Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants-Reference-Cited by-同舟云学术

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Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants

Published:2024-08-09 Issue:1 Volume:17 Page:
ISSN:1755-8794
Container-title:BMC Medical Genomics
language:en
Short-container-title:BMC Med Genomics

Author:

Long Xicui,Xiong Wenyu,Wang Xuegang,Geng Jia,Zhong Mingjun,Huang Yu,Liu Man,Bu Fengxiao,Cheng Jing,Lu Yu,Yuan Huijun

Funder

National Key R&D Program of China

1.3.5 Project for Disciplines of Excellence, West China Hospital, Sichuan University

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1186/s12920-024-01984-7.pdf

Reference23 articles.

1. Fiskerstrand T, Knappskog P, Majewski J, Wanders RJ, Boman H, Bindoff LA. A novel Refsum-like disorder that maps to chromosome 20. Neurology. 2009;72(1):20–7.

2. 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. Mutations in ABHD12 cause the neurodegenerative disease PHARC: an inborn error of endocannabinoid metabolism. Am J Hum Genet. 2010;87(3):410–7.

3. Blankman JL, Long JZ, Trauger SA, Siuzdak G, Cravatt BF. ABHD12 controls brain lysophosphatidylserine pathways that are deregulated in a murine model of the neurodegenerative disease PHARC. Proc Natl Acad Sci U S A. 2013;110(4):1500–5.

4. Lord CC, Thomas G, Brown JM. Mammalian alpha beta hydrolase domain (ABHD) proteins: lipid metabolizing enzymes at the interface of cell signaling and energy metabolism. Biochim Biophys Acta. 2013;1831(4):792–802.

5. 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. The phenotypic spectrum of patients with PHARC Syndrome due to variants in ABHD12: an Ophthalmic Perspective. Genes (Basel). 2021;12(9):1404.

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