P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9

12Citations
Citations of this article
20Readers
Mendeley users who have this article in their library.

This article is free to access.

Abstract

In 2015–2016, we and others reported ALDH18A1 mutations causing dominant (SPG9A) or recessive (SPG9B) spastic paraplegia. In vitro production of the ALDH18A1 product, Δ1-pyrroline-5-carboxylate synthetase (P5CS), appeared necessary for cracking SPG9 disease-causing mechanisms. We now describe a baculovirus–insect cell system that yields mgs of pure human P5CS and that has proven highly valuable with two novel P5CS mutations reported here in new SPG9B patients. We conclude that both mutations are disease-causing, that SPG9B associates with partial P5CS deficiency and that it is clinically more severe than SPG9A, as reflected in onset age, disability, cognitive status, growth, and dysmorphic traits.

Cite

CITATION STYLE

APA

Magini, P., Marco-Marin, C., Escamilla-Honrubia, J. M., Martinelli, D., Dionisi-Vici, C., Faravelli, F., … Panza, E. (2019). P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9. Annals of Clinical and Translational Neurology, 6(8), 1533–1540. https://doi.org/10.1002/acn3.50821

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free