Homo sapiens (Human) abhydrolase domain-containing protein 12. Protein C20orf22, flj90542, CT022, 2-arachidonoylglycerol hydrolase, Monoacylglycerol lipase
This gene is mutated in Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) disease. is a neurodegenerative disease. Patients present early-onset cataract and hearing loss, retinitis pigmentosa. Both the central and peripheral nervous systems are affected. Other features are demyelinating sensorimotor polyneuropathy and cerebellar ataxia. Fiskerstrand et al. identified the disease in a norwegian family. Mutations in ABHD12 cause the PHARC. Polyneuropathy and ataxia can be mild and symptomes can be close to those of Usher syndrome type 3 as shown by Eisenberg et al. . ABHD12 is a major very long chain lyso-PS lipase in primary mast cells. long-chain lyso-PSs induce secretion of pro-inflammatory cytokines in macrophage signaling and mast cell degranulation (Khandelwal 2021)
MRKRTEPVAL EHERCAAAGS SSSGSAAAAL DADCRLKQNL RLTGPAAAEP RCAADAGMKR ALGRRKGVWL RLRKILFCVL GLYIAIPFLI KLCPGIQAKL IFLNFVRVPY FIDLKKPQDQ GLNHTCNYYL QPEEDVTIGV WHTVPAVWWK NAQGKDQMWY EDALASSHPI ILYLHGNAGT RGGDHRVELY KVLSSLGYHV VTFDYRGWGD SVGTPSERGM TYDALHVFDW IKARSGDNPV YIWGHSLGTG VATNLVRRLC ERETPPDALI LESPFTNIRE EAKSHPFSVI YRYFPGFDWF FLDPITSSGI KFANDENVKH ISCPLLILHA EDDPVVPFQL GRKLYSIAAP ARSFRDFKVQ FVPFHSDLGY RHKYICKSPE LPRILREFLG KSEPEHQH
| Title : Endocannabinoid 2-Arachidonoylglycerol Synthesis and Metabolism at Neuronal Nuclear Matrix Fractions Derived from Adult Rat Brain Cortex - Aretxabala_2023_Int.J.Mol.Sci_24_3165 |
| Author(s) : Aretxabala X , Garcia Del Cano G , Barrondo S , Lopez De Jesus M , Gonzalez-Burguera I , Saumell-Esnaola M , Goicolea MA , Salles J |
| Ref : Int J Mol Sci , 24 : , 2023 |
| Abstract : Aretxabala_2023_Int.J.Mol.Sci_24_3165 |
| ESTHER : Aretxabala_2023_Int.J.Mol.Sci_24_3165 |
| PubMedSearch : Aretxabala_2023_Int.J.Mol.Sci_24_3165 |
| PubMedID: 36834575 |
| Gene_locus related to this paper: human-ABHD12 , human-DAGLA , ratno-q5ylm1 , ratno-q6ayt7 |
| Title : Probing the Interactions of Thiazole Abietane Inhibitors with the Human Serine Hydrolases ABHD16A and ABHD12 - Ahonen_2023_ACS.Med.Chem.Lett_14_1404 |
| Author(s) : Ahonen TJ , Ng CP , Farinha B , Almeida B , Victor BL , Reynolds C , Kalso E , Yli-Kauhaluoma J , Greaves J , Moreira VM |
| Ref : ACS Med Chem Lett , 14 :1404 , 2023 |
| Abstract : Ahonen_2023_ACS.Med.Chem.Lett_14_1404 |
| ESTHER : Ahonen_2023_ACS.Med.Chem.Lett_14_1404 |
| PubMedSearch : Ahonen_2023_ACS.Med.Chem.Lett_14_1404 |
| PubMedID: 37849541 |
| Gene_locus related to this paper: human-ABHD12 , human-ABHD16A |
| Title : The loss of enzymatic activity of the PHARC associated lipase ABHD12 results in increased phagocytosis that causes neuroinflammation - Singh_2021_Eur.J.Neurosci__ |
| Author(s) : Singh S , Kamat SS |
