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Page 1
Experimental gene therapies for the NCLs.
Liu W, Kleine-Holthaus SM, Herranz-Martin S, Aristorena M, Mole SE, Smith AJ, Ali RR, Rahim AA. Liu W, et al. Biochim Biophys Acta Mol Basis Dis. 2020 Sep 1;1866(9):165772. doi: 10.1016/j.bbadis.2020.165772. Epub 2020 Mar 24. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 32220628 Free article. Review.
All NCLs are lethal and incurable and only one has an approved treatment available. To date, 13 NCL subtypes (CLN1-8, CLN10-14) have been identified, based on the particular disease-causing defective gene. ...
All NCLs are lethal and incurable and only one has an approved treatment available. To date, 13 NCL subtypes (CLN1-8, CLN10-14) have …
Neuronal Ceroid Lipofuscinosis: Potential for Targeted Therapy.
Specchio N, Ferretti A, Trivisano M, Pietrafusa N, Pepi C, Calabrese C, Livadiotti S, Simonetti A, Rossi P, Curatolo P, Vigevano F. Specchio N, et al. Drugs. 2021 Jan;81(1):101-123. doi: 10.1007/s40265-020-01440-7. Drugs. 2021. PMID: 33242182 Review.
Many treatments, including enzyme replacement therapy (for CLN1 and CLN2 diseases), stem-cell therapy (for CLN1, CLN2, and CLN8 diseases), gene therapy vector (for CLN1, CLN2, CLN3, CLN5, CLN6, CLN7, CLN10, and CLN11 diseases), and pharmacological drugs (for CLN1, CLN2, CL …
Many treatments, including enzyme replacement therapy (for CLN1 and CLN2 diseases), stem-cell therapy (for CLN1, CLN2, and CLN8 diseases), g …
The contribution of multicellular model organisms to neuronal ceroid lipofuscinosis research.
Huber RJ, Hughes SM, Liu W, Morgan A, Tuxworth RI, Russell C. Huber RJ, et al. Biochim Biophys Acta Mol Basis Dis. 2020 Sep 1;1866(9):165614. doi: 10.1016/j.bbadis.2019.165614. Epub 2019 Nov 26. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 31783156 Free article. Review.
Commonly known as Batten disease, this debilitating neurological disorder is comprised of 13 different subtypes that are categorized based on the particular gene that is mutated (CLN1-8, CLN10-14). The pathological mechanisms underlying the NCLs are not well understood due …
Commonly known as Batten disease, this debilitating neurological disorder is comprised of 13 different subtypes that are categorized based o …
The c.863A>G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 disease.
Yang J, Ding X, Meng S, Cai J, Zhou W. Yang J, et al. Mol Genet Genomic Med. 2021 Oct;9(10):e1777. doi: 10.1002/mgg3.1777. Epub 2021 Jul 31. Mol Genet Genomic Med. 2021. PMID: 34331747 Free PMC article.
Biallelic loss-of-function mutation of CTSD is considered a cause of CLN10 disease. CLN10 is a rare autosomal recessive disorder that is one of 14 types of neuronal ceroid lipofuscinoses (NCLs). To date, only a few cases of CLN10 and 12 disease-causing mutati …
Biallelic loss-of-function mutation of CTSD is considered a cause of CLN10 disease. CLN10 is a rare autosomal recessive disord …
Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.
Chartier S, Boutaud L, Le Guillou E, Alby C, Billon C, Millischer AE, Caillaud C, Galmiche L, Mechler C, Sonigo P, Boddaert N, Lyonnet S, Rondeau S, Bole-Feysot C, Masson C, Ville Y, Roth P, Desguerre I, Encha-Razavi F, Attie-Bitach T. Chartier S, et al. Birth Defects Res. 2021 Nov;113(18):1324-1332. doi: 10.1002/bdr2.1950. Epub 2021 Sep 7. Birth Defects Res. 2021. PMID: 34491000
They are classically due to mutations in the CTSD gene (the CLN10 disease). Affected newborns usually present severe microcephaly, seizures and respiratory failure leading to death within the first postnatal days or weeks. ...
They are classically due to mutations in the CTSD gene (the CLN10 disease). Affected newborns usually present severe microcephaly, se …
Patient-Derived Induced Pluripotent Stem Cell Models for Phenotypic Screening in the Neuronal Ceroid Lipofuscinoses.
Morsy A, Carmona AV, Trippier PC. Morsy A, et al. Molecules. 2021 Oct 15;26(20):6235. doi: 10.3390/molecules26206235. Molecules. 2021. PMID: 34684815 Free PMC article. Review.
Batten disease or neuronal ceroid lipofuscinosis (NCL) is a group of rare, fatal, inherited neurodegenerative lysosomal storage disorders. Numerous genes (CLN1-CLN8, CLN10-CLN14) were identified in which mutations can lead to NCL; however, the underlying pathophysiology re …
Batten disease or neuronal ceroid lipofuscinosis (NCL) is a group of rare, fatal, inherited neurodegenerative lysosomal storage disorders. N …
Using the social amoeba Dictyostelium to study the functions of proteins linked to neuronal ceroid lipofuscinosis.
Huber RJ. Huber RJ. J Biomed Sci. 2016 Nov 24;23(1):83. doi: 10.1186/s12929-016-0301-0. J Biomed Sci. 2016. PMID: 27881166 Free PMC article. Review.
The NCL family of proteins is comprised of lysosomal enzymes (PPT1/CLN1, TPP1/CLN2, CTSD/CLN10, CTSF/CLN13), proteins that peripherally associate with membranes (DNAJC5/CLN4, KCTD7/CLN14), a soluble lysosomal protein (CLN5), a protein present in the secretory pathway (PGRN …
The NCL family of proteins is comprised of lysosomal enzymes (PPT1/CLN1, TPP1/CLN2, CTSD/CLN10, CTSF/CLN13), proteins that peripheral …
Cln5 is secreted and functions as a glycoside hydrolase in Dictyostelium.
Huber RJ, Mathavarajah S. Huber RJ, et al. Cell Signal. 2018 Jan;42:236-248. doi: 10.1016/j.cellsig.2017.11.001. Epub 2017 Nov 8. Cell Signal. 2018. PMID: 29128403
A GO term enrichment analysis revealed that a majority of the interacting proteins are involved in metabolism, catabolism, proteolysis, and hydrolysis, and include other NCL-like proteins (e.g., Tpp1/Cln2, cathepsin D/Cln10, cathepsin F/Cln13) as well as proteins linked to …
A GO term enrichment analysis revealed that a majority of the interacting proteins are involved in metabolism, catabolism, proteolysis, and …
Comparative transcriptomics reveals mechanisms underlying cln3-deficiency phenotypes in Dictyostelium.
Huber RJ, Mathavarajah S. Huber RJ, et al. Cell Signal. 2019 Jun;58:79-90. doi: 10.1016/j.cellsig.2019.02.004. Epub 2019 Feb 14. Cell Signal. 2019. PMID: 30771446
Among the differentially expressed genes were homologs of other human NCL genes including TPP1/CLN2, CLN5, CTSD/CLN10, PGRN/CLN11, and CTSF/CLN13. STRING and GO term analyses revealed an enrichment of genes linked to metabolic, biosynthetic, and catalytic processes. ...
Among the differentially expressed genes were homologs of other human NCL genes including TPP1/CLN2, CLN5, CTSD/CLN10, PGRN/CLN11, an …
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