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Article

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

The Journal of biological chemistry - 1 Jan 2022

Kelly Carolyn M, Zeiger Peter J, Narayanan Vinodh, Ramsey Keri, Sondermann Holger

Abstract excerpt

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 tethering and fusion to promote the formation of a highly branched, smooth endoplasmic reticulum (ER), account for...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34808209
DOI: 10.1016/j.jbc.2021.101438
PMCID: PMC8688574

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