Jonathan Gilley

Human promoter analysis of the Programmed Axon Death genes NMNAT2 and SARM1

The paper identifies promoter variants in NMNAT2 and SARM1 that affect their transcription levels and may contribute to susceptibility to Programmed Axon Death.

Chronically low NMNAT2 expression causes sub-lethal SARM1 activation and altered response to nicotinamide riboside in axons

This study shows that low NMNAT2 levels cause sub-lethal SARM1 activation and reduce the effectiveness of nicotinamide riboside in axons, leading to axonal defects and behavioral changes in mice.

The NAD+ precursor NMN activates dSarm to trigger axon degeneration in Drosophila

This study shows that reducing NMN levels in Drosophila prevents axon degeneration and neurodegeneration, revealing NMN's role in axon injury and disease.

NAD homeostasis maintained by NMNAT2 supports vesicular glycolysis and fuels fast axonal transport in distal axons of cortical glutamatergic neurons in mice

This study shows NMNAT2 maintains NAD redox potential in axons to support glycolysis and fast transport, preventing axonal degeneration in mice.

NMNAT2 in cortical glutamatergic neurons exerts both cell and non-cell autonomous influences to shape cortical development and to maintain neuronal health

This study shows that NMNAT2 deletion in cortical glutamatergic neurons causes neurodegeneration and disrupts cortical development, with Sarm1 loss partially rescuing these effects.

Potent activation of SARM1 by NMN analogue VMN underlies vacor neurotoxicity

This study identifies VMN, a metabolite of the pesticide vacor, as a potent SARM1 activator, showing that SARM1 removal rescues vacor-induced neuron and axon death.

Mitochondrial impairment activates the Wallerian pathway through depletion of NMNAT2 leading to SARM1-dependent axon degeneration

This study shows mitochondrial impairment triggers Wallerian-like axon degeneration by depleting NMNAT2, activating SARM1, and replicating key steps of the Wallerian pathway in mice and flies.

Severe Biallelic Loss-of-function Mutations in Nicotinamide Mononucleotide Adenylyltransferase 2 (NMNAT2) in Two Fetuses with Fetal Akinesia Deformation Sequence

The paper identifies biallelic NMNAT2 mutations in two fetuses with FADS, showing their role in axon survival and linking them to Wallerian degeneration.

Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia

The paper identifies a homozygous NMNAT2 mutation causing polyneuropathy and erythromelalgia in two sisters, linking it to axon degeneration and supporting the role of the Wallerian pathway in human disease.