Publication: Control presináptico por receptores acoplados a proteínas G, GPCRs, en un ratón modelo del síndrome del X frágil
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2020-03-27
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Universidad Complutense de Madrid
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Abstract
El síndrome del X frágil (FXS) es la enfermedad mental de carácter hereditario más importante y se asocia con alteraciones como déficits cognitivos, hiperactividad, ansiedad y problemas de interacción social. En el FXS se produce un silenciamiento del gen Fmr1 que codifica para la proteína FMRP, que regula la expresión génica mediante su interacción con ARNm. Cuando FMRP está ausente, se produce una alteración en la expresión de gran cantidad de proteínas postsinápticas así como en formas de plasticidad a largo plazo. Además, FMRP se localiza en axones y en el terminal presináptico donde también regula la expresión de múltiples proteínas presinápticas...
Fragile X syndrome (FXS) is the most common inherited intellectual disability and it is associated with multiple behavioral alterations, including cognitive deficits, hyperactivity, anxiety and deficits in social behavior. In FXS, the Fmr1 gene that encodes the fragile mental retardation protein (FMRP) is silenced. FMRP modulates gene expression through changes in the stability and transport of its mRNA targets. When FMRP is absent the expression of many postsynaptic proteins is altered as well as postsynaptic long-term forms of plasticity. FMRP is also found in axons and presynaptic nerve terminals and mRNA targets encoding for presynaptic proteins were identified...
Fragile X syndrome (FXS) is the most common inherited intellectual disability and it is associated with multiple behavioral alterations, including cognitive deficits, hyperactivity, anxiety and deficits in social behavior. In FXS, the Fmr1 gene that encodes the fragile mental retardation protein (FMRP) is silenced. FMRP modulates gene expression through changes in the stability and transport of its mRNA targets. When FMRP is absent the expression of many postsynaptic proteins is altered as well as postsynaptic long-term forms of plasticity. FMRP is also found in axons and presynaptic nerve terminals and mRNA targets encoding for presynaptic proteins were identified...
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Tesis inédita de la Universidad Complutense de Madrid, Facultad de Farmacia, leída el 21/11/2019