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
Author
UCL Queen Square Institute of NeurologyORCID 0000-0003-0607-0934Unclaimed ORCID profile · follow to get notified of new preprints
10 papers
Recent·Most cited
Riccardo Curró, Natalia Dominik, Stefano Facchini…·Andrea Cortese
Simon A. Lowe, Abigail D. Wilson, Ko‐Fan Chen, James E.C. Jepson
This study shows that nighttime sleep in Drosophila is necessary for mechanosensory habituation, likely by promoting synaptic downscaling.
Simon A. Lowe, James E.C. Jepson
This study shows that micro- and nano-plastics worsen Parkinson's Disease-like symptoms in a fruit fly model with mitochondrial defects.
Natalia Dominik, Stéphanie Efthymiou, Christopher J. Record…·Henry Houlden
The paper identifies biallelic variants in ARHGAP19 as a cause of motor-predominant neuropathy with conduction slowing in multiple families.
Celine Deneubourg, Hormos Salimi Dafsari, Simon A. Lowe…·Manolis Fanto
This study links proteotoxic stress from defective autophagy to epileptogenesis in Drosophila and Vici Syndrome patients, suggesting autophagy-stimulating diets as a potential treatment.
Simon A. Lowe, Abigail D. Wilson, Gabriel Aughey…·James E.C. Jepson
This study shows that gain-of-function BK channel mutations disrupt limb control in fruit flies by altering neuronal development during a critical period, not by affecting mature circuits.
Patrick Krätschmer, Simon A. Lowe, Edgar Buhl…·James E.C. Jepson
This study creates a Drosophila model with a hSlo1 D434G mutation, showing motor dysfunction and altered action potentials linked to BK channel gain-of-function.
Simon A. Lowe, Patrick Krätschmer, James E.C. Jepson
This study examines how a BK channel mutation affects synaptic plasticity and motor circuits in Drosophila larvae, finding altered neurotransmitter release and CPG dysfunction.
Simon A. Lowe, Maria M. Usowicz, James J. L. Hodge
This study shows that overexpressing the Drosophila DYRK1A ortholog, minibrain, in neurons leads to motor decline, neurodegeneration, and synaptic changes similar to Down syndrome features.
Roman Praschberger, Simon A. Lowe, Nancy T. Malintan…·James E.C. Jepson
This study investigates how mutations in Membrin/GOSR2 affect dendritic growth and synaptic integrity in Drosophila models, revealing their role in neurological disorders.