Characterization of the Rab7K157N mutant protein associated with Charcot-Marie-Tooth type 2B

Biochemical and Biophysical Research Communications

Volumn 372, Issue 2, 2008, Pages 283-287

  De Luca, Azzurra ^a   Progida, Cinzia ^a   Spinosa, Maria Rita ^a   Alifano, Pietro ^a   Bucci, Cecilia ^a  

^a UNIVERSITY OF SALENTO   (Italy)

Author keywords

Axon degeneration; Axonal neuropathy; Charcot Marie Tooth; CMT2B; EGF degradation; Endocytosis; Neurodegeneration; Peripheral neuropathies; Rab proteins; Rab7

Indexed keywords

EPIDERMAL GROWTH FACTOR RECEPTOR; GUANOSINE TRIPHOSPHATASE; RAB7 PROTEIN;

ARTICLE; BINDING AFFINITY; DISSOCIATION; ENZYME ACTIVITY; GENE MUTATION; GENE SILENCING; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; HYDROLYSIS; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; PROTEIN FUNCTION;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AMINO ACID SEQUENCE; ASPARAGINE; CELL CYCLE PROTEINS; CHARCOT-MARIE-TOOTH DISEASE; CONSERVED SEQUENCE; GUANOSINE TRIPHOSPHATE; HUMANS; HYDROLYSIS; LYSINE; MUTATION, MISSENSE; NUCLEAR PROTEINS; RAB GTP-BINDING PROTEINS; RECEPTOR, EPIDERMAL GROWTH FACTOR; RNA INTERFERENCE;

EID: 44649154996     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2008.05.060     Document Type: Article

References (34)

