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Items: 1 to 20 of 22

1.
Unilateral Cataract and Retinitis Pigmentosa in a Patient With Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract (PHARC) Syndrome: A Case Report
Miguel E Hernández-Emanuelli, Andres Emanuelli, Natalio Izquierdo
Cureus. 2024 Feb; 16(2): e54295. Published online 2024 Feb 16. doi: 10.7759/cureus.54295
PMCID:
PMC10870802
AbstractArticlePDF–1.1M
2.
Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12
Ahmad Daneshi, Masoud Garshasbi, Mohammad Farhadi, Khalil Ghasemi Falavarjani, Mohammad Vafaee-Shahi, Navid Almadani, MohammadSina Zabihi, Mohammad Amin Ghalavand, Masoumeh Falah
BMC Med Genomics. 2023; 16: 235. Published online 2023 Oct 6. doi: 10.1186/s12920-023-01682-w
PMCID:
PMC10557151
AbstractArticlePDF–2.7M
3.
The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective
Xuan-Thanh-An Nguyen, Hind Almushattat, Ine Strubbe, Michalis Georgiou, Catherina H. Z. Li, Mary J. van Schooneveld, Inge Joniau, Elfride De Baere, Ralph J. Florijn, Arthur A. Bergen, Carel B. Hoyng, Michel Michaelides, Bart P. Leroy, Camiel J. F. Boon
Genes (Basel) 2021 Sep; 12(9): 1404. Published online 2021 Sep 11. doi: 10.3390/genes12091404
PMCID:
PMC8467809
AbstractArticlePDF–1.3M
4.
The loss of enzymatic activity of the PHARC‐associated lipase ABHD12 results in increased phagocytosis that causes neuroinflammation
Shubham Singh, Siddhesh S. Kamat
Eur J Neurosci. 2021 Nov; 54(10): 7442–7457. Published online 2021 Nov 11. doi: 10.1111/ejn.15516
PMCID:
PMC7612011
AbstractArticlePDF–12M
5.
Mapping the neuroanatomy of ABHD16A–ABHD12 & lysophosphatidylserines provides new insights into the pathophysiology of the human neurological disorder PHARC
Shubham Singh, Alaumy Joshi, Siddhesh S. Kamat
Biochemistry. Author manuscript; available in PMC 2020 Dec 23.
Published in final edited form as: Biochemistry. 2020 May 28; 59(24): 2299–2311. Published online 2020 May 28. doi: 10.1021/acs.biochem.0c00349
PMCID:
PMC7311203
AbstractArticlePDF–3.8M
6.
Biochemical characterization of the PHARC-associated serine hydrolase ABHD12 reveals its preference for very-long-chain lipids
Alaumy Joshi, Minhaj Shaikh, Shubham Singh, Abinaya Rajendran, Amol Mhetre, Siddhesh S. Kamat
J Biol Chem. 2018 Nov 2; 293(44): 16953–16963. Published online 2018 Sep 20. doi: 10.1074/jbc.RA118.005640
PMCID:
PMC6217928
AbstractArticlePDF–1.5M
7.
Two Novel Mutations in ABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of their Functional Effects
Dong-Hui Chen, Alipi Naydenov, Jacqueline L. Blankman, Heather C. Mefford, Marie Davis, Youngmee Sul, A. Samuel Barloon, Emily Bonkowski, John Wolff, Mark Matsushita, Corrine Smith, Benjamin F. Cravatt, Ken Mackie, Wendy H. Raskind, Nephi Stella, Thomas D. Bird
Hum Mutat. Author manuscript; available in PMC 2014 Dec 1.
Published in final edited form as: Hum Mutat. 2013 Dec; 34(12): 1672–1678. Published online 2013 Oct 2. doi: 10.1002/humu.22437
PMCID:
PMC3855015
AbstractArticlePDF–782K
8.
ABHD12 controls brain lysophosphatidylserine pathways that are deregulated in a murine model of the neurodegenerative disease PHARC
Jacqueline L. Blankman, Jonathan Z. Long, Sunia A. Trauger, Gary Siuzdak, Benjamin F. Cravatt
Proc Natl Acad Sci U S A. 2013 Jan 22; 110(4): 1500–1505. Published online 2013 Jan 7. doi: 10.1073/pnas.1217121110
PMCID:
PMC3557017
AbstractArticlePDF–876K
9.
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
Tobias Eisenberger, Rima Slim, Ahmad Mansour, Markus Nauck, Gudrun Nürnberg, Peter Nürnberg, Christian Decker, Claudia Dafinger, Inga Ebermann, Carsten Bergmann, Hanno Jörn Bolz
Orphanet J Rare Dis. 2012; 7: 59. Published online 2012 Sep 2. doi: 10.1186/1750-1172-7-59
PMCID:
PMC3518140
AbstractArticlePDF–836K
10.
Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism
Torunn Fiskerstrand, Dorra H'mida-Ben Brahim, Stefan Johansson, Abderrahim M'zahem, Bjørn Ivar Haukanes, Nathalie Drouot, Julian Zimmermann, Andrew J. Cole, Christian Vedeler, Cecilie Bredrup, Mirna Assoum, Meriem Tazir, Thomas Klockgether, Abdelmadjid Hamri, Vidar M. Steen, Helge Boman, Laurence A. Bindoff, Michel Koenig, Per M. Knappskog
Am J Hum Genet. 2010 Sep 10; 87(3): 410–417. doi: 10.1016/j.ajhg.2010.08.002
PMCID:
PMC2933347
AbstractArticlePDF–322K
11.
