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

@article{Magini2019P5CSES,
  title={P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9},
  author={Pamela Magini and Clara Marco-Mar{\'i}n and Juan M Escamilla-Honrubia and Diego Martinelli and Carlo Dionisi-Vici and Francesca Faravelli and Francesca Forzano and Marco Seri and Vicente Rubio and Emanuele Panza},
  journal={Annals of Clinical and Translational Neurology},
  year={2019},
  volume={6},
  pages={1533 - 1540}
}
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… 
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TLDR
Results suggest that the pathway involving the enzyme encoded by ALDH18A1 (Δ1-pyrroline-5-carboxylate synthase, P5CS) is deficient, and it is shown that the enzymatic activity linked to one of the dominant mutations is deficient.
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