1. Auer-Grumbach M., Mauko B., Auer-Grumbach P., and Pieber T.R. Molecular genetics of hereditary sensory neuropathies. Neuromolecular Med. 8 (2006) 147-158
2. Niemann A., Berger P., and Suter U. Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease. Neuromolecular Med. 8 (2006) 217-242
3. Schroder J.M. Neuropathology of Charcot-Marie-Tooth and related disorders. Neuromolecular Med. 8 (2006) 23-42
4. Zuchner S., and Vance J.M. Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies. Nat. Clin. Pract. Neurol. 2 (2006) 45-53
5. Parman Y. Hereditary neuropathies. Curr. Opin. Neurol. 20 (2007) 542-547
6. Reilly M.M. Sorting out the inherited neuropathies. Pract. Neurol. 7 (2007) 93-105
7. Meggouh F., Bienfait H.M., Weterman M.A., de Visser M., and Baas F. Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene. Neurology 67 (2006) 1476-1478
8. Houlden H., King R.H., Muddle J.R., Warner T.T., Reilly M.M., Orrell R.W., and Ginsberg L. A novel RAB7 mutation associated with ulcero-mutilating neuropathy. Ann. Neurol. 56 (2004) 586-590
9. Verhoeven K., De Jonghe P., Coen K., Verpoorten N., Auer-Grumbach M., Kwon J.M., FitzPatrick D., Schmedding E., De Vriendt E., Jacobs A., Van Gerwen V., Wagner K., Hartung H.P., and Timmerman V. Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am. J. Hum. Genet. 72 (2003) 722-727
10. Grosshans B.L., Ortiz D., and Novick P. Rabs and their effectors: achieving specificity in membrane traffic. Proc. Natl. Acad. Sci. USA 103 (2006) 11821-11827
11. Bucci C., Thomsen P., Nicoziani P., McCarthy J., and van Deurs B. Rab7: a key to lysosome biogenesis. Mol. Biol. Cell 11 (2000) 467-480
12. Harrison R.E., Bucci C., Vieira O.V., Schroer T.A., and Grinstein S. Phagosomes fuse with late endosomes and/or lysosomes by extension of membrane protrusions along microtubules: role of Rab7 and RILP. Mol. Cell. Biol. 23 (2003) 6494-6506
13. Jager S., Bucci C., Tanida I., Ueno T., Kominami E., Saftig P., and Eskelinen E.L. Role for Rab7 in maturation of late autophagic vacuoles. J. Cell Sci. 117 (2004) 4837-4848
14. Press B., Feng Y., Hoflack B., and Wandinger-Ness A. Mutant Rab7 causes the accumulation of cathepsin D and cation-independent mannose 6-phosphate receptor in an early endocytic compartment. J. Cell Biol. 140 (1998) 1075-1089
15. Snider M.D. A role for rab7 GTPase in growth factor-regulated cell nutrition and apoptosis. Mol. Cell 12 (2003) 796-797
16. Gutierrez M., Munafó D., Berón W., and Colombo M. Rab7 is required for the normal progression of the autophagic pathway in mammalian cells. J. Cell Sci. 117 (2004) 2687-2697
17. Saxena S., Bucci C., Weis J., and Kruttgen A. The small GTPase Rab7 controls the endosomal trafficking and neuritogenic signaling of the nerve growth factor receptor TrkA. J. Neurosci. 25 (2005) 10930-10940
18. Deinhardt K., Salinas S., Verastegui C., Watson R., Worth D., Hanrahan S., Bucci C., and Schiavo G.P. Rab5 and Rab7 control endocytic sorting along the axonal retrograde transport pathway. Neuron 52 (2006) 293-305
19. Bronfman F.C., Escudero C.A., Weis J., and Kruttgen A. Endosomal transport of neurotrophins: roles in signaling and neurodegenerative diseases. Dev. Neurobiol. 67 (2007) 1183-1203
20. Moises T., Dreier A., Flohr S., Esser M., Brauers E., Reiss K., Merken D., Weis J., and Krüttgen A. Tracking TrkA's trafficking: NGF receptor trafficking controls NGF receptor signaling. Mol. Neurobiol. 35 (2007) 151-159
21. Spinosa M.R., Progida C., De Luca A., Colucci A.M.R., Alifano P., and Bucci C. Functional characterization of Rab7 mutant proteins associated with Charcot-Marie-Tooth type 2B disease. J. Neurosci. 28 (2008) 1640-1648
22. Cantalupo G., Alifano P., Roberti V., Bruni C.B., and Bucci C. Rab-interacting lysosomal protein (RILP): the Rab7 effector required for transport to lysosomes. EMBO J. 20 (2001) 683-693
23. Colucci A.M.R., Campana M.C., Bellopede M., and Bucci C. The Rab-interacting lysosomal protein, a Rab7 and Rab34 effector, is capable of self-interaction. Biochem. Biophys. Res. Commun. 334 (2005) 128-133
24. Vitelli R., Santillo M., Lattero D., Chiariello M., Bifulco M., Bruni C.B., and Bucci C. Role of the small GTPase Rab7 in the late endocytic pathway. J. Biol. Chem. 272 (1997) 4391-4397
25. Landt O., Grunert H.P., and Hahn U. A general method for rapid site-directed mutagenesis using the polymerase chain reaction. Gene 96 (1990) 125-128
26. Bucci C., Parton R.G., Mather I.H., Stunnenberg H., Simons K., Hoflack B., and Zerial M. The small GTPase rab5 functions as a regulatory factor in the early endocytic pathway. Cell 70 (1992) 715-728
27. Chiariello M., Bruni C.B., and Bucci C. The small GTPases Rab5a, Rab5b and Rab5c are differentially phosphorylated in vitro. FEBS Lett. 453 (1999) 20-24
28. Stenmark H., Parton R.G., Steele-Mortimer O., Lutcke A., Gruenberg J., and Zerial M. Inhibition of rab5 GTPase activity stimulates membrane fusion in endocytosis. EMBO J. 13 (1994) 1287-1296
29. Shapiro A.D., Riederer M.A., and Pfeffer S.R. Biochemical analysis of rab9, a ras-like GTPase involved in protein transport from late endosomes to the trans Golgi network. J. Biol. Chem. 268 (1993) 6925-6931
30. Ceresa B.P. Regulation of EGFR endocytic trafficking by rab proteins. Histol. Histopathol. 21 (2006) 987-993
31. Wang T., and Hong W. RILP interacts with VPS22 and VPS36 of ESCRT-II and regulates their membrane recruitment. Biochem. Biophys. Res. Commun. 350 (2006) 413-423
32. Kjeldgaard M., Nyborg J., and Clark B.F. The GTP binding motif: variations on a theme. FASEB J. 10 (1996) 1347-1368
33. Segev N. Ypt and Rab GTPases: insight into functions through novel interactions. Curr. Opin. Cell Biol. 13 (2001) 500-511
34. Pfeffer S.R. Structural clues to Rab GTPase functional diversity. J. Biol. Chem. 280 (2005) 15485-15488