Interventions Targeting Glucocorticoid-Krüppel-like Factor 15-Branched-Chain Amino Acid Signaling Improve Disease Phenotypes in Spinal Muscular Atrophy Mice

Walter, Lisa M.; Deguise, Marc-Olivier; Meijboom, Katharina E.; Betts, Corinne A.; Ahlskog, Nina; van Westering, Tirsa L.E.; Hazell, Gareth; McFall, Emily; Kordala, Anna; Hammond, Suzan M.; Abendroth, Frank; Murray, Lyndsay M.; Shorrock, Hannah K.; Prosdocimo, Domenick A.; Haldar, Saptarsi M.; Jain, Mukesh K.; Gillingwater, Thomas H.; Claus, Peter; Kothary, Rashmi; Wood, Matthew J.A.; Bowerman, Melissa

doi:10.1016/j.ebiom.2018.04.024

All Outputs (4)

Multi-Study Proteomic and Bioinformatic Identification of Molecular Overlap between Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA) (2018)
Journal Article
Šoltić, D., Bowerman, M., Stock, J., Shorrock, H. K., Gillingwater, T. H., & Fuller, H. R. (2018). Multi-Study Proteomic and Bioinformatic Identification of Molecular Overlap between Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA). Brain Sciences, https://doi.org/10.3390/brainsci8120212

Unravelling the complex molecular pathways responsible for motor neuron degeneration in amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) remains a persistent challenge. Interest is growing in the potential molecular similarities... Read More about Multi-Study Proteomic and Bioinformatic Identification of Molecular Overlap between Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA).

Pathogenic commonalities between spinal muscular atrophy and amyotrophic lateral sclerosis: converging roads to therapeutic development (2018)
Journal Article
Bowerman, M., Murray, L., Scamps, F., Schneider, B., Kothary, R., & Raoul, C. (2018). Pathogenic commonalities between spinal muscular atrophy and amyotrophic lateral sclerosis: converging roads to therapeutic development. European Journal of Medical Genetics, 685-698. https://doi.org/10.1016/j.ejmg.2017.12.001

Spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS) are the two most common motoneuron disorders, which share typical pathological hallmarks while remaining genetically distinct. Indeed, SMA is caused by deletions or mutations in th... Read More about Pathogenic commonalities between spinal muscular atrophy and amyotrophic lateral sclerosis: converging roads to therapeutic development.

Light modulation ameliorates expression of circadian genes and disease progression in spinal muscular atrophy mice (2018)
Journal Article
Walter, L. M., Koch, C. E., Betts, C. A., Ahlskog, N., Meijboom, K. E., van Westering, T. L. E., …Bowerman, M. (2018). Light modulation ameliorates expression of circadian genes and disease progression in spinal muscular atrophy mice. Human molecular genetics, 27(20), 3582-3597. https://doi.org/10.1093/hmg/ddy249

Physiology and behaviour are critically dependent on circadian regulation via a core set of clock genes, dysregulation of which leads to metabolic and sleep disturbances. Metabolic and sleep perturbations occur in spinal muscular atrophy (SMA), a neu... Read More about Light modulation ameliorates expression of circadian genes and disease progression in spinal muscular atrophy mice.

Interventions Targeting Glucocorticoid-Krüppel-like Factor 15-Branched-Chain Amino Acid Signaling Improve Disease Phenotypes in Spinal Muscular Atrophy Mice (2018)
Journal Article
Walter, L. M., Deguise, M., Meijboom, K. E., Betts, C. A., Ahlskog, N., van Westering, T. L., …Bowerman, M. (2018). Interventions Targeting Glucocorticoid-Krüppel-like Factor 15-Branched-Chain Amino Acid Signaling Improve Disease Phenotypes in Spinal Muscular Atrophy Mice. EBioMedicine, 226-242. https://doi.org/10.1016/j.ebiom.2018.04.024

The circadian glucocorticoid-Krüppel-like factor 15-branched-chain amino acid (GC-KLF15-BCAA) signaling pathway is a key regulatory axis in muscle, whose imbalance has wide-reaching effects on metabolic homeostasis. Spinal muscular atrophy (SMA) is a... Read More about Interventions Targeting Glucocorticoid-Krüppel-like Factor 15-Branched-Chain Amino Acid Signaling Improve Disease Phenotypes in Spinal Muscular Atrophy Mice.