TopicNeuro
lysosomal storage disorders
3 ePosters1 Seminar
Latest
SeminarNeuroscience
Lysosomal storage disorders and their unanticipated links to rare and common diseases
Frances Platt
University of Oxford
Feb 8, 2021
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.
ePosterNeuroscience
Developmental delay in striatal synaptic pruning in lysosomal storage disorders
Mariagrazia Monaco, Cristina Somma, Alessandro Nicois, Maria de Risi, Luigia Cristino, Elvira de Leonibus
FENS Forum 2024
ePosterNeuroscience
Dopaminergic treatments for autistic-like behaviour in lysosomal storage disorders: Preclinical and clinical evidence
Maria De Risi, Lorenzo Cusimano, Xabier Bujanda Cundin, Mariateresa Pizzo, Simona Fecarotta, Giancarlo Parenti, Elvira De Leonibus
FENS Forum 2024
ePosterNeuroscience
Pharmacological stimulation of autophagy to rescue proteinopathy and cognitive decline in lysosomal storage disorders
Cristina Somma, Mariagrazia Monaco, Antonella Capuozzo, Diego Luis Medina, Maria de Risi, Elvira de Leonibus
FENS Forum 2024
lysosomal storage disorders coverage
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ePoster3
Seminar1
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