Associated Papers
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
Lysosomal genes contribute to Parkinson's disease near agriculture with high intensity pesticide use.
Ngo KJ et al.
Npj Parkinson's Disease, 2024
Hunting for the elusive target antigen in gestational alloimmune liver disease (GALD).
Rieneck K et al.
Plos One, 2023
Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms.
Pape K et al.
Cancers, 2022
The role of lysosomal cathepsins in neurodegeneration: Mechanistic insights, diagnostic potential and therapeutic approaches.
Drobny A et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2022
The c.863A>G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 disease.
Yang J et al.
Molecular Genetics & Genomic Medicine, 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
A Novel CLN6 Variant Associated With Juvenile Neuronal Ceroid Lipofuscinosis in Patients With Absence of Visual Loss as a Presenting Feature.
Nicolaou P et al.
Frontiers in Genetics, 2021
Cathepsin D regulates cerebral Aβ42/40 ratios via differential degradation of Aβ42 and Aβ40.
Suire CN et al.
Alzheimer's Research & Therapy, 2020
Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.
Blumenau S et al.
Scientific Reports, 2020
Role of Apolipoprotein E, Cathepsin D, and Brain-Derived Neurotrophic Factor in Parkinson's Disease: A Study from Eastern India.
Pal P et al.
Neuromolecular Medicine, 2019
Cathepsin D Polymorphism C224T in Childhood-Onset Neurodegenerative Disorders: No Impact for Childhood Dementia.
Kettwig M et al.
Journal of Pediatric Genetics, 2018
Absence of association of the Ala58Val (rs17571) CTSD gene variant with Parkinson's disease or amyotrophic lateral sclerosis in a Han Chinese population.
Xi J et al.
Neuroscience Letters, 2018
The Role of Cathepsin D in the Pathogenesis of Human Neurodegenerative Disorders.
Vidoni C et al.
Medicinal Research Reviews, 2016
Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).
Berkovic SF et al.
Neurology, 2016
Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.
Sassi C et al.
Plos One, 2016
The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina.
Kohan R et al.
Biochimica Et Biophysica Acta, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Familial Alzheimer's disease-associated presenilin-1 alters cerebellar activity and calcium homeostasis.
Sepulveda-Falla D et al.
The Journal of Clinical Investigation, 2014
Lipoprotein lipase deficiency: clinical, biochemical and molecular characteristics in three patients with novel mutations in the LPL gene.
Kolářová H et al.
Folia Biologica, 2014
Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a cathepsin D variant p.A58V.
Ehling R et al.
Journal of the Neurological Sciences, 2013
Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships.
Larner AJ
Journal of Alzheimer's Disease : Jad, 2013
A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.
Harris SE et al.
Bmc Genetics, 2007
The cathepsin D gene exon 2 (C224T) polymorphism and sporadic Alzheimer's disease in European populations.
Capurso C et al.
The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences, 2005
Cathepsin D: screening for new polymorphisms using single-strand conformation polymorphism analysis.
Majores M et al.
International Journal of Molecular Medicine, 2002
Pro-cathepsin D prevents aberrant protein aggregation dependent on endoplasmic reticulum protein CLN6.
Shiro Y et al.
Molecular Genetics and Metabolism, 0