Avances en investigación de la discapacidad intelectual de origen genético: tratamientos experimentales en el síndrome X frágil
Resumen
De Diego Otero, Y. et al. (2017): “Avances en investigación de la discapacidad intelectual de origen genético: tratamientos experimentales en el síndrome X frágil”. Revista Española de Discapacidad, 5 (I): 217-227.
Citas
Bechara, E. G. et al. (2009): “A novel function for fragile X mental retardation protein in translational activation”. PLoS Biol, 7 (1): e16.
Berry-Kravis, E. y Potanos, K. (2004): “Psychopharmacology in fragile X syndrome— present and future”. Ment Retard Dev Disabil Res Rev, 10 (1): 42-48.
Bourgeois, J. A. et al. (2009): “A review of fragile X premutation disorders: expanding the psychiatric perspective”. J Clin Psychiatry, 70 (6): 852-862.
Brown, V. et al. (2001): “Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome”. Cell, 107 (4): 477-487.
Chen, L. et al. (2003): “The fragile X mental retardation protein binds and regulates a novel class of mRNAs containing U rich target sequences”. Neuroscience, 120 (4): 1005-1017.
Chiurazzi, P. et al. (2003): “Understanding the biological underpinnings of fragile X syndrome”. Curr Opin Pediatr, 15 (6): 559-566.
Chiurazzi, P. et al. (1999): “Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 gene”. Hum Mol Genet, 8 (12): 2317-2323.
Davidovic, L. et al. (2011): “A metabolomic and systems biology perspective on the brain of the fragile X syndrome mouse model”. Genome Res, 21 (12): 2190-2202.
De Diego Otero, Y. et al. (2014): “A combination of ascorbic acid and a-tocopherol to test the effectiveness and safety in the fragile X syndrome: study protocol for a phase II, randomized, placebo-controlled trial”. Trials, 15: 345.
De Diego Otero, Y. et al. (2009): “Alpha-tocopherol protects against oxidative stress in the fragile X knockout mouse: an experimental therapeutic approach for the Fmr1 deficiency”. Neuropsychopharmacology, 34 (4): 1011-1026.
Dyer-Friedman, J. et al. (2002): “Genetic and environmental influences on the cognitive outcomes of children with fragile X syndrome”. J Am Acad Child Adolesc Psychiatry, 41 (3): 237-244.
El Bekay, R. et al. (2007): “Enhanced markers of oxidative stress, altered antioxidants and NADPH-oxidase activation in brains from Fragile X mental retardation 1-deficient mice, a pathological model for Fragile X syndrome”. Eur J Neurosci, 26 (11): 3169-3180.
Fernandez-Carvajal, I. et al. (2009): “Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population”. J Mol Diagn, 11 (4): 324-329.
Fisch, G. S. et al. (1988): “Folic acid treatment of fragile X males: a further study”. Am J Med Genet, 30 (1-2): 393-399.
Fung, L. K. y Reiss, A. L. (2016): “Moving Toward Integrative, Multidimensional Research in Modern Psychiatry: Lessons Learned From Fragile X Syndrome”. Biol Psychiatry, 80 (2): 100-111.
Gatto, C. L. y Broadie, K. (2010): “Genetic controls balancing excitatory and inhibitory synaptogenesis in neurodevelopmental disorder models”. Front Synaptic Neurosci, 2: 4.
Gomis-González, M. et al. (2016): “Possible Therapeutic Doses of Cannabinoid Type 1 Receptor Antagonist Reverses Key. Alterations in Fragile X Syndrome Mouse Model”. Genes (Basel), 7 (9).
Greiss Hess, L. et al. (2016): “A Randomized, Double-Blind, Placebo-Controlled Trial of Low-Dose Sertraline in Young Children With Fragile X Syndrome”. J Dev Behav Pediatr, 37 (8): 619-628.
Grigsby, J. (2016): “The fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiology”. Clin Neuropsychol, 30 (6): 815-833.
Hagerman, R. J. et al. (2014): “Translating molecular advances in fragile X syndrome into therapy: a review”. J Clin Psychiatry, 75 (4): e294-307.
