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• W4378651750 abstract "Folate participates in the one-carbon metabolism pathway, and several genes code for the specific enzymes responsible for the different isoforms present in the cell. Folate acts as a crucial epigenetic modifier and DNA expression regulator during the entire cell life and embryo development. It is integrated in a complex system linking genetic and epigenetic features. Cells in the central nervous system are sensitive targets, and many neurodevelopmental disorders may originate from a defective signaling during perinatal brain development. Autism spectrum disorder (ASD) is a complex neurodevelopmental condition affecting behavior and communication, presenting with extremely different clinical phenotypes and features. ASD etiology is composite with inherited and acquired causes responsible for different individual clinical phenotypes. Several candidate genes and specific mutations linked to ASD have been detected in approximately 10%–25% of patients, and among the most common investigated folate gene variants are those involved in the one-carbon-unit pathway: DHFR (5q14.1; rs70991108, 19bp ins/del), MTHFR (1p36.22; rs1801133, C677T and rs1801131, A1298C), and CBS (21q22.3; rs876657421, 844ins68). Folate gene polymorphisms have also been associated with other psychiatric and neurodegenerative diseases, mainly focusing on these gene variants. However, their roles have been scarcely investigated from a sex or gender perspective despite ASD being strongly characterized by a sex gap. Accordingly, we aimed to discuss the molecular mechanisms underlying the intracellular recycling of folate participating in the remethylation and transsulfuration pathways that potentially affect ASD. During the fetal life, the brain epigenome reflects different sex-dependent imprinting effects that are difficult to decrypt but may bring promising novel perspectives in ASD diagnosis and treatment." @default.
• W4378651750 created "2023-05-30" @default.
• W4378651750 creator A5082312639 @default.
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• W4378651750 date "2023-01-01" @default.
• W4378651750 modified "2023-09-27" @default.
• W4378651750 title "Genetics and epigenetics of the one-carbon metabolism pathway in autism spectrum disorder: Role of a sex-specific brain epigenome" @default.
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• W4378651750 doi "https://doi.org/10.1016/b978-0-12-823937-7.00007-9" @default.
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