James E.C. Jepson

CANVAS causing AAGGG repeat expansions cause tissue-specific reduction in RFC1 expression and increase sensitivity to DNA damage

Nighttime sleep promotes mechanosensory habituation in Drosophila

This study shows that nighttime sleep in Drosophila is necessary for mechanosensory habituation, likely by promoting synaptic downscaling.

Micro-/nano-plastics accentuate Parkinson's Disease-relevant phenotypes in a Drosophila model

This study shows that micro- and nano-plastics worsen Parkinson's Disease-like symptoms in a fruit fly model with mitochondrial defects.

Pharmacological rescue of motor circuit dysfunction in a Drosophila model of paroxysmal dyskinesia

This study identifies acetylcholinesterase inhibitors as potential treatments for paroxysmal dyskinesia by rescuing motor defects in a Drosophila model with BK channel gain-of-function.

Biallelic variants in ARHGAP19 cause a motor-predominant neuropathy with asymmetry and conduction slowing

The paper identifies biallelic variants in ARHGAP19 as a cause of motor-predominant neuropathy with conduction slowing in multiple families.

Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in Drosophila and Vici Syndrome patients

This study links proteotoxic stress from defective autophagy to epileptogenesis in Drosophila and Vici Syndrome patients, suggesting autophagy-stimulating diets as a potential treatment.

BK channel gain-of-function disrupts limb control by suppressing neurotransmission during a critical developmental window

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.

A knock-in Drosophila model supports a conserved link between potassium channelopathy and involuntary movement

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.

Altered synaptic plasticity and central pattern generator dysfunction in a Drosophila model of PNKD3 paroxysmal dyskinesia

This study examines how a BK channel mutation affects synaptic plasticity and motor circuits in Drosophila larvae, finding altered neurotransmitter release and CPG dysfunction.

Antagonistic Regulation of Circadian Output and Synaptic Development by the E3 Ubiquitin Ligase JETLAG and the DYSCHRONIC-SLOWPOKE Complex

The paper shows JETLAG and the DYSCHRONIC-SLOWPOKE complex antagonistically regulate circadian output and synaptic development in Drosophila.

A sleep-regulatory circuit integrating circadian, homeostatic and environmental information in Drosophila

This study identifies a circuit in Drosophila where DN1p neurons integrate circadian, homeostatic, and environmental cues to regulate sleep onset.

The Drosophila dystonia gene homolog Neurocalcin facilitates sleep by inhibiting a movement-promoting neural network

This study identifies Neurocalcin's role in promoting sleep by inhibiting a movement-promoting neural network in Drosophila.

Mutations In Membrin/GOSR2 Reveal Stringent Secretory Pathway Demands Of Dendritic Growth And Synaptic Integrity

This study investigates how mutations in Membrin/GOSR2 affect dendritic growth and synaptic integrity in Drosophila models, revealing their role in neurological disorders.

Mitochondrial impairment and rescue in riboflavin responsive neuropathy

This study identifies RFVT gene mutations in BVVLS, shows mitochondrial dysfunction, and demonstrates therapeutic potential with riboflavin esters.

Regulation of sleep plasticity by a thermo-sensitive circuit in Drosophila

This study identifies a thermo-sensitive circuit in Drosophila that delays daytime siesta onset in response to elevated temperatures.