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
Identification of a large homozygous SPG21 deletion in a Chinese patient with Mast syndrome.
Xue YY et al.
Cns Neuroscience & Therapeutics, 2021
Exome sequencing reveals a novel homozygous mutation in ACP33 gene in the first Italian family with SPG21.
Scarlato M et al.
Journal of Neurology, 2017
Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.
Ishiura H et al.
Journal of Human Genetics, 2016
Loss of Maspardin Attenuates the Growth and Maturation of Mouse Cortical Neurons.
Davenport A et al.
Neuro-degenerative Diseases, 2016
Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.
Ishiura H et al.
Journal of Human Genetics, 2014
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