Varaico: Literature-Extracted Genetic Variants

Gene:CTSD
Variant:p.F229I
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CTSD

NM_001909.5:p.F229I

Associated Papers

Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.

Gagoski D et al.

Protein Science : a Publication of the Protein Society, 2025

41088778 (PubMed )
Supplement: PRO-34-e70317-s008.xlsx › _S6_-_PTMVar_-_Grb2

Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.

Gagoski D et al.

Biorxiv : the Preprint Server for Biology, 2025

39764007 (PubMed )
Supplement: media-1.xlsx › _S6_-_PTMVar_-_Grb2

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

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder.

Varvagiannis K et al.

Neuropediatrics, 2018

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

Lysosomal enzyme cathepsin D protects against alpha-synuclein aggregation and toxicity.

Qiao L et al.

Molecular Brain, 2008

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 is associated with a human neurodegenerative disorder.

Steinfeld R et al.

American Journal of Human Genetics, 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."