| Kasparas Petkevicius | Batten disease genes drive the biosynthesis of bis(monoacylglycero)phosphate |
| Christopher Minnis | Targeted long-read RNA sequencing reveals the complexity of CLN3 transcription and the consequences of the most common 1-kb deletion in patients with juvenile CLN3 disease |
| Stephane Lefrancois | CLN3 palmitoylation is required for its role in sorting |
| Ewa A Ziółkowska | Histopathological characterization of brainstem degeneration in CLN1, CLN2, and CLN3 mouse models |
| Stephan Storch | Mistargeting and ER retention of CLN7 patient-associated nonsense and sequence deletion mutations as a novel cause for CLN7 disease |
| Adelene SL Chiam | Pieces of a puzzle: How does CLN3 disease impact the blood-brain barrier? |
| Mirta ML Sousa | Patient-derived retinal, cortical and neuromuscular junction organoids reveal tissue-specific pathomechanisms in CLN3 Batten disease |
| Katherine N Lyons | Single cell RNA-sequencing reveals the impact of CLN1 disease and treatment upon microglia in the brain and spinal cord. |
| Tereza Vecerkova | Structural studies of selected Batten disease proteins |
| Zhihao Wu | Key genes in the RQC pathway affect CLN10-related neuromuscular degeneration in a Drosophila model |
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Maree McCabe |
TBC |
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Mark Sands |
Carriers of Lysosomal Enzyme Gene Defects: Risk for Adult-Onset Neurodegenerative Disease? |
|
Elina Casoli |
Investigating drug repurposing in childhood dementia using patient-derived cell models |
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Julia C. Heiby |
Cell-Type Resolved Protein Atlas of Brain Lysosomes Identifies SLC45A1-Associated Disease as a Lysosomal Disorder |
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Anthony Cook |
Head-to-head comparison of existing and novel UGCG/GCS inhibitors in human cell models of lysosomal storage disorders |
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Ya Hui Hung |
An mRNA Gene Therapy Platform for Childhood Dementia: Initial findings with Niemann-Pick C and ongoing challenges |
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Karissa Bartheloson |
Applying network biology to understand the commonalities between adult- and childhood-onset dementia |
|
Ewa A Ziółkowska |
Systemic AAV9 gene therapy mitigates neuromuscular junction degeneration and muscle atrophy in CLN1 disease |
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Jonathan D Cooper |
Efficacy of AAV-mediated gene therapy in a sheep model of CLN1 disease |
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Jill M Weimer |
Cardiac dysfunction in a CLN2 Batten disease mouse model |
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Nadia L Mitchell |
Dual CLN5/CLN6 gene therapy improves clinical outcomes in a large animal model of CLN6 Batten Disease |