| Ref : European Journal of Neuroscience , : , 2021 |
| Abstract : Singh_2021_Eur.J.Neurosci__ |
| ESTHER : Singh_2021_Eur.J.Neurosci__ |
| PubMedSearch : Singh_2021_Eur.J.Neurosci__ |
| PubMedID: 34727579 |
| Gene_locus related to this paper: human-ABHD12 , mouse-abd12 |
| Title : Fatty acid chain length drives lysophosphatidylserine-dependent immunological outputs - Khandelwal_2021_Cell.Chem.Biol__ |
| Author(s) : Khandelwal N , Shaikh M , Mhetre A , Singh S , Sajeevan T , Joshi A , Balaji KN , Chakrapani H , Kamat SS |
| Ref : Cell Chemical Biology , : , 2021 |
| Abstract : Khandelwal_2021_Cell.Chem.Biol__ |
| ESTHER : Khandelwal_2021_Cell.Chem.Biol__ |
| PubMedSearch : Khandelwal_2021_Cell.Chem.Biol__ |
| PubMedID: 33571455 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : ABHD12 and LPCAT3 Interplay Regulates a Lyso-phosphatidylserine-C20:4 Phosphatidylserine Lipid Network Implicated in Neurological Disease - Ichu_2020_Biochemistry_59_1793 |
| Author(s) : Ichu TA , Reed A , Ogasawara D , Ulanovskaya O , Roberts A , Aguirre CA , Bar-Peled L , Gao J , Germain J , Barbas S , Masuda K , Conti B , Tontonoz P , Cravatt BF |
| Ref : Biochemistry , 59 :1793 , 2020 |
| Abstract : Ichu_2020_Biochemistry_59_1793 |
| ESTHER : Ichu_2020_Biochemistry_59_1793 |
| PubMedSearch : Ichu_2020_Biochemistry_59_1793 |
| PubMedID: 32364701 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : Mapping the neuroanatomy of ABHD16A-ABHD12 & lysophosphatidylserines provides new insights into the pathophysiology of the human neurological disorder PHARC - Singh_2020_Biochemistry_59_2299 |
| Author(s) : Singh S , Joshi A , Kamat SS |
| Ref : Biochemistry , 59 :2299 , 2020 |
| Abstract : Singh_2020_Biochemistry_59_2299 |
| ESTHER : Singh_2020_Biochemistry_59_2299 |
| PubMedSearch : Singh_2020_Biochemistry_59_2299 |
| PubMedID: 32462874 |
| Gene_locus related to this paper: human-ABHD12 , human-ABHD16A |
| Title : Genotype-phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome - Thimm_2020_J.Peripher.Nerv.Syst__ |
| Author(s) : Thimm A , Rahal A , Schoen U , Abicht A , Klebe S , Kleinschnitz C , Hagenacker T , Stettner M |
| Ref : J Peripher Nerv Syst , : , 2020 |
| Abstract : Thimm_2020_J.Peripher.Nerv.Syst__ |
| ESTHER : Thimm_2020_J.Peripher.Nerv.Syst__ |
| PubMedSearch : Thimm_2020_J.Peripher.Nerv.Syst__ |
| PubMedID: 32077159 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : Blockade of the Lysophosphatidylserine Lipase ABHD12 Potentiates Ferroptosis in Cancer Cells - Kathman_2020_ACS.Chem.Biol_15_871 |
| Author(s) : Kathman SG , Boshart J , Jing H , Cravatt BF |
| Ref : ACS Chemical Biology , 15 :871 , 2020 |
| Abstract : Kathman_2020_ACS.Chem.Biol_15_871 |
| ESTHER : Kathman_2020_ACS.Chem.Biol_15_871 |
| PubMedSearch : Kathman_2020_ACS.Chem.Biol_15_871 |