Whole-exome sequencing prioritizes candidate genes for hereditary cataract in the Emory mouse mutant
Thomas M Bennett, Yuefang Zhou, Kacie J Meyer, Michael G Anderson, Alan Shiels
G3 (Bethesda) 2023 May; 13(5): jkad055. Published online 2023 Mar 9. doi: 10.1093/g3journal/jkad055
PMCID:
PMC10151407
AbstractArticlePDF–793K
12.
Immunomodulatory lysophosphatidylserines are regulated by ABHD16A and ABHD12 interplay
Siddhesh S. Kamat, Kaddy Camara, William H. Parsons, Dong-Hui Chen, Melissa M. Dix, Thomas D. Bird, Amy R. Howell, Benjamin F. Cravatt
Nat Chem Biol. Author manuscript; available in PMC 2015 Aug 1.
Published in final edited form as: Nat Chem Biol. 2015 Feb; 11(2): 164–171. Published online 2015 Jan 12. doi: 10.1038/nchembio.1721
PMCID:
PMC4301979
ArticlePDF–1.2M
13.
ABHD12 and LPCAT3 interplay regulates a lyso-phosphatidylserine-C20:4 phosphatidylserine lipid network implicated in neurological disease
Taka-Aki Ichu, Alex Reed, Daisuke Ogasawara, Olesya Ulanovskaya, Amanda Roberts, Carlos A. Aguirre, Liron Bar-Peled, Jie Gao, Jason Germain, Sabrina Barbas, Kim Masuda, Bruno Conti, Peter Tontonoz, Benjamin F. Cravatt
Biochemistry. Author manuscript; available in PMC 2021 May 19.
Published in final edited form as: Biochemistry. 2020 May 19; 59(19): 1793–1799. Published online 2020 May 4. doi: 10.1021/acs.biochem.0c00292
PMCID:
PMC7394188
AbstractArticlePDF–1.2M
14.
Selective blockade of the lyso-PS lipase ABHD12 stimulates immune responses in vivo
Daisuke Ogasawara, Taka Aki-Ichu, Vincent Vartabedian, Jacqueline Benthuysen, Hui Jing, Alex Reed, Olesya Ulanovskaya, Jonathan J. Hulce, Amanda Roberts, Steven Brown, Hugh Rosen, John R. Teijaro, Benjamin F. Cravatt
Nat Chem Biol. Author manuscript; available in PMC 2019 May 12.
Published in final edited form as: Nat Chem Biol. 2018 Dec; 14(12): 1099–1108. Published online 2018 Nov 12. doi: 10.1038/s41589-018-0155-8
PMCID:
PMC6263940
AbstractArticlePDF–983K
15.
Enhanced Production of (R)-3-Hydroxybutyrate Oligomers by Coexpression of Molecular Chaperones in Recombinant Escherichia coli Harboring a Polyhydroxyalkanoate Synthase Derived from Bacillus cereus YB-4
Saki Goto, Yuki Miyahara, Seiichi Taguchi, Takeharu Tsuge, Ayaka Hiroe
Microorganisms. 2022 Feb; 10(2): 458. Published online 2022 Feb 16. doi: 10.3390/microorganisms10020458
PMCID:
PMC8878867
AbstractArticlePDF–1.6M
16.
Screening Method for Polyhydroxyalkanoate Synthase Mutants Based on Polyester Degree of Polymerization Using High-Performance Liquid Chromatography
Manami Ishii-Hyakutake, Tetsuo Sakurai, Takeharu Tsuge
Microorganisms. 2021 Sep; 9(9): 1949. Published online 2021 Sep 14. doi: 10.3390/microorganisms9091949
PMCID:
PMC8469876
AbstractArticlePDF–1.9M
17.
Fatty acid chain length drives lysophosphatidylserine dependent immunological outputs
Neha Khandelwal, Minhaj Shaikh, Amol Mhetre, Shubham Singh, Theja Sajeevan, Alaumy Joshi, Kithiganahalli Narayanswamy Balaji, Harinath Chakrapani, Siddhesh S. Kamat
Cell Chem Biol. Author manuscript; available in PMC 2022 Feb 19.
Published in final edited form as: Cell Chem Biol. 2021 Aug 19; 28(8): 1169–1179.e6. Published online 2021 Feb 10. doi: 10.1016/j.chembiol.2021.01.008
PMCID:
PMC7611549
AbstractArticlePDF–2.4M
18.
Elevated Levels of Arachidonic Acid-Derived Lipids Including Prostaglandins and Endocannabinoids Are Present Throughout ABHD12 Knockout Brains: Novel Insights Into the Neurodegenerative Phenotype
Emma Leishman, Ken Mackie, Heather B. Bradshaw
Front Mol Neurosci. 2019; 12: 142. Published online 2019 May 31. doi: 10.3389/fnmol.2019.00142
PMCID:
PMC6555221
AbstractArticlePDF–5.0M
19.
Discovery of Triterpenoids as Reversible Inhibitors of α/β-hydrolase Domain Containing 12 (ABHD12)
Teija Parkkari, Raisa Haavikko, Tuomo Laitinen, Dina Navia-Paldanius, Roosa Rytilahti, Miia Vaara, Marko Lehtonen, Sami Alakurtti, Jari Yli-Kauhaluoma, Tapio Nevalainen, Juha R. Savinainen, Jarmo T. Laitinen
PLoS One. 2014; 9(5): e98286. Published online 2014 May 30. doi: 10.1371/journal.pone.0098286
PMCID:
PMC4045134
AbstractArticlePDF–1.2M
20.
Clinical trials in pulmonary hypertension: Time for a consortium
John H. Newman, Gregory C. Elliott, Glennis S. Haworth, Edio Zampaglione, Satjit Brar, Simon J. Gibbs, Julio Sandoval
Pulm Circ. 2013 Jan-Mar; 3(1): 245–251. doi: 10.4103/2045-8932.109922
PMCID:
PMC3641735
AbstractArticlePDF–1.1M

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