Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC

Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC

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 pat...

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Bibliographic Details
Main Authors: Angèle Tingaud-Sequeira, Demetrio Raldúa, Julie Lavie, Guilaine Mathieu, Magali Bordier, Anja Knoll-Gellida, Pierre Rambeau, Isabelle Coupry, Michèle André, Eva Malm, Claes Möller, Sten Andreasson, Nanna D. Rendtorff, Lisbeth Tranebjærg, Michel Koenig, Didier Lacombe, Cyril Goizet, Patrick J. Babin
Format: Article
Language:English
Published: Elsevier 2017-02-01
Series:Neurobiology of Disease
Subjects:
Neurodegenerative disease
PHARC
ABHD12
Mutations
Cell and zebrafish models
Demyelinating polyneuropathy
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996116302674

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http://www.sciencedirect.com/science/article/pii/S0969996116302674

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