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References

These sources were used to develop the Genetics Home Reference gene summary on the RAB7A gene.

Bucci C, Thomsen P, Nicoziani P, McCarthy J, van Deurs B. Rab7: a key to lysosome biogenesis. Mol Biol Cell. 2000 Feb;11(2):467-80. PubMed citation
De Luca A, Progida C, Spinosa MR, Alifano P, Bucci C. Characterization of the Rab7K157N mutant protein associated with Charcot-Marie-Tooth type 2B. Biochem Biophys Res Commun. 2008 Jul 25;372(2):283-7. doi: 10.1016/j.bbrc.2008.05.060. Epub 2008 May 21. PubMed citation
Entrez Gene
Houlden H, King RH, Muddle JR, Warner TT, Reilly MM, Orrell RW, Ginsberg L. A novel RAB7 mutation associated with ulcero-mutilating neuropathy. Ann Neurol. 2004 Oct;56(4):586-90. PubMed citation
Meggouh F, Bienfait HM, Weterman MA, de Visser M, Baas F. Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene. Neurology. 2006 Oct 24;67(8):1476-8. PubMed citation
OMIM: RAS-ASSOCIATED PROTEIN RAB7
Saxena S, Bucci C, Weis J, Kruttgen A. The small GTPase Rab7 controls the endosomal trafficking and neuritogenic signaling of the nerve growth factor receptor TrkA. J Neurosci. 2005 Nov 23;25(47):10930-40. PubMed citation
Spinosa MR, Progida C, De Luca A, Colucci AM, Alifano P, Bucci C. Functional characterization of Rab7 mutant proteins associated with Charcot-Marie-Tooth type 2B disease. J Neurosci. 2008 Feb 13;28(7):1640-8. doi: 10.1523/JNEUROSCI.3677-07.2008. PubMed citation
Vanlandingham PA, Ceresa BP. Rab7 regulates late endocytic trafficking downstream of multivesicular body biogenesis and cargo sequestration. J Biol Chem. 2009 May 1;284(18):12110-24. doi: 10.1074/jbc.M809277200. Epub 2009 Mar 5. PubMed citation
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. Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am J Hum Genet. 2003 Mar;72(3):722-7. Epub 2003 Jan 21. PubMed citation
Young P, Suter U. The causes of Charcot-Marie-Tooth disease. Cell Mol Life Sci. 2003 Dec;60(12):2547-60. Review. PubMed citation


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