Clarissa D. Booth

CLN6 is a glycerophosphoglycerol epimerase in bis(monoacylglycero)phosphate biosynthesis

This study identifies CLN6 as a glycerophosphoglycerol epimerase essential for BMP biosynthesis, showing its deficiency disrupts lysosomal hydrolase homeostasis and can be reversed by BMP precursor supplementation.

Stereospecific GPG acylation by CLN8 drives BMP biosynthesis and its loss leads to Batten disease

This study identifies CLN8 as a stereospecific GPG acyltransferase critical for BMP biosynthesis, showing its loss causes Batten disease and that S,S-LPG supplementation can restore BMP and improve neurological symptoms.

Therapeutic antisense oligonucleotide mitigates retinal dysfunction in a pig model of CLN3 Batten disease

A splice-switching antisense oligonucleotide delivered via intravitreal injection mitigates early retinal dysfunction in a pig model of CLN3 Batten disease.

Genetic and cellular basis of impaired phagocytosis and photoreceptor degeneration in CLN3 disease.

This study investigates how CLN3 mutations impair phagocytosis and cause photoreceptor degeneration in CLN3 disease using patient-derived cells and a miniswine model.

Sortilin inhibition treats multiple neurodegenerative lysosomal storage disorders.

This study shows that sortilin inhibition with AF38469 improves lysosomal and glial pathology in multiple Batten disease models.

High-resolution promoter interaction analysis implicates genes involved in the activation of Type 3 Innate Lymphoid Cells in autoimmune disease risk

The paper maps promoter interactions in human ILC3s using PCHi-C and links GWAS risk variants to target genes, identifying new autoimmune disease risk genes.

AAV9 gene therapy restores lifespan and treats pathological and behavioral abnormalities in a mouse model of CLN8-Batten disease

This study shows that AAV9 gene therapy in a mouse model of CLN8-Batten disease improves lifespan, reduces pathology, and reverses behavioral issues.