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identified the previously unrecognized SLC25A45 as a mediator of TML transport into mitochondria, thereby enabling de novo l -carnitine biosynthesis

The OCTN2 carnitine transporter mediates high-affinity carnitine transport Defective OCTN2 activity reduces carnitine levels and impairs fatty acid oxidation Missense mutations in OCTN2 define the function of selected transporter domains Defects in carnitine biosynthesis do not reduce carnitine levels Acknowledgments This work was supported in part by NIH grant DK 53824

It is characterized by deleterious alterations in the NF1 tumor suppressor gene at 17q11.2, resulting in heterozygous, loss-of-function mutations

Resistance to platinum-based drugs has seriously affected prognosis in tumor patients

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