Marco Flores‐Méndez

TBCK-deficiency leads to compartment-specific mRNA and lysosomal trafficking defects in patient-derived neurons

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.

IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency

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

Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy

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

Altered lipid homeostasis underlies selective neurodegeneration in SNX14 deficiency

This study shows that SNX14 deficiency causes cerebellar neurodegeneration through lipid metabolism defects and identifies a unique lipid metabolite profile linking acylcarnitine accumulation to neuronal loss.

Multimerization of Zika Virus-NS5 causes a ciliopathy and forces premature neurogenesis

This study shows that ZikV-NS5 multimerization causes a ciliopathy and premature neurogenesis in neural progenitor cells, identifying potential therapeutic targets for congenital Zika syndrome.