Hagerman, R. J. (2006): “Lessons from fragile X regarding neurobiology, autism, and neurodegeneration”. J Dev Behav Pediatr, 27 (1): 63-74.
Hagerman, R. J. y Hagerman, P. J. (2002): Fragile X syndrome. 3er ed. Baltimore: The Johns Hopkins University Press.
Hanson, A. C y Hagerman, R. J. (2014): “Serotonin dysregulation in Fragile X Syndrome: implications for treatment”. Intractable Rare Dis Res, 3 (4): 110-117.
He, C. X. y Portera-Cailliau, C. (2013): “The trouble with spines in fragile X syndrome: density, maturity and plasticity”. Neuroscience, 251: 120-128.
Iossifov, I. et al. (2012): “De novo gene disruptions in children on the autistic spectrum”. Neuron, 74 (2): 285-299.
Jacquemont, S. et al. (2011): “Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056”. Sci Transl Med, 3 (64): 64ra1.
Leigh, M. J. et al. (2013): “A randomized double-blind placebo-controlled trial of minocycline in children and adolescents with fragile x syndrome”. J Dev Behav Pediatr, 34 (3): 147- 155.
Ligsay, A. y Hagerman, R. J. (2016): “Review of targeted treatments in fragile X syndrome”. Intractable Rare Dis Res, 5 (3): 158-167.
Lima-Cabello, E. et al. (2016): “An Abnormal Nitric Oxide Metabolism Contributes to Brain Oxidative Stress in the Mouse Model for the Fragile X Syndrome, a Possible Role in Intellectual Disability”. Oxid Med Cell Longev, 2016.
Paribello, C. et al. (2010): “Open-label add-on treatment trial of minocycline in fragile X syndrome”. BMC Neuron, 10: 91.
Restivo, L. et al. (2005): “Enriched environment promotes behavioral and morphological recovery in a mouse model for the fragile X syndrome”. Proc Natl Acad Sci U S A, 102 (32): 11557-11562.
Romero-Zerbo, Y. et al. (2009): “Protective effects of melatonin against oxidative stress in Fmr1 knockout mice: a therapeutic research model for the fragile X syndrome”. J Pineal Res, 46 (2): 224-234.
Saldarriaga, W. et al. (2014): “Fragile X síndrome”. Colomb Med (Cali), 45 (4): 190-198.
Sahu, J. K. et al. (2013): “Effectiveness and safety of donepezil in boys with fragile x syndrome: a double-blind, randomized, controlled pilot study”. J Child Neurol, 28 (5): 570-575.
Sidorov, M. S. et al. (2013): “Fragile X mental retardation protein and synaptic plasticity”. Mol Brain, 6: 15.
Tang, A. H. y Alger, B. E. (2015): “Homer protein-metabotropic glutamate receptor binding regulates endocannabinoid signaling and affects hyperexcitability in a mouse model of fragile X syndrome”. J Neurosci. 35 (9): 3938-3945.
Tassone, F. et al. (2001): “A majority of fragile X males with methylated, full mutation alleles have significant levels of FMR1 messenger RNA”. J Med Genet. 38 (7): 453-456.
Torrioli, M. G. et al. (2008): “A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys”. Am J Med Genet A, 146 (7): 803-812.
Utine, G. E. et al. (2014): “Neurochemical evaluation of brain function with 1H magnetic resonance spectroscopy in patients with fragile X syndrome”. Am J Med Genet A, 164A (1): 99-105.
Wirojanan, J. et al. (2009): “The efficacy of melatonin for sleep problems in children with autism, fragile X syndrome, or autism and fragile X syndrome”. J Clin Sleep Med, 5 (2): 145-150.
Como revista de acceso abierto, el acceso a los contenidos de la revista tendrá carácter gratuito y los derechos de propiedad están sujetos a una licencia Creative Commons. Más concretamente, la revista estará bajo la licencia ‘Reconocimiento - NoComercial – Sin obra derivada (by-nc-nd’). Esta licencia permite el uso gratuito de los contenidos, pero no permite un uso comercial de la obra original ni la generación de obras derivadas.
