A novel insertion mutation in atlastin 1 is associated with spastic quadriplegia, increased membrane tethering, and aberrant conformational switching

Hereditary spastic paraplegia (HSP) comprises a heterogeneous group of neuropathies affecting upper motor neurons and causing progressive gait disorder. Mutations in the gene SPG3A/atlastin-1 (ATL1), encoding a dynamin superfamily member, which utilizes the energy from GTP hydrolysis for membrane te...

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Detalles Bibliográficos
Autores principales: Kelly, Carolyn M., Zeiger, Peter J., Narayanan, Vinodh, Ramsey, Keri, Sondermann, Holger
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8688574/
https://www.ncbi.nlm.nih.gov/pubmed/34808209
http://dx.doi.org/10.1016/j.jbc.2021.101438

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