Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.
about
Biochemical and pharmacological characterization of human α/β-hydrolase domain containing 6 (ABHD6) and 12 (ABHD12)The serine hydrolases MAGL, ABHD6 and ABHD12 as guardians of 2-arachidonoylglycerol signalling through cannabinoid receptorsControl of synaptic function by endocannabinoid-mediated retrograde signalingParsing the players: 2-arachidonoylglycerol synthesis and degradation in the CNSChemical probes of endocannabinoid metabolismThe serine hydrolase ABHD6 Is a critical regulator of the metabolic syndromeABHD12 controls brain lysophosphatidylserine pathways that are deregulated in a murine model of the neurodegenerative disease PHARCDiscovery of triterpenoids as reversible inhibitors of α/β-hydrolase domain containing 12 (ABHD12)Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.In vivo metabolite profiling as a means to identify uncharacterized lipase function: recent success stories within the alpha beta hydrolase domain (ABHD) enzyme family.Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.Metabolism of endocannabinoids and related N-acylethanolamines: canonical and alternative pathways.Intrinsic up-regulation of 2-AG favors an area specific neuronal survival in different in vitro models of neuronal damage.Monoglyceride lipase deficiency in mice impairs lipolysis and attenuates diet-induced insulin resistance.Immunomodulatory lysophosphatidylserines are regulated by ABHD16A and ABHD12 interplay.The metabolic serine hydrolases and their functions in mammalian physiology and disease.COX-2 and fatty acid amide hydrolase can regulate the time course of depolarization-induced suppression of excitation.Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.Optimization of 1,2,5-thiadiazole carbamates as potent and selective ABHD6 inhibitors.Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyEvidence for bidirectional endocannabinoid transport across cell membranesEndocannabinoids via CB₁ receptors act as neurogenic niche cues during cortical development.Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3The CB(1) cannabinoid receptor drives corticospinal motor neuron differentiation through the Ctip2/Satb2 transcriptional regulation axisA chemical proteomic atlas of brain serine hydrolases identifies cell type-specific pathways regulating neuroinflammation.Highly predictive ligand-based pharmacophore and homology models of ABHD6.Mammalian alpha beta hydrolase domain (ABHD) proteins: Lipid metabolizing enzymes at the interface of cell signaling and energy metabolism.Programming of neural cells by (endo)cannabinoids: from physiological rules to emerging therapies.Harnessing the Endocannabinoid 2-Arachidonoylglycerol to Lower Intraocular Pressure in a Murine ModelTwo novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects.The Ratio of 2-AG to Its Isomer 1-AG as an Intrinsic Fine Tuning Mechanism of CB1 Receptor Activation.Systematic review of autosomal recessive ataxias and proposal for a classification.The endocannabinoid system in critical neurodevelopmental periods: sex differences and neuropsychiatric implications.Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.Dynamic changes to the endocannabinoid system in models of chronic pain.Hereditary ataxias: overview.PUFA-derived endocannabinoids: an overview.Endocannabinoids, related compounds and their metabolic routes.The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies.
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P2860
Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.
description
2010 nî lūn-bûn
@nan
2010 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Mutations in ABHD12 cause the ...... of endocannabinoid metabolism.
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Mutations in ABHD12 cause the ...... of endocannabinoid metabolism.
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Mutations in ABHD12 cause the ...... of endocannabinoid metabolism.
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Mutations in ABHD12 cause the ...... of endocannabinoid metabolism.
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Mutations in ABHD12 cause the ...... of endocannabinoid metabolism.
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Mutations in ABHD12 cause the ...... of endocannabinoid metabolism.
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prefLabel
Mutations in ABHD12 cause the ...... of endocannabinoid metabolism.
@ast
Mutations in ABHD12 cause the ...... of endocannabinoid metabolism.
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Mutations in ABHD12 cause the ...... of endocannabinoid metabolism.
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P2093
P2860
P50
P1476
Mutations in ABHD12 cause the ...... of endocannabinoid metabolism.
@en
P2093
Abdelmadjid Hamri
Abderrahim M'zahem
Andrew J Cole
Cecilie Bredrup
Christian Vedeler
Dorra H'mida-Ben Brahim
Helge Boman
Meriem Tazir
Michel Koenig
Mirna Assoum
P2860
P304
P356
10.1016/J.AJHG.2010.08.002
P407
P577
2010-09-01T00:00:00Z