Article
Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC.
Neurobiology of disease - 1 Feb 2017
Tingaud-Sequeira Angèle, Raldúa Demetrio, Lavie Julie, Mathieu Guilaine, Bordier Magali, Knoll-Gellida Anja, Rambeau Pierre, Coupry Isabelle, André Michèle, Malm Eva, Möller Claes, Andreasson Sten, Rendtorff Nanna D, Tranebjærg Lisbeth, Koenig Michel, Lacombe Didier, Goizet Cyril, Babin Patrick J
Abstract excerpt
ABHD12 mutations have been linked to neurodegenerative PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract), a rare, progressive, autosomal, recessive disease. Although ABHD12 is suspected to play a role in the lysophosphatidylserine and/or endocannabinoid pathways, its precise functional role(s) leading to PHARC disease had not previously been characterized. Cell and...
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