Редактирование: SPG21 (раздел)

==Publications==

{{medline-entry
|title=Loss of Maspardin Attenuates the Growth and Maturation of Mouse Cortical Neurons.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/26978163
|abstract=Mast syndrome, an autosomal recessive, progressive form of hereditary spastic paraplegia, is associated with mutations in [[SPG21]] loci that encode maspardin protein. Although [[SPG21]]-/- mice exhibit lower limb dysfunction, the role of maspardin loss in mast syndrome is unclear. To test the hypothesis that loss of maspardin attenuates the growth and maturation of cortical neurons in [[SPG21]]-/- mice. In a randomized experimental design [[SPG21]]-/- mice demonstrated significantly less agility and coordination compared to wild-type mice in beam walk, ledge, and hind limb clasp tests for assessing neuronal dysfunction (p ≤ 0.05). The [[SPG21]]-/- mice exhibited symptoms of mast syndrome at 6 months which worsened in 12-month-old cohort, suggesting progressive dysfunction of motor neurons. Ex vivo, wild-type cortical neurons formed synapses, ganglia and aggregates at 96 h, whereas [[SPG21]]-/- neurons exhibited attenuated growth with markedly less axonal branches. Additionally, epidermal growth factor markedly promoted the growth and maturation of [[SPG21]] /  cortical neurons but not [[SPG21]]-/- neurons. Consequently, quantitative RT-PCR identified a significant reduction in the expression of a subset of [[EGF]]-[[EGF]]R signaling targets. Our current study uncovered a direct role for maspardin in normal and [[EGF]]-induced growth and maturation of primary cortical neurons. The loss of maspardin resulted in attenuated growth, axonal branching, and attenuation of [[EGF]] signaling. Reinstating the functions of maspardin may reverse hind limb impairment associated with neuronal dysfunction in mast syndrome patients.
|mesh-terms=* Adaptor Proteins, Signal Transducing
* Aging
* Animals
* Cell Proliferation
* Cells, Cultured
* Cerebral Cortex
* Cohort Studies
* Dementia
* Disease Models, Animal
* Epidermal Growth Factor
* ErbB Receptors
* Mice, Knockout
* Motor Activity
* Neurons
* Random Allocation
* Spastic Paraplegia, Hereditary
* Synapses

|full-text-url=https://sci-hub.do/10.1159/000443666
}}