| First Author | Lopez-Ortega E | Year | 2017 |
| Journal | Front Neurosci | Volume | 11 |
| Pages | 39 | PubMed ID | 28239331 |
| Mgi Jnum | J:310239 | Mgi Id | MGI:6761931 |
| Doi | 10.3389/fnins.2017.00039 | Citation | Lopez-Ortega E, et al. (2017) CSPalpha, a Molecular Co-chaperone Essential for Short and Long-Term Synaptic Maintenance. Front Neurosci 11:39 |
| abstractText | Cysteine string protein alpha (CSPalpha) is a vesicle protein located in the presynaptic terminal of most synapses. CSPalpha is an essential molecular co-chaperone that facilitates the correct folding of proteins and the assembly of the exocytic machinery. The absence of this protein leads to altered neurotransmitter release and neurodegeneration in multiple model systems, from flies to mice. In humans, CSPalpha mutations are associated with the development of neuronal ceroid lipofuscinosis (NCL), a neurodegenerative disease characterized by intracellular accumulation of lysosomal material. Here, we review the physiological role of CSPalpha and the pathology resulting from the homozygous deletion of the gene or its mutations. In addition, we investigate whether long-term moderate reduction of the protein produces motor dysfunction. We found that 1-year-old CSPalpha heterozygous mice display a reduced ability to sustain motor unit recruitment during repetitive stimulation, which indicates that physiological levels of CSPalpha are required for normal neuromuscular responses in mice and, likely, in humans. |
