All Outputs (4)

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.-M., Dehus, J., Walter, L. M., Brinkmann, H., Niewienda, A., Janek, K., Varela, M. A., Bowerman, M., Di Schiavi, E., & 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., M. Hammond, S., J. A. Wood, M., J. Yáñez-Muñoz, R., & 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., Gergely, C., Bowerman, M., Raoul, C., Scamps, F., & 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.