Varaico: Literature-Extracted Genetic Variants

Gene:ZFYVE26
Variant:p.S1312*
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ZFYVE26

NM_015346.4:p.S1312*

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

The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.

Saffari A et al.

Brain : a Journal of Neurology, 2023

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

Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study.

Martinuzzi A et al.

Plos One, 2016

27077743 (PubMed )
Supplement: pone.0153283.s002.pdf

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.

Pensato V et al.

Brain : a Journal of Neurology, 2014

ZFYVE26/SPASTIZIN: a close link between complicated hereditary spastic paraparesis and autophagy.

Vantaggiato C et al.

Autophagy, 2014

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

Vantaggiato C et al.

Brain : a Journal of Neurology, 2013

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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."