Nesli-Ece Sen

TL;DR: Exome sequencing revealed mutations in OPTN, SPG11, DJ1, PLEKHG5, SYNE1, TRPM7, and SQSTM1 genes, many of them novel.

TL;DR: Overall, ATXN2 appears to modulate nutrition and metabolism, and its activity changes are determinants of growth excess or cell atrophy, in good agreement with recent claims that PBP1, the yeast ortholog of ATXn2, sequestrates the nutrient sensor TORC1 in periods of cell stress.

TL;DR: In this paper, it was shown that ATXN2 depletion is surprisingly efficient in preventing motor neuron and cerebellar atrophy, as demonstrated in mouse models, flies, and yeast.

TL;DR: Findings suggest that ATXN2 may modify the known PINK1 roles for mitochondrial quality control and autophagy during cell stress, which provides a concept how the degeneration of nigrostriatal dopaminergic neurons and the Parkinson phenotype may be triggered by ATXn2 mutations.

TL;DR: A novel authentic rodent model of SCA2 is presented, where in vivo magnetic resonance imaging was feasible to monitor progression and where the definition of earliest transcriptional abnormalities was possible, and it is believed that this model will reveal crucial insights regarding the pathomechanism ofSCA2 and other ATXN2-associated disorders, but will also aid in developing gene-targeted therapies and disease prevention.