| Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants. | Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants.
Long X, Xiong W, Wang X, Geng J, Zhong M, Huang Y, Liu M, Bu F, Cheng J, Lu Y, Yuan H., Free PMC Article | 09/18/2024 |
| The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective. | The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective.
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., Free PMC Article | 02/19/2022 |
| Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome. | Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.
Igelman AD, Ku C, da Palma MM, Georgiou M, Schiff ER, Lam BL, Sankila EM, Ahn J, Pyers L, Vincent A, Ferraz Sallum JM, Zein WM, Oh JK, Maldonado RS, Ryu J, Tsang SH, Gorin MB, Webster AR, Michaelides M, Yang P, Pennesi ME., Free PMC Article | 02/5/2022 |
| Mapping the Neuroanatomy of ABHD16A, ABHD12, and Lysophosphatidylserines Provides New Insights into the Pathophysiology of the Human Neurological Disorder PHARC. | 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., Free PMC Article | 02/27/2021 |
| ABHD12 plays a crucial role in cell proliferation, migration, and invasion of breast cancer cells. | ABHD12 Knockdown Suppresses Breast Cancer Cell Proliferation, Migration and Invasion.
Jun S, Kim SW, Lim JY, Park SJ. | 05/16/2020 |
| Findings in Usher Syndrome predicted the potential function of this gene in the development of hearing and vision loss, particularly with regard to impaired signal transmission, and identified a novel nonsense variant to expand the variant spectrum in ABHD12. | A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review.
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. | 06/22/2019 |
| ABHD12 is enriched on the endoplasmic reticulum membrane, where most of the very-long-chain fatty acids are biosynthesized in cells. | Biochemical characterization of the PHARC-associated serine hydrolase ABHD12 reveals its preference for very-long-chain lipids.
Joshi A, Shaikh M, Singh S, Rajendran A, Mhetre A, Kamat SS., Free PMC Article | 06/1/2019 |
| This study presented the various mutation of ABHD12 responsible for PHARC syndrome. | 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. | 03/17/2018 |
| Study identified a new missense mutation, p.T253R, in ABHD12, which is functionally linked to the neurodegenerative disease PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract), as demonstrated by its deactivation of monoacylglycerol lipase activity and inability to rescue zebrafish abhd12 knockdown phenotypes. | 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. | 03/3/2018 |
| 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. | 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. | 08/22/2015 |
| 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. | 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. | 12/6/2014 |
| 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. | 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., Free PMC Article | 06/21/2014 |
| ABHD12 mutations are not a frequent cause of ataxia at least in Southern Italy | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataracts (PHARC) screening in an Italian population.
Criscuolo C, Guacci A, Carbone R, Lieto M, Salsano E, Nanetti L, Michele GD, Filla A. | 08/31/2013 |
| After the identification of the ABHD12 mutation in this family, one patient underwent neurological examination which revealed ataxia, but no polyneuropathy | 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 T, Slim R, Mansour A, Nauck M, Nürnberg G, Nürnberg P, Decker C, Dafinger C, Ebermann I, Bergmann C, Bolz HJ., Free PMC Article | 04/13/2013 |
| Data show that the three hydrolases are genuine MAG lipases; medium-chain saturated MAGs were the best substrates for hABHD6 and hMAGL, whereas hABHD12 preferred the 1 (3)- and 2-isomers of arachidonoylglycerol. | Biochemical and pharmacological characterization of human α/β-hydrolase domain containing 6 (ABHD6) and 12 (ABHD12).
Navia-Paldanius D, Savinainen JR, Laitinen JT., Free PMC Article | 03/9/2013 |
| Mutations in the ABHD12 gene cause polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract disease. | Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.
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., Free PMC Article | 10/23/2010 |