Lysosomal Storage Disorders Research

This paper demonstrates that crotamine can deliver therapeutic genes to treat Pompe disease in vitro and in vivo, improving GAA activity and reversing clinical phenotypes.

This study identifies a metabolic shift driven by PFKFB3 in CLN7 disease, showing that targeting glycolysis can alleviate disease hallmarks in a mouse model and patient-derived cells.

The paper shows that Acat1 gene knockout improves cholesterol levels and extends lifespan in mutant Npc1 mice by correcting cholesterol mislocalization.

This study shows that lysosomal storage diseases cause synaptic structure and neurotransmission defects before cognitive symptoms appear in mice and humans.

The paper identifies PPT1 substrates in mouse brains, showing depalmitoylation's role in disulfide bond formation and synaptic function, with over 100 novel substrates found.

The paper identifies four damaging SNPs in the GM2A gene, three of which are novel, and predicts their impact on protein structure and function, potentially contributing to AB variant of GM2 gangliosidosis.

This study identifies 42 novel non-synonymous SNPs in the HEXB gene potentially linked to Sandhoff disease using bioinformatics analysis.

The paper predicts 32 novel non-synonymous SNPs in the HEXA gene that may contribute to Tay-Sachs disease using bioinformatics tools.

The paper investigates the additive effect of genetic risk variants for Parkinson's disease and finds an unexpected rescue effect on neuronal function and survival in zebrafish with combined GCase and ASM deficiency.

This study shows that Cln7 regulates synaptic growth and function in Drosophila, with implications for neuronal ceroid lipofuscinosis pathology.

This study shows arimoclomol improves GCase function in GD models by enhancing its folding, maturation, activity, and localization.