Xilma Rosa Ortiz-Gonzalez

This study identifies SNX13 and SNX14 as proteins that maintain lysosome membrane integrity and prevent neurodegeneration by supporting lipid homeostasis and repair mechanisms.

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.