CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.

doi:10.1002/humu.23359

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Article

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.

Human mutation - 1 Jan 2018

Durand Christelle M, Dhers Laura, Tesson Christelle, Tessa Alessandra, Fouillen Laetitia, Jacqueré Stéphanie, Raymond Laure, Coupry Isabelle, Benard Giovanni, Darios Frédéric, El-Hachimi Khalid H, Astrea Guja, Rivier François, Banneau Guillaume, Pujol Claire, Lacombe Didier, Durr Alexandra, Babin Patrick J, Santorelli Filippo M, Pietrancosta Nicolas, Boucher Jean-Luc, Mansuy Daniel, Stevanin Giovanni, Goizet Cyril

Abstract excerpt

Hereditary spastic paraplegia (HSP) is an inherited disorder of the central nervous system mainly characterized by gradual spasticity and weakness of the lower limbs. SPG56 is a rare autosomal recessive early onset complicated form of HSP caused by mutations in CYP2U1. The CYP2U1 enzyme was shown to catalyze the hydroxylation of arachidonic acid. Here, we report two further SPG56 families carrying three novel...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 29034544
DOI: 10.1002/humu.23359

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