Varaico: Literature-Extracted Genetic Variants

Gene:CTSD
Variant:p.Y255*
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CTSD

NM_001909.5:p.Y255*

Associated Papers

Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.

Chartier S et al.

Birth Defects Research, 2021

Cathepsin D Variants Associated With Neurodegenerative Diseases Show Dysregulated Functionality and Modified α-Synuclein Degradation Properties.

Bunk J et al.

Frontiers in Cell and Developmental Biology, 2021

Corrigendum: Cathepsin D Variants Associated With Neurodegenerative Diseases Show Dysregulated Functionality and Modified α-Synuclein Degradation Properties.

Bunk J et al.

Frontiers in Cell and Developmental Biology, 2021

Cathepsins in the Pathophysiology of Mucopolysaccharidoses: New Perspectives for Therapy.

De Pasquale V et al.

Cells, 2020

Analysis of NCL Proteins from an Evolutionary Standpoint.

Muzaffar NE et al.

Current Genomics, 2008

Molecular genetics of the NCLs -- status and perspectives.

Siintola E et al.

Biochimica Et Biophysica Acta, 2006

Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis.

Siintola E et al.

Brain : a Journal of Neurology, 2006

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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."