Non-Familial ALS: A tangled web
Sign Up to like & getrecommendations! Published in 2017 at "Nature"
DOI: 10.1038/550s109a
Abstract: Research ranging in scale from cells to populations is rapidly closing in on what goes awry in the body in 'non-familial' ALS, and what environmental factors might contribute. read more here.
Keywords: familial als; tangled web; non familial; als tangled ... See more keywords
Cx43 hemichannels contribute to astrocyte-mediated toxicity in sporadic and familial ALS
Sign Up to like & getrecommendations! Published in 2022 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2107391119
Abstract: Significance Our results demonstrate that connexin 43 hemichannels are the conduits for amyotrophic lateral sclerosis (ALS) astrocyte-mediated motor neuron toxicity and disease spread, acting as a common mechanism that can target both familial ALS and… read more here.
Keywords: familial als; contribute astrocyte; astrocyte mediated; cx43 hemichannels ... See more keywords
Familial ALS-associated SFPQ variants promote the formation of SFPQ cytoplasmic aggregates in primary neurons
Sign Up to like & getrecommendations! Published in 2022 at "Open Biology"
DOI: 10.1098/rsob.220187
Abstract: Splicing factor proline- and glutamine-rich (SFPQ) is a nuclear RNA-binding protein that is involved in a wide range of physiological processes including neuronal development and homeostasis. However, the mislocalization and cytoplasmic aggregation of SFPQ are… read more here.
Keywords: familial als; associated sfpq; sfpq cytoplasmic; sfpq ... See more keywords
Functional Characterization of a Familial ALS-Associated Missense TBK1 (p-Arg573Gly) Mutation in Patient-Derived Lymphoblasts
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24032847
Abstract: The goal of this work was to elucidate the pathogenic mechanism of an ALS-associated missense mutation, p.Arg573Gly (R573G), in the TBK1 gene. In particular, we seek to analyze the influence of this variant on the… read more here.
Keywords: functional characterization; tbk1; familial als; characterization familial ... See more keywords