| PubMedID: 32195565 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : ABHD12 Knockdown Suppresses Breast Cancer Cell Proliferation, Migration and Invasion - Jun_2020_Anticancer.Res_40_2601 |
| Author(s) : Jun S , Kim SW , Lim JY , Park SJ |
| Ref : Anticancer Research , 40 :2601 , 2020 |
| Abstract : Jun_2020_Anticancer.Res_40_2601 |
| ESTHER : Jun_2020_Anticancer.Res_40_2601 |
| PubMedSearch : Jun_2020_Anticancer.Res_40_2601 |
| PubMedID: 32366405 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review - Li_2019_Gene_704_113 |
| Author(s) : Li T , Feng Y , Liu Y , He C , Liu J , Chen H , Deng Y , Li M , Li W , Song J , Niu Z , Sang S , Wen J , Men M , Chen X , Li J , Liu X , Ling J |
| Ref : Gene , 704 :113 , 2019 |
| Abstract : Li_2019_Gene_704_113 |
| ESTHER : Li_2019_Gene_704_113 |
| PubMedSearch : Li_2019_Gene_704_113 |
| PubMedID: 30974196 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : Human leukocytes differentially express endocannabinoid-glycerol lipases and hydrolyze 2-arachidonoyl-glycerol and its metabolites from the 15-lipoxygenase and cyclooxygenase pathways - Turcotte_2019_J.Leukoc.Biol_106_1337 |
| Author(s) : Turcotte C , Dumais E , Archambault AS , Martin C , Blanchet MR , Bissonnette E , Boulet LP , Laviolette M , Di Marzo V , Flamand N |
| Ref : J Leukoc Biol , 106 :1337 , 2019 |
| Abstract : Turcotte_2019_J.Leukoc.Biol_106_1337 |
| ESTHER : Turcotte_2019_J.Leukoc.Biol_106_1337 |
| PubMedSearch : Turcotte_2019_J.Leukoc.Biol_106_1337 |
| PubMedID: 31556464 |
| Gene_locus related to this paper: human-ABHD6 , human-ABHD12 , human-ABHD16A , human-CES1 , human-LYPLA2 , human-PPT1 |
| Title : Discovery and Optimization of Selective and in Vivo Active Inhibitors of the Lysophosphatidylserine Lipase alpha\/beta-Hydrolase Domain-Containing 12 (ABHD12) - Ogasawara_2019_J.Med.Chem_62_1643 |
| Author(s) : Ogasawara D , Ichu TA , Jing H , Hulce JJ , Reed A , Ulanovskaya OA , Cravatt BF |
| Ref : Journal of Medicinal Chemistry , 62 :1643 , 2019 |
| Abstract : Ogasawara_2019_J.Med.Chem_62_1643 |
| ESTHER : Ogasawara_2019_J.Med.Chem_62_1643 |
| PubMedSearch : Ogasawara_2019_J.Med.Chem_62_1643 |
| PubMedID: 30720278 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : A chemical-genetic screen identifies ABHD12 as an oxidized-phosphatidylserine lipase - Kelkar_2019_Nat.Chem.Biol_15_169 |
| Author(s) : Kelkar DS , Ravikumar G , Mehendale N , Singh S , Joshi A , Sharma AK , Mhetre A , Rajendran A , Chakrapani H , Kamat SS |
| Ref : Nat Chemical Biology , 15 :169 , 2019 |
| Abstract : Kelkar_2019_Nat.Chem.Biol_15_169 |
| ESTHER : Kelkar_2019_Nat.Chem.Biol_15_169 |
| PubMedSearch : Kelkar_2019_Nat.Chem.Biol_15_169 |
| PubMedID: 30643283 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene - Frasquet_2018_J.Neurol.Sci_387_134 |
| Author(s) : Frasquet M , Lupo V , Chumillas MJ , Vazquez-Costa JF , Espinos C , Sevilla T |
