Lilu Guo

RNA Editing of DEGS1 Links Genetic Risk to Ceramide Dysregulation and Astrocyte Toxicity in ALS

Elovl1 inhibition reduced very long chain fatty acids in a mouse model of adrenoleukodystrophy

The paper inhibits Elovl1 in a mouse model of ALD to reduce VLCFA accumulation, finding it corrects lipid pathways but also causes unexpected transcriptional changes.

AAV gene therapy for GBA-PD and Gaucher Disease

This paper describes an AAV-mediated gene therapy strategy for GBA1-PD and Gaucher Disease, demonstrating robust GCase replenishment and cross-correction in preclinical models.

AAV-mediated ARSA replacement for the treatment of Metachromatic Leukodystrophy

This study develops an AAV vector for ARSA gene replacement in MLD, showing improved brain biodistribution and therapeutic effects in mice and non-human primates.

Unravelling neuronal and glial differences in ceramide composition, synthesis, and sensitivity to toxicity

The paper shows human iPSC-derived neurons and glia differ in ceramide synthesis, composition, and toxicity sensitivity, linking these differences to inflammation, ER stress, and apoptosis.

Osteonecrosis in Gaucher Disease in the era of multiple therapies: biomarker set for risk stratification from a tertiary referral center

This study identifies biomarkers predicting avascular osteonecrosis risk in Gaucher disease patients on enzyme replacement or substrate reduction therapy.

Microglia ferroptosis is prevalent in neurodegenerative disease and regulated by SEC24B

The paper shows microglia are susceptible to ferroptosis in neurodegenerative diseases and identifies SEC24B and small molecules that regulate this process.