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A single amino acid residue regulates PTEN-binding and stability of the Spinal Muscular Atrophy protein SMN (2020)
Journal Article
Rademacher, S., Detering, N. . T., Schüning, T., Lindner, R., Santonicola, P., Wefel, I., …Claus, P. (2020). A single amino acid residue regulates PTEN-binding and stability of the Spinal Muscular Atrophy protein SMN. Cells, 9(11), Article 2405. https://doi.org/10.3390/cells9112405

Spinal Muscular Atrophy (SMA) is a neuromuscular disease caused by decreased levels of the survival of motoneuron (SMN) protein. Post-translational mechanisms for regulation of its stability are still elusive. Thus, we aimed to identify regulatory ph... Read More about A single amino acid residue regulates PTEN-binding and stability of the Spinal Muscular Atrophy protein SMN.

Recent Advances and Future Perspectives in the Development of Therapeutic Approaches for Neurodegenerative Diseases (2020)
Journal Article
Bowerman, M. (2020). Recent Advances and Future Perspectives in the Development of Therapeutic Approaches for Neurodegenerative Diseases. Brain Sciences, 10(9), Article 633. https://doi.org/10.3390/brainsci10090633

Note: In lieu of an abstract, this is an excerpt from the first page. Neurodegenerative diseases such as Alzheimer’s disease (AD), Parkinson’s disease (PD) and Huntington’s disease (HD), severely impact the function of neuronal cells in the brain... Read More about Recent Advances and Future Perspectives in the Development of Therapeutic Approaches for Neurodegenerative Diseases.

Muscle overexpression of Klf15 via an AAV8-Spc5-12 construct does not provide benefits in spinal muscular atrophy mice (2020)
Journal Article
Bowerman, Ahlskog, N., Hayler, D., Krueger, A., Kubinski, S., Claus, P., …Bowerman, M. (2020). Muscle overexpression of Klf15 via an AAV8-Spc5-12 construct does not provide benefits in spinal muscular atrophy mice. Gene Therapy, 27, 505–515. https://doi.org/10.1038/s41434-020-0146-8

Spinal muscular atrophy (SMA) is a neuromuscular disease caused by loss of the survival motor neuron (SMN) gene. While there are currently two approved gene-based therapies for SMA, availability, high cost, and differences in patient response indicat... Read More about Muscle overexpression of Klf15 via an AAV8-Spc5-12 construct does not provide benefits in spinal muscular atrophy mice.

Expression of ALS-linked SOD1 mutation in motoneurons or myotubes induces differential effects on neuromuscular function in vitro (2020)
Journal Article
Benlefki, S., Sanchez-Vicente, A., Milla, V., Lucas, O., Soulard, C., Younes, R., …Hilaire, C. (2020). Expression of ALS-linked SOD1 mutation in motoneurons or myotubes induces differential effects on neuromuscular function in vitro. Neuroscience, 435, 33-43. https://doi.org/10.1016/j.neuroscience.2020.03.044

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that selectively affects upper and lower motoneurons. Dismantlement of the neuromuscular junction (NMJ) is an early pathological hallmark of the disease whose cellular origin re... Read More about Expression of ALS-linked SOD1 mutation in motoneurons or myotubes induces differential effects on neuromuscular function in vitro.

Teaching an old drug new tricks: repositioning strategies for spinal muscular atrophy (2019)
Journal Article
Bowerman. (2019). Teaching an old drug new tricks: repositioning strategies for spinal muscular atrophy. Future Neurology, 14(3), https://doi.org/10.2217/fnl-2019-0006

Spinal muscular atrophy (SMA) is a childhood disorder caused by loss of the survival motor neuron (SMN) gene. Pathological hallmarks are spinal cord motor neuron death, neuromuscular junction dysfunction and muscle atrophy. The first SMN genetic ther... Read More about Teaching an old drug new tricks: repositioning strategies for spinal muscular atrophy.

Abnormal fatty acid metabolism is a core component of spinal muscular atrophy (2019)
Journal Article
Kothary, R., Deguise, M., Baranello, G., Mastella, C., Beauvais, A., Michaud, J., …Bowerman, M. (2019). Abnormal fatty acid metabolism is a core component of spinal muscular atrophy. Annals of Clinical and Translational Neurology, 1519-1532. https://doi.org/10.1002/acn3.50855

Objective: Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder leading to paralysis and subsequent death in young children. Initially considered a motor neuron disease, extra-neuronal involvement is increasingly recognized. The prim... Read More about Abnormal fatty acid metabolism is a core component of spinal muscular atrophy.

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.

Therapeutic strategies for spinal muscular atrophy: SMN and beyond. (2017)
Journal Article
Ning, K., Wood, M., Bowerman, M., Becker, C., Yáñez-Muñoz, R., Gillingwater, T., …SMA Research Consortium, U. (2017). Therapeutic strategies for spinal muscular atrophy: SMN and beyond. Disease Models and Mechanisms, 943 - 954. https://doi.org/10.1242/dmm.030148

Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder characterized by loss of motor neurons and muscle atrophy, generally presenting in childhood. SMA is caused by low levels of the survival motor neuron protein (SMN) due to inactiva... Read More about Therapeutic strategies for spinal muscular atrophy: SMN and beyond..

KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects. (2017)
Journal Article
Bowerman, M., Salsac, C., Bernard, V., Soulard, C., Dionne, A., Coque, E., …Scamps, F. (2017). KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects. Neurobiology of Disease, 106, 35 - 48. https://doi.org/10.1016/j.nbd.2017.06.013

Loss-of-function mutations in the potassium-chloride cotransporter KCC3 lead to Andermann syndrome, a severe sensorimotor neuropathy characterized by areflexia, amyotrophy and locomotor abnormalities. The molecular events responsible for axonal loss... Read More about KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects..

Spinal muscular atrophy: antisense oligonucleotide therapy opens the door to an integrated therapeutic landscape. (2017)
Journal Article
Wood, M., Talbot, K., & Bowerman, M. (2017). Spinal muscular atrophy: antisense oligonucleotide therapy opens the door to an integrated therapeutic landscape. Human molecular genetics, 26(R2), R151 - R159. https://doi.org/10.1093/hmg/ddx215

Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder characterized by loss of spinal cord motor neurons, muscle atrophy and infantile death or severe disability. It is caused by severe reduction of the ubiquitously expressed survival... Read More about Spinal muscular atrophy: antisense oligonucleotide therapy opens the door to an integrated therapeutic landscape..

Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy. (2016)
Journal Article
Hammond, S., Hazell, G., Shabanpoor, F., Saleh, A., Bowerman, M., Sleigh, J., …Wood, M. (2016). Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy. Proceedings of the National Academy of Sciences of the United States of America, 113(39), 10962 - 10967. https://doi.org/10.1073/pnas.1605731113

The development of antisense oligonucleotide therapy is an important advance in the identification of corrective therapy for neuromuscular diseases, such as spinal muscular atrophy (SMA). Because of difficulties of delivering single-stranded oligonuc... Read More about Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy..

Nerve injury induces a Gem-GTPase-dependent downregulation of P/Q-type Ca2+ channels contributing to neurite plasticity in dorsal root ganglion neurons (2014)
Journal Article
Scamps, F., Sangari, S., Bowerman, M., Rousset, M., Bellis, M., Cens, T., & Charnet, P. (2015). Nerve injury induces a Gem-GTPase-dependent downregulation of P/Q-type Ca2+ channels contributing to neurite plasticity in dorsal root ganglion neurons. Pflügers Archiv European Journal of Physiology, 467(2), 351-366. https://doi.org/10.1007/s00424-014-1520-4