Jesus A Tintos-Hernández

This study identifies TBCK's role in mRNA and lysosomal trafficking in neurons, showing that TBCK deficiency causes compartment-specific trafficking defects contributing to neurodegeneration.

This study shows that IMPDH2 filaments protect neurons from degeneration in AMPD2 deficiency by preventing GTP deprivation.

This study identifies heterozygous FTH1 variants causing a novel pediatric neuroferritinopathy with neuroimaging and neuropathological features, and suggests antisense oligonucleotide therapy.

This study shows that TBCK mutations impair mitochondrial quality control via lysosomal dysfunction, correlating with neurodegeneration severity.