ArticleAmerican journal of human genetics2002
Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03285425 (Natural History Study of Batten's CLN6 Disease), which is not on this map. Cited by 67 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.
Natural History Study of Batten's CLN6 Disease
Who cites it
67 citing papers in PubMed, 223 citations in OpenAlex.
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- Molecular characterization of recessively inherited ataxic and neuropathic disorders in consanguineous Pakistani families.Scientific reports · 2026Article
- Expanded Phenotype of theCells · 2025Article
- Neuronal Ceroid Lipofuscinosis-Concepts, Classification, and Avenues for Therapy.CNS neuroscience & therapeutics · 2025Review
- Review
- Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.International journal of molecular sciences · 2023Article
- Exposure to SARS-CoV-2 and Infantile Diseases.Global medical genetics · 2023Article
- Recent Insight into the Genetic Basis, Clinical Features, and Diagnostic Methods for Neuronal Ceroid Lipofuscinosis.International journal of molecular sciences · 2022Review
- Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.Orphanet journal of rare diseases · 2022Article
- Efficient progranulin exit from the ER requires its interaction with prosaposin, a Surf4 cargo.The Journal of cell biology · 2022Article
- Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica's experience.Orphanet journal of rare diseases · 2022Article
- Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview.Frontiers in neurology · 2022Review
- Safeguarding Lysosomal Homeostasis by DNAJC5/CSPα-Mediated Unconventional Protein Secretion and Endosomal Microautophagy.Frontiers in cell and developmental biology · 2022Review
- Retinal degeneration in mice and humans with neuronal ceroid lipofuscinosis type 8.Annals of translational medicine · 2021Article
- Review
- The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses.Frontiers in neurology · 2021Review
- A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer.The Journal of clinical investigation · 2020Article
- Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force.Movement disorders : official journal of the Movement Disorder Society · 2019Review
- Gene Therapy Corrects Brain and Behavioral Pathologies in CLN6-Batten Disease.Molecular therapy : the journal of the American Society of Gene Therapy · 2019Article
- A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing.Journal of human genetics · 2019Article
7 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
16 authors at 5 institutions in 1 country.
Funding
Abstract
The CLN6 gene that causes variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), a recessively inherited neurodegenerative disease that features blindness, seizures, and cognitive decline, maps to 15q21-23. We have used multiallele markers spanning this approximately 4-Mb candidate interval to reveal a core haplotype, shared in Costa Rican families with vLINCL but not in a Venezuelan kindred, that highlighted a region likely to contain the CLN6 defect. Systematic comparison of genes from the minimal region uncovered a novel candidate, FLJ20561, that exhibited DNA sequence changes specific to the different disease chromosomes: a G-->T transversion in exon 3, introducing a stop codon on the Costa Rican haplotype, and a codon deletion in exon 5, eliminating a conserved tyrosine residue on the Venezuelan chromosome. Furthermore, sequencing of the murine homologue in the nclf mouse, which manifests recessive NCL-like disease, disclosed a third lesion-an extra base pair in exon 4, producing a frameshift truncation on the nclf chromosome. Thus, the novel approximately 36-kD CLN6-gene product augments an intriguing set of unrelated membrane-spanning proteins, whose deficiency causes NCL in mouse and man.
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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.