lysosomal storage disorders
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Lysosomal storage disorders and their unanticipated links to rare and common diseases
Lysosomal storage diseases are a group of over 70 inherited metabolic disorders, many of which have a neurodegenerative clinical course. Treatments have been developed for a subset of these disorders and are now in routine clinical use. We have found that some neurological and neurodegenerative diseases share unanticipated links to lysosomal storage diseases providing insights into disease pathogenesis. These links also suggest treatments developed for lysosomal disorders may have unanticipated utility in other rare and common diseases.
Common patterns of schizophrenia and lysosomal storage disorders
Developmental delay in striatal synaptic pruning in lysosomal storage disorders
FENS Forum 2024
Dopaminergic treatments for autistic-like behaviour in lysosomal storage disorders: Preclinical and clinical evidence
FENS Forum 2024
Pharmacological stimulation of autophagy to rescue proteinopathy and cognitive decline in lysosomal storage disorders
FENS Forum 2024
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