| Ref : Journal of Neurology Sci , 387 :134 , 2018 |
| Abstract : Frasquet_2018_J.Neurol.Sci_387_134 |
| ESTHER : Frasquet_2018_J.Neurol.Sci_387_134 |
| PubMedSearch : Frasquet_2018_J.Neurol.Sci_387_134 |
| PubMedID: 29571850 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : Comprehensive Molecular Screening in Chinese Usher Syndrome Patients - Sun_2018_Invest.Ophthalmol.Vis.Sci_59_1229 |
| Author(s) : Sun T , Xu K , Ren Y , Xie Y , Zhang X , Tian L , Li Y |
| Ref : Invest Ophthalmol Vis Sci , 59 :1229 , 2018 |
| Abstract : Sun_2018_Invest.Ophthalmol.Vis.Sci_59_1229 |
| ESTHER : Sun_2018_Invest.Ophthalmol.Vis.Sci_59_1229 |
| PubMedSearch : Sun_2018_Invest.Ophthalmol.Vis.Sci_59_1229 |
| PubMedID: 29625443 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : Biochemical characterization of the PHARC-associated serine hydrolase ABHD12 reveals its preference for very-long-chain lipids - Joshi_2018_J.Biol.Chem_293_16953 |
| Author(s) : Joshi A , Shaikh M , Singh S , Rajendran A , Mhetre A , Kamat SS |
| Ref : Journal of Biological Chemistry , 293 :16953 , 2018 |
| Abstract : Joshi_2018_J.Biol.Chem_293_16953 |
| ESTHER : Joshi_2018_J.Biol.Chem_293_16953 |
| PubMedSearch : Joshi_2018_J.Biol.Chem_293_16953 |
| PubMedID: 30237167 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : Selective blockade of the lyso-PS lipase ABHD12 stimulates immune responses in vivo - Ogasawara_2018_Nat.Chem.Biol_14_1099 |
| Author(s) : Ogasawara D , Ichu TA , Vartabedian VF , Benthuysen J , Jing H , Reed A , Ulanovskaya OA , Hulce JJ , Roberts A , Brown S , Rosen H , Teijaro JR , Cravatt BF |
| Ref : Nat Chemical Biology , 14 :1099 , 2018 |
| Abstract : Ogasawara_2018_Nat.Chem.Biol_14_1099 |
| ESTHER : Ogasawara_2018_Nat.Chem.Biol_14_1099 |
| PubMedSearch : Ogasawara_2018_Nat.Chem.Biol_14_1099 |
| PubMedID: 30420694 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : Structural properties and role of the endocannabinoid lipases ABHD6 and ABHD12 in lipid signalling and disease - Kind_2019_Amino.Acids_51_151 |
| Author(s) : Kind L , Kursula P |
| Ref : Amino Acids , 51 :151 , 2018 |
| Abstract : Kind_2019_Amino.Acids_51_151 |
| ESTHER : Kind_2019_Amino.Acids_51_151 |
| PubMedSearch : Kind_2019_Amino.Acids_51_151 |
| PubMedID: 30564946 |
| Gene_locus related to this paper: human-ABHD6 , human-ABHD12 |
| Title : Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC - Tingaud-Sequeira_2017_Neurobiol.Dis_98_36 |
| Author(s) : Tingaud-Sequeira A , Raldua D , Lavie J , Mathieu G , Bordier M , Knoll-Gellida A , Rambeau P , Coupry I , Andre M , Malm E , Moller C , Andreasson S , Rendtorff ND , Tranebjaerg L , Koenig M , Lacombe D , Goizet C , Babin PJ |
| Ref : Neurobiol Dis , 98 :36 , 2017 |
| Abstract : Tingaud-Sequeira_2017_Neurobiol.Dis_98_36 |
| ESTHER : Tingaud-Sequeira_2017_Neurobiol.Dis_98_36 |
