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Auteur N. CHARLET-BERGUERAND |
Documents disponibles écrits par cet auteur (1)
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The multiple molecular facets of fragile X-associated tremor/ataxia syndrome / C. SELLIER in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)
[article]
Titre : The multiple molecular facets of fragile X-associated tremor/ataxia syndrome Type de document : Texte imprimé et/ou numérique Auteurs : C. SELLIER, Auteur ; K. USDIN, Auteur ; C. PASTORI, Auteur ; V. J. PESCHANSKY, Auteur ; F. TASSONE, Auteur ; N. CHARLET-BERGUERAND, Auteur Article en page(s) : p.23 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset inherited neurodegenerative disorder characterized by intentional tremor, gait ataxia, autonomic dysfunction, and cognitive decline. FXTAS is caused by the presence of a long CGG repeat tract in the 5' UTR of the FMR1 gene. In contrast to Fragile X syndrome, in which the FMR1 gene harbors over 200 CGG repeats but is transcriptionally silent, the clinical features of FXTAS arise from a toxic gain of function of the elevated levels of FMR1 transcript containing the long CGG tract. However, how this RNA leads to neuronal cell dysfunction is unknown. Here, we discuss the latest advances in the current understanding of the possible molecular basis of FXTAS. En ligne : http://dx.doi.org/10.1186/1866-1955-6-23 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346
in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.23[article] The multiple molecular facets of fragile X-associated tremor/ataxia syndrome [Texte imprimé et/ou numérique] / C. SELLIER, Auteur ; K. USDIN, Auteur ; C. PASTORI, Auteur ; V. J. PESCHANSKY, Auteur ; F. TASSONE, Auteur ; N. CHARLET-BERGUERAND, Auteur . - p.23.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.23
Index. décimale : PER Périodiques Résumé : Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset inherited neurodegenerative disorder characterized by intentional tremor, gait ataxia, autonomic dysfunction, and cognitive decline. FXTAS is caused by the presence of a long CGG repeat tract in the 5' UTR of the FMR1 gene. In contrast to Fragile X syndrome, in which the FMR1 gene harbors over 200 CGG repeats but is transcriptionally silent, the clinical features of FXTAS arise from a toxic gain of function of the elevated levels of FMR1 transcript containing the long CGG tract. However, how this RNA leads to neuronal cell dysfunction is unknown. Here, we discuss the latest advances in the current understanding of the possible molecular basis of FXTAS. En ligne : http://dx.doi.org/10.1186/1866-1955-6-23 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346