Page 123 - ACCB 2020
P. 123

Variantes del gen GBA en el Suroccidente Colombiano. Arturo-Terranova  et al




                   19.  Drugan C, Procopciuc L, Jebeleanu G, Grigorescu-Sido P, Dussau J, Poenaru L, et al. (2002).  Enfer-
                       medad de Gaucher en pacientes rumanos: incidencia de las mutaciones y manifestaciones fenotípicas
                       más comunes. Eur J Hum Genet. ; 10 (9): 511–515.
                   20.  Riboldi GM, & Di Fonzo AB. (2019). GBA, Gaucher Disease, and Parkinson’s Disease: From Genetic
                       to Clinic to New Therapeutic Approaches. Cells; 8(4): 364. http://doi.org/10.3390/cells8040364
                   21.  López Reyes I, Esperón Álvarez AA, Lavaut Sánchez K, Puerta Díaz A, Santos González EN, Rubio
                       González T, et al (2019) Caracterización molecular del gen GBA en pacientes cubanos con enfermedad
                       de Gaucher. Rev gen com; 11(1)
                   22.  Pomponio RJ, Cabrera-Salazar MA, Echeverri OY, Miller G, Barrera LA (2005). Guacher disease in
                       Colombia: mutation identifi cation and comparison to other Hispanic populations. Mol Genet Metab;
                       86: 466-72
                   23.  Stirnemann J, Belmatoug N, Camou F, Serratrice C, Froissart R, Caillaud C,et al . (2017). A Review
                       of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments. Int J Mol Sci; 17;18(2).
                       http://doi.org/10.3390/ijms18020441.
                   24.  Goker-Alpan O, Hruska K, Orvisky E, Kishanani P, Stubblefi eld BK, Schiffmann R et al (2005). Diver-
                       gent phenotypes in Gaucher disease implicate the role of modifi ers.J Med Genet; 42(6):e 37
                   25.  Kumar K, Ramirez A, Gobel A, Kresojevic N, Svetel M, Lohmann K, et al (2013). Glucocerebrosidase
                       mutations in a Serbian Parkinson’s disease population. European Journal of Neurology., 20: 402–405
                   26.  Liu G, Boot B, Locascio JJ, Jansen IE, Winder-Rhodes S, Eberly S, et al (2016). Specifi cally, neuro-
                       pathic Gaucher’s mutations accelerate cognitive decline in Parkinson’s. Ann Neurol; 80(5), 674–685.
                       https://doi.org/10.1002/ana.24781
                   27.  Paciottia S, Persichettia E , Pagliardini S, Deganutoc M, Rosano C et al. (2012). First pilot newborn
                       screening for four lysosomal storage diseases in an Italian region: Identifi cation and analysis of a puta-
                       tive causative mutation in the GBA gene Clinica Chimica Acta; 413: 23–24, 20
                   28.  Goker-Alpan O, Schiffmann R, Park J, Stubblefi eld B, Tayebi N, Sidransky E. (2003). Phenotypic
                       continuum in neuronopathic gaucher disease: an intermediate phenotype between type 2 and type 3. J
                       Pediatr.; 143(2) 273-276
                   29.  Chan A, Holleran W, Ferguson T, Crumrine D, Goker-Alpan O, Schiffman R, et al. (2011). Skin ul-
                       trastructural fi ndings in type 2 Gaucher disease: Diagnostic implications. Mol Genet Metab; 104 (4):
                       631-636
                   30.  Z. Kato, S. Fukuda, S. Tomatsu, H. Vega, T. Yasunaga, A. Yamagishi, et al.(1997). A novel common
                       missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccha-
                       ridosis IVA, Hum. Genet. 101 (1): 97–101
                   31.  Moors, T.E., Paciotti, S., Ingrassia, A. et al. (2019) Characterization of Brain Lysosomal Activities in
                       GBA-Related and Sporadic Parkinson’s Disease and Dementia with Lewy Bodies. Mol Neurobiol 56,
                       1344–1355. https://doi.org/10.1007/s12035-018-1090-0
                   32.  Siebert M, Bock H, Michelin-Tirelli K, Coelho J, Giugliani R, Saraiva-Pereira ML. (2011). Novel Mu-
                       tations in the Glucocerebrosidase Gene of Brazilian Patients with Gaucher Disease. JIMD R; 9:7-16.
                       http://doi.org/10.1007/8904_2012_174
                   33.  J.A. Ruskey, L. Greenbaum, Lé. Roncière, A. Alam, D. Spiegelman, C. Liong, O.A. et al (2018) In-
                       creased yield of full GBA sequencing in Ashkenazi Jews with Parkinson’s disease. Eur J Med Genet;
                       62(1):65-69. http://doi.org/10.1016/j.ejmg.2018.05.005



















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