Varaico: Literature-Extracted Genetic Variants

Gene:CTSD
Variant:p.Y255insFs
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CTSD

NM_001909.5:p.Y255insFs

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

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

De Pasquale V et al.

Cells, 2020

The Role of Cathepsin D in the Pathogenesis of Human Neurodegenerative Disorders.

Vidoni C et al.

Medicinal Research Reviews, 2016

Cathepsin D expression level affects alpha-synuclein processing, aggregation, and toxicity in vivo.

Cullen V et al.

Molecular Brain, 2009

Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10).

Fritchie K et al.

Acta Neuropathologica, 2009

Diagnosis of neuronal ceroid lipofuscinosis: mutation detection strategies.

Getty AL et al.

Expert Opinion on Medical Diagnostics, 2007

Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis.

Siintola E et al.

Brain : a Journal of Neurology, 2006

Cathepsin D deficiency and NCL/Batten disease: there's more to death than apoptosis.

Shacka JJ et al.

Autophagy, 0

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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."