ReviewNeuromolecular medicine2002
The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease.
Review in Neuromolecular medicine, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 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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Who cites it
22 citing papers in PubMed, 69 citations in OpenAlex.
- TOR-dependent regulation of the yeast homolog of the juvenile Batten Disease-associated geneMicrobial cell (Graz, Austria) · 2026Article
- A recessiveJournal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc · 2024Article
- Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation.Nature communications · 2023Article
- Mechanisms regulating the sorting of soluble lysosomal proteins.Bioscience reports · 2022Review
- Molecular networking in the neuronal ceroid lipofuscinoses: insights from mammalian models and the social amoeba Dictyostelium discoideum.Journal of biomedical science · 2020Review
- Therapeutic landscape for Batten disease: current treatments and future prospects.Nature reviews. Neurology · 2019Review
- Compromised astrocyte function and survival negatively impact neurons in infantile neuronal ceroid lipofuscinosis.Acta neuropathologica communications · 2018Article
- 15-Deoxy-ΔFrontiers in immunology · 2016Article
- Multi-step preparation technique to recover multiple metabolite compound classes for in-depth and informative metabolomic analysis.Journal of visualized experiments : JoVE · 2014Article
- Methodology of clinical research in rare diseases: development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates.Contemporary clinical trials · 2013Article
- Alterations in ROS activity and lysosomal pH account for distinct patterns of macroautophagy in LINCL and JNCL fibroblasts.PloS one · 2013Article
- Loss of lysosomal ion channel transient receptor potential channel mucolipin-1 (TRPML1) leads to cathepsin B-dependent apoptosis.The Journal of biological chemistry · 2012Article
- Aberrant Ca2+ handling in lysosomal storage disorders.Cell calcium · 2010Review
- Spectral properties and mechanisms that underlie autofluorescent accumulations in Batten disease.Biochemical and biophysical research communications · 2009Article
- Neuronal pigmented autophagic vacuoles: lipofuscin, neuromelanin, and ceroid as macroautophagic responses during aging and disease.Journal of neurochemistry · 2008Review
- Analysis of NCL Proteins from an Evolutionary Standpoint.Current genomics · 2008Article
- Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.Neurogenetics · 2006Article
- Embryonic stem cell-derived neural progenitors incorporate into degenerating retina and enhance survival of host photoreceptors.Stem cells (Dayton, Ohio) · 2006Article
- Channeling studies in yeast: yeast as a model for channelopathies?Neuromolecular medicine · 2006Review
- Homogeneous polymerase chain reaction nucleobase quenching assay to detect the 1-kbp deletion in CLN3 that causes Batten disease.The Journal of molecular diagnostics : JMD · 2004Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
The neuronal ceroid-lipofuscinoses (NCL) are the most common group of progressive neurodegenerative diseases in children, with an incidence as high as one in 12,500 live births. The main features of this disease are failure of psychomotor development, impaired vision, seizures, and premature death. Many biochemical and physiological studies have been initiated to determine the cellular defect underlying the disease, although only a few traits have been truly associated with the disorders. One of the paradox's of the NCL-diseases is the characteristic accumulation of autofluorescent hydrophobic material in the lysosomes of neurons and other cell types. However, the accumulation of this lysosomal storage material, which no doubt contributes to the neurologic disease, does not apparently lead to disease outside the CNS, and how these cellular alterations relate to the neurodegeneration in NCLs is unknown. Mutations have been identified in six distinct genes/proteins, namely CLN1, which encodes PPT1, a protein thiolesterase; CLN2, which encodes TPP1, a serine protease; and CLN3, CLN5, CLN6, and CLN8, which encode novel transmembrane proteins. Mutation in any one of these CLN-proteins results in a distinct type of NCL-disease. However, there are many shared similarities in the pathology of these diseases. The most obvious connection between PPT1, TPP1, CLN3, CLN5, CLN6, and CLN8 is their subcellular localization. To date, three of the four proteins whose subcellular localization has been confirmed, namely PPT1, TPP1, and CLN3, reside in the lysosome. We review the function of the CLN-proteins and discuss the possibility that a disruption in a common biological process leads to an NCL-disease.
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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.