Presynaptic Dysfunction in Neurons Derived from Tay–Sachs iPSCs

Inborn errors of metabolism: Lessons from iPSC models

Modeling neuronopathic storage diseases with patient-derived culture systems. - Abstract - Europe PMC

IJMS, Free Full-Text

Presynaptic Dysfunction in Neurons Derived from Tay–Sachs iPSCs - ScienceDirect

Frontiers Aberrant Autophagy Impacts Growth and Multicellular Development in a Dictyostelium Knockout Model of CLN5 Disease

Presynaptic dysfunction in neurodevelopmental disorders: Insights from the synaptic vesicle life cycle - Bonnycastle - 2021 - Journal of Neurochemistry - Wiley Online Library

A case of infantile Tay-Sachs disease with late onset spasms - ScienceDirect

JCI Insight - Early defects in mucopolysaccharidosis type IIIC disrupt excitatory synaptic transmission

Full article: Ischemia-induced upregulation of autophagy preludes dysfunctional lysosomal storage and associated synaptic impairments in neurons