What question did this study set out to answer?

To determine whether repeat expansions in the ATXN1 gene increase the risk of amyotrophic lateral sclerosis and assess their cellular impact on TDP-43 localization.

January 1, 2020Brain CommunicationsOpen Access

ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization

View Full Paper

Ask AI

Bookmark

Authors

GTGijs H P TazelaarUtrecht University SBSteven BoeynaemsBaylor University MDMathias De DeckerAllen Institute for Brain Science

Discussion

Member takes

Implication

Genetic association study uncovers intermediate ATXN1 repeat expansions in amyotrophic lateral sclerosis, suggesting a role in TDP-43 mislocalization.

Key Points

To determine whether repeat expansions in the ATXN1 gene increase the risk of amyotrophic lateral sclerosis and assess their cellular impact on TDP-43 localization.
Conducted a large-scale international genetic association study evaluating ATXN1 repeat expansions in 11,700 individuals.
Performed in vivo functional analyses in Drosophila disease models to test effects on neurodegenerative phenotypes and TDP-43 nucleocytoplasmic localization.
Identified a statistically significant association between intermediate ATXN1 repeat expansions and amyotrophic lateral sclerosis (P = 3.33 × 10−7).
Demonstrated that ATXN1 reduces the nucleocytoplasmic ratio of TDP-43 and exacerbates amyotrophic lateral sclerosis phenotypes in Drosophila.

Cite This Study

Tazelaar et al. (2020) studied this question.

synapsesocial.com/papers/6aae319289ab2fb759164758 https://doi.org/10.1093/braincomms/fcaa064

View Full Paper

Ask AI

Bookmark

Implication

Genetic association study uncovers intermediate ATXN1 repeat expansions in amyotrophic lateral sclerosis, suggesting a role in TDP-43 mislocalization.

ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization

Discussion

Member takes

Implication

Key Points

Cite This Study

ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization

Discussion

Member takes

Implication

Key Points

Cite This Study

Also Consider

Also Consider