Identification and small molecule rescue of mitochondrial dysfunction phenotype which converges across Leigh Syndrome and Huntington's Disease patient fibroblasts.
Naomi Hartopp, Laura V. Ellis, Rachel M. Hughes, Emily Mossman, Ella Simmonite, Anastasia Thoma, Fatima-ezzahra Errachidi, Gauri Bhosale, Alessandro Pristerà, Scott P. Allen, Laura Ferraiuolo, Pamela J Shaw, Oliver Bandmann, Heather Mortiboys
This study identifies a common mitochondrial dysfunction phenotype in Leigh syndrome and Huntington's disease patient fibroblasts and finds that the AMPK activator A769662 rescues this phenotype in both conditions.
bioRxiv · Jun 8, 2026 · PreprintNeuroscience