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
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
The Role of Cathepsin D in the Pathogenesis of Human Neurodegenerative Disorders.
Vidoni C et al.
Medicinal Research Reviews, 2016
Cell biology of the NCL proteins: What they do and don't do.
Cárcel-Trullols J et al.
Biochimica Et Biophysica Acta, 2015
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
Kousi M et al.
Human Mutation, 2012
Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function.
Getty AL et al.
Cellular and Molecular Life Sciences : Cmls, 2011
Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10).
Fritchie K et al.
Acta Neuropathologica, 2009
Molecular genetics of the NCLs -- status and perspectives.
Siintola E et al.
Biochimica Et Biophysica Acta, 2006
Cathepsin D deficiency is associated with a human neurodegenerative disorder.
Steinfeld R et al.
American Journal of Human Genetics, 2006
Pro-cathepsin D prevents aberrant protein aggregation dependent on endoplasmic reticulum protein CLN6.
Shiro Y et al.
Molecular Genetics and Metabolism, 0
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