Associated Papers
Modeling spastic paraplegia 4 with corticospinal motor neuron-enriched cortical organoids reveals genotype-phenotype and HDAC6-targetable pathology.
Mohan N et al.
Cell Reports, 2026
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG4
Spastin MIT Domain Disease-Associated Mutations Disrupt Lysosomal Function.
Allison R et al.
Frontiers in Neuroscience, 2019
Mutant spastin proteins promote deficits in axonal transport through an isoform-specific mechanism involving casein kinase 2 activation.
Leo L et al.
Human Molecular Genetics, 2017
Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia.
Solowska JM et al.
Human Molecular Genetics, 2010
Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.
Patrono C et al.
Human Mutation, 2005
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