Sharon Carmona

TL;DR: Findings support the idea that the buildup of “toxic” RNA containing the GGGGCC repeat contributes to the death of motor neurons in ALS, and suggest that antisense oligonucleotides targeting this transcript may be a strategy for treating ALS patients with the C9ORF72 repeat expansion.

TL;DR: It is found that two independent mouse lines lacking the C9orf72 ortholog in all tissues developed normally and aged without motor neuron disease, and altered microglial function may contribute to neurodegeneration in C 9orf72 expansion carriers.

TL;DR: In this article, the authors report transgenic mice carrying a bacterial artificial chromosome (BAC) containing the full human C9orf72 gene with either a normal allele (15 repeats) or disease-associated expansion (∼100-1,000 repeats; C9-BACexp).

TL;DR: Transgenic mice carrying a bacterial artificial chromosome containing the full human C9orf72 gene with either a normal allele (15 repeats) or disease-associated expansion (∼100-1,000 repeats; C9-BACexp) are reported, supporting the hypothesis that RNA foci and RAN dipeptides occur presymptomatically and are not sufficient to drive neurodegeneration in mice at levels seen in patients.

TL;DR: Using a transgenic approach, it is found that augmenting the level of MFN1 in the nervous system in vivo rescued all phenotypes in mutant MFN2R94Q-expressing mice, demonstrating that the MFN 1/MFN2 ratio is a key determinant of tissue specificity in CMT2A and indicating that augmentation of MFn1 inThe nervous system is a viable therapeutic strategy for the disease.