Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.R1041*
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SPG11

NM_025137.4:p.R1041*

Associated Papers

Longitudinal Dynamics of Plasma Neurofilament Light Chain in Hereditary Spastic Paraplegia Type 11 (HSP-SPG11) and Type 15 (HSP-ZFYVE26).

Agianda HAP et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

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 › SPG11

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

Late-onset spastic paraplegia: Aberrant SPG11 transcripts generated by a novel splice site donor mutation.

Kawarai T et al.

Journal of the Neurological Sciences, 2015

Hereditary spastic paraplegia type 11 with a very late onset.

Rubegni A et al.

Journal of Neurology, 2015

Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia.

Peddareddygari LR et al.

Case Reports in Genetics, 2015

Cognitive profile in spastic paraplegia with thin corpus callosum and mutations in SPG11.

Siri L et al.

Neuropediatrics, 2010

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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."