Associated Papers
Maspardin/SPG21 controls lysosome motility and TFEB phosphorylation through RAB7 positioning.
Jacqmin T et al.
The Journal of Cell Biology, 2026
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
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