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Shah SH, Kraus WE, Newgard CB

10.1038/ng1175 174 PatelS

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Defects of the OCNT2 transporter protein result in urinary carnitine wasting, low serum carnitine levels, and decreased intracellular carnitine accumulation.14-16) As a consequence, impaired oxidation of long chain fatty acids leads to deficient energy generation as well as reduced ketogenesis, particularly during fasting or stress, and accumulation of long-chain fatty acids in the cytoplasm of affected tissues

58,142144 Anfinsens thermodynamic hypothesis emphasized the shape of the energy landscape where the native state is the one with the lowest free energy