James N Sleigh
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Explore the profile of James N Sleigh including associated specialties, affiliations and a list of published articles.
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56
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1409
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Recent Articles
1.
Cortese A, Dohrn M, Curro R, Negri S, Lassuthova P, Pisciotta C, et al.
Brain
. 2025 Feb;
PMID: 39938083
Biallelic loss-of-function mutations in the sorbitol dehydrogenase (SORD) gene cause the most common recessive type of Charcot-Marie-Tooth disease (CMT), CMT-SORD. However, the full genotype-phenotype spectrum and progression of the disease...
2.
3.
Tosolini A, Abatecola F, Negro S, Sleigh J, Schiavo G
iScience
. 2024 Nov;
27(11):111158.
PMID: 39524336
Efficient long-range axonal transport is essential for maintaining neuronal function, and perturbations in this process underlie severe neurological diseases. Nodes of Ranvier (NoR) are short, specialized unmyelinated axonal domains with...
4.
Surana S, Villarroel-Campos D, Rhymes E, Kalyukina M, Panzi C, Novoselov S, et al.
EMBO J
. 2024 Jul;
43(16):3358-3387.
PMID: 38977849
Tetanus neurotoxin (TeNT) causes spastic paralysis by inhibiting neurotransmission in spinal inhibitory interneurons. TeNT binds to the neuromuscular junction, leading to its internalisation into motor neurons and subsequent transcytosis into...
5.
Sleigh J, Mattedi F, Richter S, Annuario E, Ng K, Steinmark I, et al.
Aging Cell
. 2024 Jun;
23(10):e14250.
PMID: 38881280
Mitochondria are dynamic bioenergetic hubs that become compromised with age. In neurons, declining mitochondrial axonal transport has been associated with reduced cellular health. However, it is still unclear to what...
6.
Rhymes E, Simkin R, Qu J, Villarroel-Campos D, Surana S, Tong Y, et al.
Neurobiol Dis
. 2024 Apr;
195:106501.
PMID: 38583640
Charcot-Marie-Tooth disease (CMT) is a genetic peripheral neuropathy caused by mutations in many functionally diverse genes. The aminoacyl-tRNA synthetase (ARS) enzymes, which transfer amino acids to partner tRNAs for protein...
7.
Rhymes E, Simkin R, Qu J, Villarroel-Campos D, Surana S, Tong Y, et al.
bioRxiv
. 2024 Apr;
PMID: 38559020
Charcot-Marie-Tooth disease (CMT) is a genetic peripheral neuropathy caused by mutations in many functionally diverse genes. The aminoacyl-tRNA synthetase (ARS) enzymes, which transfer amino acids to partner tRNAs for protein...
8.
Villarroel-Campos D, Sleigh J
Neural Regen Res
. 2023 Dec;
19(8):1653-1654.
PMID: 38103226
No abstract available.
9.
Pocratsky A, Sleigh J
Bio Protoc
. 2023 Sep;
13(18):e4826.
PMID: 37753468
Administration of substances into neonatal mice is required for early treatment with pre-clinical therapeutics, delivery of recombination-inducing substances, and dosing with viruses or toxins, amongst other things. Several injection routes...
10.
Sleigh J, Villarroel-Campos D, Surana S, Wickenden T, Tong Y, Simkin R, et al.
JCI Insight
. 2023 Mar;
8(9).
PMID: 36928301
Gain-of-function mutations in the housekeeping gene GARS1, which lead to the expression of toxic versions of glycyl-tRNA synthetase (GlyRS), cause the selective motor and sensory pathology characterizing Charcot-Marie-Tooth disease (CMT)....