| PubMedSearch : Tingaud-Sequeira_2017_Neurobiol.Dis_98_36 |
| PubMedID: 27890673 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : Chemical Proteomics Maps Brain Region Specific Activity of Endocannabinoid Hydrolases - Baggelaar_2017_ACS.Chem.Biol_12_852 |
| Author(s) : Baggelaar MP , van Esbroeck AC , van Rooden EJ , Florea BI , Overkleeft HS , Marsicano G , Chaouloff F , van der Stelt M |
| Ref : ACS Chemical Biology , 12 :852 , 2017 |
| Abstract : Baggelaar_2017_ACS.Chem.Biol_12_852 |
| ESTHER : Baggelaar_2017_ACS.Chem.Biol_12_852 |
| PubMedSearch : Baggelaar_2017_ACS.Chem.Biol_12_852 |
| PubMedID: 28106377 |
| Gene_locus related to this paper: human-ABHD4 , human-ABHD6 , human-ABHD12 , human-DAGLA , human-MGLL |
| Title : A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature - Lerat_2017_J.Peripher.Nerv.Syst_22_77 |
| Author(s) : Lerat J , Cintas P , Beauvais-Dzugan H , Magdelaine C , Sturtz F , Lia AS |
| Ref : J Peripher Nerv Syst , 22 :77 , 2017 |
| Abstract : Lerat_2017_J.Peripher.Nerv.Syst_22_77 |
| ESTHER : Lerat_2017_J.Peripher.Nerv.Syst_22_77 |
| PubMedSearch : Lerat_2017_J.Peripher.Nerv.Syst_22_77 |
| PubMedID: 28448692 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : Immunomodulatory lysophosphatidylserines are regulated by ABHD16A and ABHD12 interplay - Kamat_2015_Nat.Chem.Biol_11_164 |
| Author(s) : Kamat SS , Camara K , Parsons WH , Chen DH , Dix MM , Bird TD , Howell AR , Cravatt BF |
| Ref : Nat Chemical Biology , 11 :164 , 2015 |
| Abstract : Kamat_2015_Nat.Chem.Biol_11_164 |
| ESTHER : Kamat_2015_Nat.Chem.Biol_11_164 |
| PubMedSearch : Kamat_2015_Nat.Chem.Biol_11_164 |
| PubMedID: 25580854 |
| Gene_locus related to this paper: human-ABHD12 , human-ABHD16A , mouse-abd12 , mouse-Abhd16a |
| Title : Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness - Yoshimura_2015_Ann.Otol.Rhinol.Laryngol_124 Suppl 1_77S |
| Author(s) : Yoshimura H , Hashimoto T , Murata T , Fukushima K , Sugaya A , Nishio SY , Usami S |
| Ref : Ann Otol Rhinol Laryngol , 124 Suppl 1 :77S , 2015 |
| Abstract : Yoshimura_2015_Ann.Otol.Rhinol.Laryngol_124 Suppl 1_77S |
| ESTHER : Yoshimura_2015_Ann.Otol.Rhinol.Laryngol_124 Suppl 1_77S |
| PubMedSearch : Yoshimura_2015_Ann.Otol.Rhinol.Laryngol_124 Suppl 1_77S |
| PubMedID: 25743180 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration - Nishiguchi_2014_Ophthalmology_121_1620 |
| Author(s) : Nishiguchi KM , Avila-Fernandez A , van Huet RA , Corton M , Perez-Carro R , Martin-Garrido E , Lopez-Molina MI , Blanco-Kelly F , Hoefsloot LH , van Zelst-Stams WA , Garcia-Ruiz PJ , Del Val J , Di Gioia SA , Klevering BJ , van de Warrenburg BP , Vazquez C , Cremers FP , Garcia-Sandoval B , Hoyng CB , Collin RW , Rivolta C , Ayuso C |
| Ref : Ophthalmology , 121 :1620 , 2014 |
| Abstract : Nishiguchi_2014_Ophthalmology_121_1620 |
| ESTHER : Nishiguchi_2014_Ophthalmology_121_1620 |
