Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC

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• 作者：Angè ; le Tingaud-Sequeira^a ; Demetrio Raldú ; a^b ; Julie Lavie^a ; Guilaine Mathieu^a ; Magali Bordier^a ; ^c ; Anja Knoll-Gellida^a ; Pierre Rambeau^a ; Isabelle Coupry^a ; Michè ; le André ; ^a ; Eva Malm^d ; Claes Mö ; ller^e ; Sten Andreasson^d ; Nanna D. Rendtorff^f ; Lisbeth Tranebjæ ; rg^f ; Michel Koenig^g ; Didier Lacombe^a ; ^c ; Cyril Goizet^a ; ^c ; Patrick J. Babin^a ; ^{p.babin@gpp.u-bordeaux1.fr}
• 关键词：2-AG ; 2-arachidonoylglycerol ; Ac-Tuba ; acetylated α-tubulin ; ARCA ; autosomal recessive cerebellar ataxias ; arRP ; autosomal recessive retinitis pigmentosa ; ABHD6 ; abhydrolase domain containing protein 6 ; ABHD12 ; abhydrolase domain containing protein 12 gene ; CNS ; central nervous system ; dpf ; days post-fertilization ; hpf ; hours post-fertilization ; LPS ; lysophosphatidylserine ; mAb ; monoclonal antibody ; MAGL ; monoacylglycerol lipase ; MBP ; myelin basic protein ; MO ; morpholino oligonucleotide ; MPZ ; my
• 刊名：Neurobiology of Disease
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：98
• 期：Complete
• 页码：36-51
• 全文大小：2353 K
• 卷排序：98

文摘

ABHD12 mutations were correlated with a spectrum of phenotypes including PHARC PHARC represents a complex form of autosomal recessive cerebellar ataxias ABHD12 missense mutation p.T253R was discovered. Cell and zebrafish models for genotype-phenotype correlation testing were proposed. This may offer investigation of genetic modifiers and treatment hypotheses