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

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

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 descri...

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Bibliographic Details
Main Authors: Pamela Magini, Clara Marco‐Marin, Juan M. Escamilla‐Honrubia, Diego Martinelli, Carlo Dionisi-Vici, Francesca Faravelli, Francesca Forzano, Marco Seri, Vicente Rubio, Emanuele Panza
Format: Article
Language:English
Published: Wiley 2019-08-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.50821

Internet

https://doi.org/10.1002/acn3.50821

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