ReviewJournal of inherited metabolic disease1999
The neuronal ceroid-lipofuscinoses (Batten disease): a new class of lysosomal storage diseases.
Review in Journal of inherited metabolic disease, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
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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
21 citing papers in PubMed, 57 citations in OpenAlex.
- Conversion of a ventricular rickham reservoir to a subcutaneous chest port for repeated intraventricular enzyme replacement therapy: technical note and surgical considerations.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Article
- Distinct Auditory Thalamocortical Pathologies Underlie Emerging Neurophysiological Dysfunction in a Cln3 Mouse Model of Batten Disease.bioRxiv : the preprint server for biology · 2026Article
- PPT1 selectively depalmitoylates GAP43 to regulate neuronal excitability and cognitive function.Science advances · 2026Article
- Review
- The Role of Visual Electrophysiology in Systemic Hereditary Syndromes.International journal of molecular sciences · 2025Review
- Milasen: The Emerging Era of Patient-Customized N-of-1 Antisense Oligonucleotides as Therapeutic Agents for Genetic Diseases.Methods in molecular biology (Clifton, N.J.) · 2025Review
- An Overview of Canine Inherited Neurological Disorders with Known Causal Variants.Animals : an open access journal from MDPI · 2023Review
- Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation.Nature communications · 2023Article
- Emerging Perspectives on Gene Therapy Delivery for Neurodegenerative and Neuromuscular Disorders.Journal of personalized medicine · 2022Review
- Promoter considerations in the design of lentiviral vectors for use in treating lysosomal storage diseases.Molecular therapy. Methods & clinical development · 2022Review
- Developmental NMDA receptor dysregulation in the infantile neuronal ceroid lipofuscinosis mouse model.eLife · 2019Article
- Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.Human mutation · 2019Article
- Complex StructuralG3 (Bethesda, Md.) · 2019Article
- Autophagy-lysosome pathway alterations and alpha-synuclein up-regulation in the subtype of neuronal ceroid lipofuscinosis, CLN5 disease.Scientific reports · 2019Article
- Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.Experimental cell research · 2015Article
- Mesenchymal stem cells as cellular vectors for pediatric neurological disorders.Brain research · 2014Review
- The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5.PloS one · 2013Article
- A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund.Molecular genetics and metabolism · 2010Article
- Neurodevelopmental delay in the Cln3Deltaex7/8 mouse model for Batten disease.Genes, brain, and behavior · 2009Article
- Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.American journal of human genetics · 2002Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
The neuronal ceroid-lipofuscinoses (Batten disease) are a group of severe neurodegenerative disorders characterized clinically by visual loss, seizures and psychomotor degeneration, and pathologically by loss of neurons and lysosomal accumulation of autofluorescent storage material resembling ageing pigment. To date, eight genetic loci have been identified (CLN1-8). Four CLN genes have been isolated (CLN1, CLN2, CLN3 and CLN5) and their gene products have been characterized. CLN1 is a lysosomal palmitoyl-protein thioesterase (PPT) and CLN2 is a lysosomal pepstatin-insensitive peptidase. CLN3 and CLN5 are proteins with multiple membrane-spanning regions and have no homologies to other proteins that would suggest their function. The CLN3 protein is associated with lysosomal membranes and the intracellular location of the CLN5 protein is unknown. Therefore, there is ample evidence that the neuronal ceroid-lipofuscinoses represent a new class of lysosomal storage disorders.
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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.