ArticleThe EMBO journal2000
A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration.
Article in The EMBO journal, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 76 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
76 citing papers in PubMed, 242 citations in OpenAlex.
- Morphometric Brain Changes in a Merino Sheep (Biology · 2026Article
- Taliglucerase Alfa Reduces Amyloid-β Burden by Restoring Autophagic Pathways in a Neuronal Model of Alzheimer's Disease.Neurochemical research · 2026Article
- Modular inflammation network discovery from large-scale phenotypic screening in genetically heterogeneous mouse brains.Journal of neuroinflammation · 2025Article
- Prominent tauopathy and intracellular β-amyloid accumulation triggered by genetic deletion of cathepsin D: implications for Alzheimer disease pathogenesis.Alzheimer's research & therapy · 2024Article
- Cathepsin D: A Candidate Link between Amyloid β-protein and Tauopathy in Alzheimer Disease.Journal of experimental neurology · 2021Article
- Aberrant Autophagy Impacts Growth and Multicellular Development in aFrontiers in cell and developmental biology · 2021Article
- Neuronal Ceroid Lipofuscinosis in a Domestic Cat Associated with a DNA Sequence Variant That Creates a Premature Stop Codon inG3 (Bethesda, Md.) · 2020Article
- Cathepsin D regulates cerebral Aβ42/40 ratios via differential degradation of Aβ42 and Aβ40.Alzheimer's research & therapy · 2020Article
- Lysosomal Dysfunction in Down Syndrome Is APP-Dependent and Mediated by APP-βCTF (C99).The Journal of neuroscience : the official journal of the Society for Neuroscience · 2019Article
- Progranulin Stimulates the In Vitro Maturation of Pro-Cathepsin D at Acidic pH.Journal of molecular biology · 2019Article
- Emerging new roles of the lysosome and neuronal ceroid lipofuscinoses.Molecular neurodegeneration · 2019Review
- Advances in the Treatment of Neuronal Ceroid Lipofuscinosis.Expert opinion on orphan drugs · 2019Article
- Dysfunction of autophagy and endosomal-lysosomal pathways: Roles in pathogenesis of Down syndrome and Alzheimer's Disease.Free radical biology & medicine · 2018Review
- Progranulin-mediated deficiency of cathepsin D results in FTD and NCL-like phenotypes in neurons derived from FTD patients.Human molecular genetics · 2017Article
- Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions.Neurobiology of disease · 2017Review
- Accounting for Protein Subcellular Localization: A Compartmental Map of the Rat Liver Proteome.Molecular & cellular proteomics : MCP · 2017Article
- Homozygous PPT1 Splice Donor Mutation in a Cane Corso Dog With Neuronal Ceroid Lipofuscinosis.Journal of veterinary internal medicine · 2017Article
- Chemoproteomic profiling reveals that cathepsin D off-target activity drives ocular toxicity of β-secretase inhibitors.Nature communications · 2016Article
- The history of progressive myoclonus epilepsies.Epileptic disorders : international epilepsy journal with videotape · 2016Review
- Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD.Journal of neurology · 2016Article
16 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
The neuronal ceroid lipofuscinoses (NCLs) constitute a group of neurodegenerative storage diseases characterized by progressive psychomotor retardation, blindness and premature death. Pathologically, there is accumulation of autofluorescent material in lysosome-derived organelles in a variety of cell types, but neurons in the central nervous system appear to be selectively affected and undergo progressive death. In this report we show that a novel form of NCL, congenital ovine NCL, is caused by a deficiency in the lysosomal aspartyl proteinase cathepsin D. A single nucleotide mutation in the cathepsin D gene results in conversion of an active site aspartate to asparagine, leading to production of an enzymatically inactive but stable protein. This results in severe cerebrocortical atrophy and early death, providing strong evidence for an important role of cathepsin D in neuronal development and/or homeostasis.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.