| PubMedSearch : Nishiguchi_2014_Ophthalmology_121_1620 |
| PubMedID: 24697911 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : Discovery of Triterpenoids as Reversible Inhibitors of alpha\/beta-hydrolase Domain Containing 12 (ABHD12) - Parkkari_2014_PLoS.One_9_e98286 |
| Author(s) : Parkkari T , Haavikko R , Laitinen T , Navia-Paldanius D , Rytilahti R , Vaara M , Lehtonen M , Alakurtti S , Yli-Kauhaluoma J , Nevalainen T , Savinainen JR , Laitinen JT |
| Ref : PLoS ONE , 9 :e98286 , 2014 |
| Abstract : Parkkari_2014_PLoS.One_9_e98286 |
| ESTHER : Parkkari_2014_PLoS.One_9_e98286 |
| PubMedSearch : Parkkari_2014_PLoS.One_9_e98286 |
| PubMedID: 24879289 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : In vivo metabolite profiling as a means to identify uncharacterized lipase function: Recent success stories within the alpha beta hydrolase domain (ABHD) enzyme family - Thomas_2014_Biochim.Biophys.Acta_1841_1097 |
| Author(s) : Thomas G , Brown AL , Brown JM |
| Ref : Biochimica & Biophysica Acta , 1841 :1097 , 2014 |
| Abstract : Thomas_2014_Biochim.Biophys.Acta_1841_1097 |
| ESTHER : Thomas_2014_Biochim.Biophys.Acta_1841_1097 |
| PubMedSearch : Thomas_2014_Biochim.Biophys.Acta_1841_1097 |
| PubMedID: 24423940 |
| Gene_locus related to this paper: human-ABHD3 , human-ABHD6 , human-ABHD12 |
| Title : Robust Hydrolysis of Prostaglandin Glycerol Esters by Human Monoacylglycerol Lipase (MAGL) - Savinainen_2014_Mol.Pharmacol_86_522 |
| Author(s) : Savinainen JR , Kansanen E , Pantsar T , Navia-Paldanius D , Parkkari T , Lehtonen M , Laitinen T , Nevalainen T , Poso A , Levonen AL , Laitinen JT |
| Ref : Molecular Pharmacology , 86 :522 , 2014 |
| Abstract : Savinainen_2014_Mol.Pharmacol_86_522 |
| ESTHER : Savinainen_2014_Mol.Pharmacol_86_522 |
| PubMedSearch : Savinainen_2014_Mol.Pharmacol_86_522 |
| PubMedID: 25140003 |
| Gene_locus related to this paper: human-ABHD6 , human-ABHD12 , human-MGLL |
| Title : Two Novel Mutations in ABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects - Chen_2013_Hum.Mutat_34_1672 |
| Author(s) : Chen DH , Naydenov A , Blankman JL , Mefford HC , Davis M , Sul Y , Barloon AS , Bonkowski E , Wolff J , Matsushita M , Smith C , Cravatt BF , Mackie K , Raskind WH , Stella N , Bird TD |
| Ref : Hum Mutat , 34 :1672 , 2013 |
| Abstract : Chen_2013_Hum.Mutat_34_1672 |
| ESTHER : Chen_2013_Hum.Mutat_34_1672 |
| PubMedSearch : Chen_2013_Hum.Mutat_34_1672 |
| PubMedID: 24027063 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3 - Eisenberger_2012_Orphanet.J.Rare.Dis_7_59 |
| Author(s) : Eisenberger T , Slim R , Mansour A , Nauck M , Nurnberg G , Nurnberg P , Decker C , Dafinger C , Ebermann I , Bergmann C , Bolz H |
| Ref : Orphanet J Rare Dis , 7 :59 , 2012 |
| Abstract : Eisenberger_2012_Orphanet.J.Rare.Dis_7_59 |
| ESTHER : Eisenberger_2012_Orphanet.J.Rare.Dis_7_59 |
