These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
164 related articles for article (PubMed ID: 34727579)
1. The loss of enzymatic activity of the PHARC-associated lipase ABHD12 results in increased phagocytosis that causes neuroinflammation. Singh S; Kamat SS Eur J Neurosci; 2021 Nov; 54(10):7442-7457. PubMed ID: 34727579 [TBL] [Abstract][Full Text] [Related]
2. Mapping the Neuroanatomy of ABHD16A, ABHD12, and Lysophosphatidylserines Provides New Insights into the Pathophysiology of the Human Neurological Disorder PHARC. Singh S; Joshi A; Kamat SS Biochemistry; 2020 Jun; 59(24):2299-2311. PubMed ID: 32462874 [TBL] [Abstract][Full Text] [Related]
6. ABHD12 controls brain lysophosphatidylserine pathways that are deregulated in a murine model of the neurodegenerative disease PHARC. Blankman JL; Long JZ; Trauger SA; Siuzdak G; Cravatt BF Proc Natl Acad Sci U S A; 2013 Jan; 110(4):1500-5. PubMed ID: 23297193 [TBL] [Abstract][Full Text] [Related]
7. Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC. Tingaud-Sequeira A; Raldúa D; Lavie J; Mathieu G; Bordier M; Knoll-Gellida A; Rambeau P; Coupry I; André M; Malm E; Möller C; Andreasson S; Rendtorff ND; Tranebjærg L; Koenig M; Lacombe D; Goizet C; Babin PJ Neurobiol Dis; 2017 Feb; 98():36-51. PubMed ID: 27890673 [TBL] [Abstract][Full Text] [Related]
11. Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects. 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 Hum Mutat; 2013 Dec; 34(12):1672-8. PubMed ID: 24027063 [TBL] [Abstract][Full Text] [Related]
12. A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature. Lerat J; Cintas P; Beauvais-Dzugan H; Magdelaine C; Sturtz F; Lia AS J Peripher Nerv Syst; 2017 Jun; 22(2):77-84. PubMed ID: 28448692 [TBL] [Abstract][Full Text] [Related]
13. Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration. Nishiguchi KM; Avila-Fernandez A; van Huet RA; Corton M; Pérez-Carro R; Martín-Garrido E; López-Molina MI; Blanco-Kelly F; Hoefsloot LH; van Zelst-Stams WA; García-Ruiz PJ; Del Val J; Di Gioia SA; Klevering BJ; van de Warrenburg BP; Vazquez C; Cremers FP; García-Sandoval B; Hoyng CB; Collin RW; Rivolta C; Ayuso C Ophthalmology; 2014 Aug; 121(8):1620-7. PubMed ID: 24697911 [TBL] [Abstract][Full Text] [Related]
14. Discovery and Optimization of Selective and in Vivo Active Inhibitors of the Lysophosphatidylserine Lipase α/β-Hydrolase Domain-Containing 12 (ABHD12). Ogasawara D; Ichu TA; Jing H; Hulce JJ; Reed A; Ulanovskaya OA; Cravatt BF J Med Chem; 2019 Feb; 62(3):1643-1656. PubMed ID: 30720278 [TBL] [Abstract][Full Text] [Related]
15. Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness. Yoshimura H; Hashimoto T; Murata T; Fukushima K; Sugaya A; Nishio SY; Usami S Ann Otol Rhinol Laryngol; 2015 May; 124 Suppl 1():77S-83S. PubMed ID: 25743180 [TBL] [Abstract][Full Text] [Related]
18. Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. Frasquet M; Lupo V; Chumillas MJ; Vázquez-Costa JF; Espinós C; Sevilla T J Neurol Sci; 2018 Apr; 387():134-138. PubMed ID: 29571850 [TBL] [Abstract][Full Text] [Related]
19. The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in Nguyen XT; Almushattat H; Strubbe I; Georgiou M; Li CHZ; van Schooneveld MJ; Joniau I; De Baere E; Florijn RJ; Bergen AA; Hoyng CB; Michaelides M; Leroy BP; Boon CJF Genes (Basel); 2021 Sep; 12(9):. PubMed ID: 34573385 [TBL] [Abstract][Full Text] [Related]
20. Elevated Levels of Arachidonic Acid-Derived Lipids Including Prostaglandins and Endocannabinoids Are Present Throughout ABHD12 Knockout Brains: Novel Insights Into the Neurodegenerative Phenotype. Leishman E; Mackie K; Bradshaw HB Front Mol Neurosci; 2019; 12():142. PubMed ID: 31213981 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]