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Store-operated calcium entry is reduced in spastin-linked hereditary spastic paraplegia
Pathogenic variants in SPAST, the gene coding for spastin, are the single most common cause of hereditary spastic paraplegia, a progressive motor neuron disease. Spastin regulates key cellular functions, including microtubule-severing and endoplasmic reticulum-morphogenesis. However, it remains uncl...
Autores principales: | Rizo, Tania, Gebhardt, Lisa, Riedlberger, Julia, Eberhardt, Esther, Fester, Lars, Alansary, Dalia, Winkler, Jürgen, Turan, Soeren, Arnold, Philipp, Niemeyer, Barbara A, Fischer, Michael J M, Winner, Beate |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9473359/ https://www.ncbi.nlm.nih.gov/pubmed/36103408 http://dx.doi.org/10.1093/brain/awac122 |
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