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

In 2015–2016, we and others reported ALDH18A1 mutations causing dominant (SPG9A) or recessive (SPG9B) spastic paraplegia. In vitro production of the ALDH18A1 product, Δ(1)‐pyrroline‐5‐carboxylate synthetase (P5CS), appeared necessary for cracking SPG9 disease‐causing mechanisms. We now describe a ba...

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Detalles Bibliográficos
Autores principales:	Magini, Pamela, Marco‐Marin, Clara, Escamilla‐Honrubia, Juan M., Martinelli, Diego, Dionisi-Vici, Carlo, Faravelli, Francesca, Forzano, Francesca, Seri, Marco, Rubio, Vicente, Panza, Emanuele
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Brief Communications
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6689680/ https://www.ncbi.nlm.nih.gov/pubmed/31402623 http://dx.doi.org/10.1002/acn3.50821

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