A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments

Fragile X syndrome (FXS) is caused by silencing of the FMR1 gene, which encodes a protein with a critical role in synaptic plasticity. The molecular abnormality underlying FMR1 silencing, CGG repeat expansion, is well characterized; however, delineation of the pathway from DNA to RNA to protein usin...

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Detalles Bibliográficos
Autores principales: Budimirovic, Dejan B., Schlageter, Annette, Filipovic-Sadic, Stela, Protic, Dragana D., Bram, Eran, Mahone, E. Mark, Nicholson, Kimberly, Culp, Kristen, Javanmardi, Kamyab, Kemppainen, Jon, Hadd, Andrew, Sharp, Kevin, Adayev, Tatyana, LaFauci, Giuseppe, Dobkin, Carl, Zhou, Lili, Brown, William Ted, Berry-Kravis, Elizabeth, Kaufmann, Walter E., Latham, Gary J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7601415/
https://www.ncbi.nlm.nih.gov/pubmed/33008014
http://dx.doi.org/10.3390/brainsci10100694

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7601415/
https://www.ncbi.nlm.nih.gov/pubmed/33008014
http://dx.doi.org/10.3390/brainsci10100694

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