| PubMedSearch : Eisenberger_2012_Orphanet.J.Rare.Dis_7_59 |
| PubMedID: 22938382 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : Biochemical and pharmacological characterization of human alpha\/beta-hydrolase domain containing 6 (ABHD6) and 12 (ABHD12) - Navia-Paldanius_2012_J.Lipid.Res_53_2413 |
| Author(s) : Navia-Paldanius D , Savinainen JR , Laitinen JT |
| Ref : J Lipid Res , 53 :2413 , 2012 |
| Abstract : Navia-Paldanius_2012_J.Lipid.Res_53_2413 |
| ESTHER : Navia-Paldanius_2012_J.Lipid.Res_53_2413 |
| PubMedSearch : Navia-Paldanius_2012_J.Lipid.Res_53_2413 |
| PubMedID: 22969151 |
| Gene_locus related to this paper: human-ABHD6 , human-ABHD12 |
| Title : The serine hydrolases MAGL, ABHD6 and ABHD12 as guardians of 2-arachidonoylglycerol signalling through cannabinoid receptors - Savinainen_2012_Acta.Physiol.(Oxf)_204_267 |
| Author(s) : Savinainen JR , Saario SM , Laitinen JT |
| Ref : Acta Physiol (Oxf) , 204 :267 , 2012 |
| Abstract : Savinainen_2012_Acta.Physiol.(Oxf)_204_267 |
| ESTHER : Savinainen_2012_Acta.Physiol.(Oxf)_204_267 |
| PubMedSearch : Savinainen_2012_Acta.Physiol.(Oxf)_204_267 |
| PubMedID: 21418147 |
| Gene_locus related to this paper: human-ABHD6 , human-ABHD12 , human-MGLL |
| Title : Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism - Fiskerstrand_2010_Am.J.Hum.Genet_87_410 |
| Author(s) : Fiskerstrand T , H'Mida-Ben Brahim D , Johansson S , M'Zahem A , Haukanes BI , Drouot N , Zimmermann J , Cole AJ , Vedeler C , Bredrup C , Assoum M , Tazir M , Klockgether T , Hamri A , Steen VM , Boman H , Bindoff LA , Koenig M , Knappskog PM |
| Ref : American Journal of Human Genetics , 87 :410 , 2010 |
| Abstract : Fiskerstrand_2010_Am.J.Hum.Genet_87_410 |
| ESTHER : Fiskerstrand_2010_Am.J.Hum.Genet_87_410 |
| PubMedSearch : Fiskerstrand_2010_Am.J.Hum.Genet_87_410 |
| PubMedID: 20797687 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : A novel Refsum-like disorder that maps to chromosome 20 - Fiskerstrand_2009_Neurology_72_20 |
| Author(s) : Fiskerstrand T , Knappskog P , Majewski J , Wanders RJ , Boman H , Bindoff LA |
| Ref : Neurology , 72 :20 , 2009 |
| Abstract : Fiskerstrand_2009_Neurology_72_20 |
| ESTHER : Fiskerstrand_2009_Neurology_72_20 |
| PubMedSearch : Fiskerstrand_2009_Neurology_72_20 |
| PubMedID: 19005174 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : A comprehensive profile of brain enzymes that hydrolyze the endocannabinoid 2-arachidonoylglycerol - Blankman_2007_Chem.Biol_14_1347 |
| Author(s) : Blankman JL , Simon GM , Cravatt BF |
| Ref : Chemical Biology , 14 :1347 , 2007 |
| Abstract : Blankman_2007_Chem.Biol_14_1347 |
| ESTHER : Blankman_2007_Chem.Biol_14_1347 |
| PubMedSearch : Blankman_2007_Chem.Biol_14_1347 |
| PubMedID: 18096503 |
| Gene_locus related to this paper: human-ABHD6 , human-ABHD12 , human-MGLL |