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It is caused by mutations in the SLC22A5 gene encoding the OCTN2 carnitine transporter

Fumarate, or fumaric acid, is a naturally occurring organic acid that serves as a direct intermediate in the Krebs cycle (also known as the Citric Acid Cycle or TCA cycle)

doi:10.3389/fimmu.2023.1253121 Jurek JM, Castro-Marrero J

1st Phorm L-Carnitine with Fucoxanthin : Best Overall Best Overall L-Carnitine + fucoxanthin for dual-mechanism fat loss support (mitochondrial transport + UCP1 activation) 9.2/10 The only product in this ranking combining L-carnitine (fatty acid transport into mitochondria) with fucoxanthin (a marine carotenoid that activates thermogenesis in adipose tissue), targeting fat loss through two distinct pathways

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The human PDAC tumor data were derived from TCGA Research Network ( The dataset derived from this resource that supports the findings of this study is available from the National Center for Biotechnology Informations Sequence Read Archive under BioProject PRJNA877775