INVESTIGADORES
PARBORELL Maria Fernanda Agustina
artículos
Título:
Expression and characterisation of Fmr1 splice variants during folliculogenesis in the rat
Autor/es:
FERDER, IANINA C.; ESPECHE, LUCÍA D.; BRUQUE, CARLOS D.; PARBORELL, FERNANDA; TESONE, MARTA; DAIN, LILIANA
Revista:
REPRODUCTION FERTILITY AND DEVELOPMENT
Editorial:
CSIRO PUBLISHING
Referencias:
Año: 2022
ISSN:
1031-3613
Resumen:
The FMR1 gene consists of 17 exons and codes for the FMRP protein. FMR1 is involved in four genetic disorders depending on the CGG repeats length in its 5´UTR: the full mutation is responsible for the Fragile X syndrome while the premutation is associated with the Fragile X-associated Tremor/Ataxia Syndrome, Fragile X-associated Primary Ovarian Insufficiency (FXPOI) and Fragile X-associated neuropsychiatric disorders. FMR1 presents multiple isoforms resulting from skipping of exons 12 and 14 and the use of alternative splice sites in exons 15 and 17.
