journal-title":"Science"},{"key":"740_CR31","doi-asserted-by":"crossref","first-page":"24420","DOI":"10.1074\/jbc.270.41.24420","volume":"270","author":"MC Seabra","year":"1995","unstructured":"Seabra MC, Ho YK, Anant JS (1995) Deficient geranylgeranylation of Ram\/Rab27 in choroideremia. J Biol Chem 270:24420\u201324427","journal-title":"J Biol Chem"},{"key":"740_CR32","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1016\/S1471-4914(01)02227-4","volume":"8","author":"MC Seabra","year":"2002","unstructured":"Seabra MC, Mules EH, Hume AN (2002) Rab GTPases, intracellular traffic and disease. Trends Mol Med 8:23\u201330","journal-title":"Trends Mol Med"},{"key":"740_CR33","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1038\/sj.bmt.1703114","volume":"28","author":"F Schuster","year":"2001","unstructured":"Schuster F, Stachel DK, Schmid I, Baumeister FA, Graubner UB, Weiss M, Haas RJ, Belohradsky BH (2001) Griscelli syndrome: report of the first peripheral blood stem cell transplant and the role of mutations in the RAB27A gene as an indication for BMT. Bone Marrow Transplant 28:409\u2013412","journal-title":"Bone Marrow Transplant"},{"key":"740_CR34","doi-asserted-by":"crossref","first-page":"36354","DOI":"10.1074\/jbc.M705221200","volume":"282","author":"EH Sklan","year":"2007","unstructured":"Sklan EH, Serrano RL, Einav S, Pfeffer SR, Lambright DG, Glenn JS (2007) TBC1D20 is a Rab1 GTPase-activating protein that mediates hepatitis C virus replication. J Biol Chem 282:d36354\u201361","journal-title":"J Biol Chem"},{"key":"740_CR35","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1083\/jcb.152.4.825","volume":"152","author":"JC Stinchcombe","year":"2001","unstructured":"Stinchcombe JC, Barral DC, Mules EH, Booth S, Hume AN, Machesky LM, Seabra MC, Griffiths GM (2001) Rab27a is required for regulated secretion in cytotoxic T lymphocytes. J Cell Biol 152:825\u2013834","journal-title":"J Cell Biol"},{"key":"740_CR36","doi-asserted-by":"crossref","first-page":"25423","DOI":"10.1074\/jbc.M202574200","volume":"277","author":"M Strom","year":"2002","unstructured":"Strom M, Hume AN, Tarafder AK, Barkagianni E, Seabra MC, A family of Rab27-binding proteins (2002) Melanophilin links Rab27a and myosin Va function in melanosome transport. J Biol Chem 277:25423\u201325430","journal-title":"J Biol Chem"},{"key":"740_CR37","doi-asserted-by":"crossref","first-page":"18143","DOI":"10.1016\/S0021-9258(17)46822-0","volume":"268","author":"O Ullrich","year":"1993","unstructured":"Ullrich O, Stenmark H, Alexandrov K, Huber LA, Kaibuchi K, Sasaki T, Takai Y, Zerial M (1993) Rab GDP dissociation inhibitor as a general regulator for the membrane association of rab proteins. J Biol Chem 268:18143\u201318150","journal-title":"J Biol Chem"},{"key":"740_CR38","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1086\/367847","volume":"72","author":"K Verhoeven","year":"2003","unstructured":"Verhoeven K, De Jonghe P, Coen K, Verpoorten N, Auer-Grumbach M, Kwon JM, FitzPatrick D, Schmedding E, De Vriendt E, Jacobs A, Van Gerwen V, Wagner K, Hartung HP, Timmerman V (2003) Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am J Hum Genet 72:722\u2013727","journal-title":"Am J Hum Genet"},{"key":"740_CR39","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1097\/01.wco.0000245370.82317.f6","volume":"19","author":"K Verhoeven","year":"2006","unstructured":"Verhoeven K, Timmerman V, Mauko B, Pieber TR, De Jonghe P, Auer-Grumbach M (2006) Recent advances in hereditary sensory and autonomic neuropathies. Curr Opin Neurol 19:474\u2013480","journal-title":"Curr Opin Neurol"},{"key":"740_CR40","doi-asserted-by":"crossref","first-page":"C1129","DOI":"10.1152\/ajpcell.00628.2006","volume":"293","author":"A Vossenk\u00e4mper","year":"2007","unstructured":"Vossenk\u00e4mper A, Nedvetsky PI, Wiesner B, Furkert J, Rosenthal W, Klussmann E (2007) Microtubules are needed for the perinuclear positioning of aquaporin-2 after its endocytic retrieval in renal principal cells. Am J Physiol Cell Physiol 293:C1129\u2013C1138","journal-title":"Am J Physiol Cell Physiol"}],"container-title":["European Journal of Pediatrics"],"original-title":[],"language":"en","deposited":{"date-parts":[[2021,9,10]],"date-time":"2021-09-10T01:05:57Z","timestamp":1631235957000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00431-008-0740-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,5,8]]},"references-count":40,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2008,7]]}},"alternative-id":["740"],"URL":"https:\/\/doi.org\/10.1007\/s00431-008-0740-z","relation":{},"ISSN":["0340-6199","1432-1076"],"issn-type":[{"value":"0340-6199","type":"print"},{"value":"1432-1076","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,5,8]]}}}