Associated Papers
A Novel Variant of the CTSD Gene Associated with Juvenile-onset Neuronal Ceroid Lipofuscinosis Type 10: A Case Report and Literature Review.
Çiçek S et al.
Cerebellum (london, England), 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
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
Inherited diseases caused by mutations in cathepsin protease genes.
Ketterer S et al.
The Febs Journal, 2017
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