This study identifies potential small molecule chaperone activators for neurodegenerative disease by screening compounds that disrupt HSF1-HSP90 interaction and reduce TDP-43 accumulation.

Biomedicine & Pharmacotherapy · Apr 14, 2025Peer-reviewedMolecular Biology

Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at Chr16q11.2 and on the MAPT H1 allele

Marc P. M. Soutar, Daniela Melandri, Benjamin J. O’Callaghan, Emily Annuario, Amy E. Monaghan, Natalie J. Welsh, Karishma D’Sa, Sebastian Guelfi, David Zhang, Alan Michael Pittman, Daniah Trabzuni, Anouk H. A. Verboven, Kylie S. Pan, Demis A. Kia, Magda Bictash, , Hélène Plun‐Favreau

The paper identifies KAT8 and KANSL1 as regulators of PINK1-mitophagy linked to Parkinson's disease risk, suggesting a novel pathway for therapeutic targeting.

Brain · Sep 7, 2022Peer-reviewedNeuroscience

Molecular and functional variation in iPSC-derived sensory neurons

Jeremy Schwartzentruber, Stefanie Foskolou, Helena Kilpinen, Julia Rodrigues, Kaur Alasoo, Andrew J. Knights, Minal J Patel, Ângela Gonçalves, Rita Ferreira, Caroline Benn, Anna L. Wilbrey, Magda Bictash, Emma Impey, Lishuang Cao, Sergio Laínez, , Daniel J. Gaffney

The paper maps regulatory variants in iPSC-derived sensory neurons, identifying genetic influences on gene expression, chromatin accessibility, and RNA splicing, with overlaps to disease associations.

Nature Genetics · Dec 10, 2017Peer-reviewedGenomics