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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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
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