CANVAS causing AAGGG repeat expansions cause tissue-specific reduction in RFC1 expression and increase sensitivity to DNA damage
Riccardo Curró, Natalia Dominik, Stefano Facchini…·Andrea Cortese
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Northwestern UniversityORCID 0000-0001-9110-2202Unclaimed ORCID profile · follow to get notified of new preprints
4 papers
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Riccardo Curró, Natalia Dominik, Stefano Facchini…·Andrea Cortese
Jean‐Michel Paumier, James P. Zewe, Chiranjit Panja…·Puneet Opal
This paper shows that neurofilament accumulation in GAN disrupts autophagy through impaired organelle distribution and sequestration of 14-3-3, affecting TFEB localization.
Cassandra L. Phillips, Maryam Faridounnia, Rachel A. Battaglia…·Natasha Tasheva Snider
This study identifies RNA-binding protein interactions of gigaxonin, a protein mutated in Giant Axonal Neuropathy, revealing potential mechanisms linking its dysfunction to neurodegeneration.
Chandrakanth Reddy Edamakanti, Vishwa Mohan, Puneet Opal
The paper identifies a JNK-dependent signaling pathway in Bergmann glia that drives inflammation in spinocerebellar ataxia, showing that inhibiting this pathway improves disease symptoms.