James N Sleigh

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Conserved Genes Act as Modifiers of Invertebrate SMN Loss of Function Defects

Maria Dimitriadi, James N Sleigh, +11 authors Anne C Hart
PLoS genetics
2010

Spinal Muscular Atrophy (SMA) is caused by diminished function of the Survival of Motor Neuron (SMN) protein, but the molecular pathways critical for SMA pathology remain elusive. We have used… (More)

Neuromuscular junction maturation defects precede impaired lower motor neuron connectivity in Charcot-Marie-Tooth type 2D mice.

James N Sleigh, Stuart J Grice, Robert W Burgess, Kevin Talbot, Muhammed Z Cader
Human molecular genetics
2014

Dominant mutations in GARS, encoding the essential enzyme glycyl-tRNA synthetase (GlyRS), result in a form of Charcot-Marie-Tooth disease, type 2D (CMT2D), predominantly characterized by lower motor… (More)

Vascular Defects and Spinal Cord Hypoxia in Spinal Muscular Atrophy.

Eilidh Somers, Robert D Lees, +6 authors Simon H Parson
Annals of neurology
2016

OBJECTIVE Spinal muscular atrophy (SMA) is a major inherited cause of infant death worldwide. It results from mutations in a single, ubiquitously expressed gene (SMN1), with loss of lower motor… (More)

Chondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophy.

James N Sleigh, Antón Barreiro-Iglesias, +5 authors Kevin Talbot
Human molecular genetics
2014

Spinal muscular atrophy (SMA) is characterized by the selective loss of spinal motor neurons owing to reduced levels of survival motor neuron (Smn) protein. In addition to its well-established role… (More)

Trk receptor signaling and sensory neuron fate are perturbed in human neuropathy caused by Gars mutations.

James N Sleigh, John M. Dawes, +10 authors Giampietro Schiavo
Proceedings of the National Academy of Sciences…
2017

Charcot-Marie-Tooth disease type 2D (CMT2D) is a peripheral nerve disorder caused by dominant, toxic, gain-of-function mutations in the widely expressed, housekeeping gene, GARS The mechanisms… (More)

Overexpression of survival motor neuron improves neuromuscular function and motor neuron survival in mutant SOD1 mice

Bradley J. Turner, Neza Alfazema, +4 authors Kevin Talbot
Neurobiology of Aging
2014

Spinal muscular atrophy results from diminished levels of survival motor neuron (SMN) protein in spinal motor neurons. Low levels of SMN also occur in models of amyotrophic lateral sclerosis (ALS)… (More)

A novel Caenorhabditis elegans allele, smn-1(cb131), mimicking a mild form of spinal muscular atrophy, provides a convenient drug screening platform highlighting new and pre-approved compounds.

James N Sleigh, Steven Buckingham, +4 authors David B Sattelle
Human molecular genetics
2011

Spinal muscular atrophy (SMA), an autosomal recessive genetic disorder, is characterized by the selective degeneration of lower motor neurons, leading to muscle atrophy and, in the most severe cases,… (More)

A simple, step-by-step dissection protocol for the rapid isolation of mouse dorsal root ganglia

James N Sleigh, Greg A. Weir, Giampietro Schiavo
BMC Research Notes
2016

The cell bodies of sensory neurons, which transmit information from the external environment to the spinal cord, can be found at all levels of the spinal column in paired structures called dorsal… (More)

Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth disease

Laurent P. Bogdanik, James N Sleigh, +4 authors Robert W Burgess
Disease models & mechanisms
2013

Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous condition characterized by peripheral axon degeneration with subsequent motor and sensory deficits. Several CMT gene… (More)

Synaptic Deficits at Neuromuscular Junctions in Two Mouse Models of Charcot-Marie-Tooth Type 2d.

Emily L. Spaulding, James N Sleigh, Kathryn H. Morelli, Martin J. Pinter, Robert W Burgess, Kevin L Seburn
The Journal of neuroscience : the official…
2016

UNLABELLED Patients with Charcot-Marie-Tooth Type 2D (CMT2D), caused by dominant mutations in Glycl tRNA synthetase (GARS), present with progressive weakness, consistently in the hands, but often in… (More)

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