ArticleJournal of inherited metabolic disease1996
Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses.
Article in Journal of inherited metabolic disease, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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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.
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2 citing papers in PubMed, 10 citations in OpenAlex.
- Murine cathepsin F deficiency causes neuronal lipofuscinosis and late-onset neurological disease.Molecular and cellular biology · 2006Article
- The neuronal ceroid-lipofuscinoses (Batten disease): a new class of lysosomal storage diseases.Journal of inherited metabolic disease · 1999Review
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1 author at 1 institution in 1 country.
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Abstract
Major advances in the molecular genetic analysis of the neuronal ceroid lipofuscinoses (NCL) have recently been made: the genes for two major types have been identified and the chromosomal location for a third defined. CLN1, the gene for infantile NCL (Santavuori-Haltia disease) encodes palmitoyl protein thioesterase (PPT). Most patients (75% of disease chromosomes) have the same point mutation. In contrast, CLN3, the gene for juvenile NCL (Batten or Spielmeyer-Vogt-Sjögren disease) is not a previously known gene, nor does its product display homology to any previously described proteins. The same 1 kb genomic deletion is present in the majority of patients (81% of disease chromosomes). CLN5, the gene for Finnish variant late infantile NCL, has been mapped to 13q and should be identified in the near future. The gene for late-infantile NCL (Jansky-Bielschowsky disease) has not yet been localized to a chromosome despite intensive research. It is likely that this type of NCL is caused by mutations in more than one gene each resulting in the same phenotype.
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