Varaico: Literature-Extracted Genetic Variants

Gene:ZFYVE26
Variant:p.L243P
Back to variants list

ZFYVE26

NM_015346.4:p.L243P

Associated Papers

Naringenin and SMER28 target lysosomal reformation and rescue SPG11 and SPG15 hereditary spastic paraplegia phenotypes.

Vantaggiato C et al.

Pharmacological Research, 2025

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG15

Rescue of lysosomal function as therapeutic strategy for SPG15 hereditary spastic paraplegia.

Vantaggiato C et al.

Brain : a Journal of Neurology, 2023

Case report: Hereditary spastic paraplegia with a novel homozygous mutation in ZFYVE26.

Lai ZH et al.

Frontiers in Neurology, 2023

37681008 (PubMed )
Supplement: Data_Sheet_1.xlsx › Sheet1

ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis.

Vantaggiato C et al.

Autophagy, 2019

Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation.

Chang J et al.

The Journal of Clinical Investigation, 2014

Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15.

Vantaggiato C et al.

Brain : a Journal of Neurology, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."