Jill M. Weimer

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.

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.

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

This study creates a BPAN patient-inspired mouse model with a Wdr45 mutation, revealing motor dysfunction, axon terminal abnormalities, and disrupted pathways in the brain.

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

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

This paper presents a novel porcine model of CLN3 Batten disease that recapitulates clinical phenotypes observed in humans.

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.

This study identifies a shared protein network involving Batten disease proteins that regulates synaptic composition and function through interactions with vesicle sorting proteins.

This study identifies a novel CCK complex involving CLN6, CRMP2, and KLC4 that regulates ER-derived vesicle transport in axons, with implications for neurodegenerative disease therapy.

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

The paper validates CNS-related antibodies in a miniswine model of neurofibromatosis type 1 to support translational research.

The paper uses a multimodal approach to identify clinically relevant parameters for tracking disease progression in a mouse model of Batten disease.

This study characterizes pain and sleep behaviors in a porcine model of NF1, identifying sex-dependent differences and potential therapeutic targets.