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ABHD12 encodes an enzyme that catalyzes the hydrolysis of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors, CB1 and CB2. De plus, nous expédions ABHD12 Anticorps (55) et ABHD12 Protéines (8) et beaucoup plus de produits pour cette protéine.
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In mouse macrophages, disruption of ABHD12 and ABHD16A (Montrer ABHD16A Kits ELISA) respectively increases and decreases both lysophosphatidylserines and lipopolysaccharide-induced cytokine production.
FAAH (Montrer FAAH Kits ELISA) but not monoacyl glycerol lipase (Montrer LIPG Kits ELISA) exerts important protective actions against 2-arachidonoyl glycerol-induced cellular damage.
provide a molecular model for PHARC, where disruption of ABHD12 causes deregulated LPS (Montrer TLR4 Kits ELISA) metabolism and the accumulation of proinflammatory lipids that promote microglial and neurobehavioral abnormalities
Mutations in the ABHD12 gene cause polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract disease.
Data reveal that 85% of brain 2 (Montrer POU3F2 Kits ELISA)-arachidonoylglycerol hydrolase (Montrer ABHD6 Kits ELISA) activity can be ascribed to monoacylglycerol lipase(MAGL (Montrer MGLL Kits ELISA)), and the remaining 15% is catalyzed by ABHD6 (Montrer ABHD6 Kits ELISA) and ABHD12.
ABHD12 mutation in 2 PHARC (Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract)patients who suffered from deaf-blindness and dysfunctional central and peripheral nervous systems.
Null mutations in the ABHD12 gene lead to PHARC syndrome, a neurodegenerative disease including polyneuropathy, hearing loss, cerebellar ataxia, RP, and early-onset cataract. Our study allowed us to report 5 new mutations in ABHD12.
This is the first report of compound heterozygosity in PHARC and the first study to describe how a mutation might affect ABHD12 expression and function.
ABHD12 mutations are not a frequent cause of ataxia at least in Southern Italy
After the identification of the ABHD12 mutation in this family, one patient underwent neurological examination which revealed ataxia, but no polyneuropathy
Data show that the three hydrolases are genuine MAG (Montrer MAG Kits ELISA) lipases; medium-chain saturated MAGs were the best substrates for hABHD6 and hMAGL, whereas hABHD12 preferred the 1 (3)- and 2-isomers of arachidonoylglycerol.
This gene encodes an enzyme that catalyzes the hydrolysis of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors, CB1 and CB2. The endocannabinoid system is involved in a wide range of physiological processes, including neurotransmission, mood, appetite, pain appreciation, addiction behavior, and inflammation. Mutations in this gene are associated with the neurodegenerative disease, PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract), resulting from an inborn error of endocannabinoid metabolism. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.
abhydrolase domain containing 12
, monoacylglycerol lipase ABHD12-like
, 2-arachidonoylglycerol hydrolase
, abhydrolase domain-containing protein 12
, monoacylglycerol lipase ABHD12