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Page 1
Mendelian randomization identifies proteins involved in neurodegenerative diseases.
Belbasis L, Morris S, van Duijn C, Bennett D, Walters R. Belbasis L, et al. Brain. 2025 Jul 7;148(7):2412-2428. doi: 10.1093/brain/awaf018. Brain. 2025. PMID: 40037332 Free PMC article.
The newly associated proteins indicated the involvement of complement (C1S and C1R), microglia (SIRPA, SIGLEC9 and PRSS8) and lysosomes (CLN5) in Alzheimer's disease; the interleukin-6 pathway (CTF1) in Parkinson's disease; lysosomes (TPP1), blood-brain barrier integrity ( …
The newly associated proteins indicated the involvement of complement (C1S and C1R), microglia (SIRPA, SIGLEC9 and PRSS8) and lysosomes ( …
A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis.
Basak I, Wicky HE, McDonald KO, Xu JB, Palmer JE, Best HL, Lefrancois S, Lee SY, Schoderboeck L, Hughes SM. Basak I, et al. Cell Mol Life Sci. 2021 May;78(10):4735-4763. doi: 10.1007/s00018-021-03813-x. Epub 2021 Apr 1. Cell Mol Life Sci. 2021. PMID: 33792748 Free PMC article. Review.
The thirteen forms of NCL are caused by mutations in thirteen CLN genes. Mutations in one CLN gene, CLN5, cause variant late-infantile NCL, with an age of onset between 4 and 7 years. The CLN5 protein is ubiquitously expressed in the majority of tissues studied and …
The thirteen forms of NCL are caused by mutations in thirteen CLN genes. Mutations in one CLN gene, CLN5, cause variant late-infantil …
CLN5 deficiency impairs glucose uptake and uncovers PHGDH as a potential biomarker in Batten disease.
Marchese M, Bernardi S, Vivarelli R, Doccini S, Santucci L, Ogi A, Licitra R, Zang J, Soliymani R, Mero S, Neuhauss SC, Ciarmoli L, Signore G, Lalowski MM, Santorelli FM. Marchese M, et al. Mol Psychiatry. 2025 Oct;30(10):4591-4604. doi: 10.1038/s41380-025-03043-8. Epub 2025 May 9. Mol Psychiatry. 2025. PMID: 40346285 Free PMC article.
CLN5 disease, a form of juvenile dementia within the neuronal ceroid lipofuscinosis (NCL), is associated with mutations in the CLN5 gene encoding the lysosomal bis(monoacylglycero)phosphate (BMP) synthase, essential for BMP production and lysosomal function. ...This …
CLN5 disease, a form of juvenile dementia within the neuronal ceroid lipofuscinosis (NCL), is associated with mutations in the CLN …
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 …
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
Residues that are glycosylated in human CLN5 are conserved in the Dictyostelium homolog as are residues that are mutated in patients with CLN5 disease. ...We also reveal that both Dictyostelium Cln5 and human CLN5 are glycoside hydrolases, providing th …
Residues that are glycosylated in human CLN5 are conserved in the Dictyostelium homolog as are residues that are mutated in patients …
Novel Mutations in CLN5 of Chinese Patients With Neuronal Ceroid Lipofuscinosis.
Ge L, Li HY, Hai Y, Min L, Xing L, Min J, Shu HX, Mei OY, Hua L. Ge L, et al. J Child Neurol. 2018 Nov;33(13):837-850. doi: 10.1177/0883073818789024. Epub 2018 Sep 28. J Child Neurol. 2018. PMID: 30264640 Review.
Neuronal ceroid lipofuscinosis is a hereditary disease, and ceroid-lipofuscinosis neuronal protein 5 (CLN5) has been proved to be associated with neuronal ceroid lipofuscinosis. Here we report 3 patients from 2 families diagnosed with CLN5 neuronal ceroid lipofuscin …
Neuronal ceroid lipofuscinosis is a hereditary disease, and ceroid-lipofuscinosis neuronal protein 5 (CLN5) has been proved to be ass …
Brain-Directed AAV Gene Therapy Rescues a Mouse Model of the CLN5 Form of Neuronal Ceroid Lipofuscinosis Disease and Normalizes a Blood Plasma Biomarker of Neurodegeneration.
Liu W, Geard AF, Massaro G, Hughes MP, Aristorena M, Coombe-Tennant O, Xu L, Semenyuk O, Bush R, Te Vruchte D, Priestman D, Laban R, Veleva E, Heslegrave AJ, Zetterberg H, Platt FM, Smith AJ, Mole SE, Ali RR, Rahim AA. Liu W, et al. Hum Gene Ther. 2026 Mar;37(5-6):241-261. doi: 10.1177/10430342251403448. Epub 2026 Feb 8. Hum Gene Ther. 2026. PMID: 41457644
CLN5 disease, caused by mutations in the CLN5 gene, is a form of neuronal ceroid lipofuscinoses (Batten disease). ...Here, we report a preclinical study of AAV9-mediated gene therapy in a Cln5(-/-) mouse model. Single-dose AAV9 carrying human CLN5 driv …
CLN5 disease, caused by mutations in the CLN5 gene, is a form of neuronal ceroid lipofuscinoses (Batten disease). ...Here, we …
Characterization of neuropathology in ovine CLN5 and CLN6 neuronal ceroid lipofuscinoses (Batten disease).
Mitchell NL, Russell KN, Barrell GK, Tammen I, Palmer DN. Mitchell NL, et al. Dev Neurobiol. 2023 Jul-Sep;83(5-6):127-142. doi: 10.1002/dneu.22918. Epub 2023 May 28. Dev Neurobiol. 2023. PMID: 37246363
This study compared neurodegeneration, neuroinflammation, and lysosomal storage accumulation in CLN5 affected Borderdale, CLN6 affected South Hampshire, and Merino sheep brains from birth to end-stage disease at 24 months of age. ...This comprehensive natural history of t …
This study compared neurodegeneration, neuroinflammation, and lysosomal storage accumulation in CLN5 affected Borderdale, CLN6 affect …
Lysosomal dysfunction, autophagic defects, and CLN5 accumulation underlie the pathogenesis of KCTD7-mutated neuronal ceroid lipofuscinoses.
Wang Y, Wang H, Wang C. Wang Y, et al. Autophagy. 2023 Jun;19(6):1876-1878. doi: 10.1080/15548627.2022.2140882. Epub 2022 Nov 11. Autophagy. 2023. PMID: 36368077 Free PMC article.
In our recent study, we showed that KCTD7 deficiency leads to the accumulation of lysosomal storage deposits owing to lysosomal dysfunction and macroautophagic/autophagic defects. We identified CLN5 as an authentic substrate of CRL3-KCTD7 E3s. Wild-type KCTD7 targets CL …
In our recent study, we showed that KCTD7 deficiency leads to the accumulation of lysosomal storage deposits owing to lysosomal dysfunction …
Deficiency of the Lysosomal Protein CLN5 Alters Lysosomal Function and Movement.
Basak I, Hansen RA, Ward ME, Hughes SM. Basak I, et al. Biomolecules. 2021 Sep 27;11(10):1412. doi: 10.3390/biom11101412. Biomolecules. 2021. PMID: 34680045 Free PMC article.
A characteristic pathology in CLN5 Batten disease is the defects in lysosomes, leading to neuronal dysfunction. In this study, we aimed to investigate the lysosomal changes in CLN5-deficient human neurons. ...Furthermore, the CLN5-deficient human neurons also …
A characteristic pathology in CLN5 Batten disease is the defects in lysosomes, leading to neuronal dysfunction. In this study, we aim …
47 results