LMNB1 mutation causes cerebellar involvement and a genome instability defect
Sign Up to like & getrecommendations! Published in 2017 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2017.06.027
Abstract: Please cite this article as: José Luiz Pedroso, Veridiana Munford, André Uchimura Bastos, Ligia Pereira de Castro, Victor Hugo Rocha Marussi, Gisele Sampaio Silva, Juliana Harumi Arita, Carlos F.M. Menck, Orlando G. Barsottini , LMNB1… read more here.
Keywords: lmnb1 mutation; cerebellar involvement; genome instability; causes cerebellar ... See more keywords
A dominant tubulin mutation causes cerebellar neurodegeneration in a genetic model of tubulinopathy
Sign Up to like & getrecommendations! Published in 2022 at "Science Advances"
DOI: 10.1126/sciadv.abf7262
Abstract: Mutations in tubulins cause distinct neurodevelopmental and degenerative diseases termed “tubulinopathies”; however, little is known about the functional requirements of tubulins or how mutations cause cell-specific pathologies. Here, we identify a mutation in the gene… read more here.
Keywords: cell; mutation causes; dominant tubulin; mutation ... See more keywords