Cystinosis stands as a prototypic disorder for a subgroup of lysosomal storage diseases caused by defective lysosomal transporters [2]
Crucially, Crat knockout experiments partially reversed these metabolic improvements, establishing CrAT-mediated SREBP1c inhibition as a key mechanism through which L-carnitine counteracts de novo lipogenesis
This finding is in agreement with Anitua et al., who reported that endogenous activation supports a sustained release of growth factors, in contrast to exogenous activation, which induces a rapid initial burst followed by early depletion 38
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