A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: additional cases and literature review.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of human genetics"
DOI: 10.1038/s10038-021-00969-z
Abstract: NPRL2 (nitrogen permease regulator like 2) is a component of the GATOR1(GAP activity towards rags complex 1) proteins, which is an inhibitor of the amino acid-sensing branch of the mTORC1 pathway. GATOR1 complex variations were… read more here.
Keywords: splicing variation; familial focal; focal epilepsy; variable foci ... See more keywords
Absence of significant off-target splicing variation with a U7snRNA vector targeting DMD exon 2 duplications.
Sign Up to like & getrecommendations! Published in 2021 at "Human gene therapy"
DOI: 10.1089/hum.2020.315
Abstract: Exon skipping therapies for Duchenne muscular dystrophy that restore an open reading frame can be induced by the use of non-coding U7 small nuclear RNA (U7snRNA) modified by an antisense exon-targeting sequence delivered by an… read more here.
Keywords: vector; splicing variation; dmd exon; target ... See more keywords