Associated Papers
Maspardin/SPG21 controls lysosome motility and TFEB phosphorylation through RAB7 positioning.
Jacqmin T et al.
The Journal of Cell Biology, 2026
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG21
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
31028937 (PubMed )
Supplement: mmc1.xlsx › SuppTable1_VariantsPanel
Loss of Maspardin Attenuates the Growth and Maturation of Mouse Cortical Neurons.
Davenport A et al.
Neuro-degenerative Diseases, 2016
Targeted disruption of the Mast syndrome gene SPG21 in mice impairs hind limb function and alters axon branching in cultured cortical neurons.
Soderblom C et al.
Neurogenetics, 2010
Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1.
Hanna MC et al.
Neurogenetics, 2009
Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia.
Simpson MA et al.
American Journal of Human Genetics, 2003
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