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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 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 …
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 …
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 …
Loss of Cln5 leads to altered Gad1 expression and deficits in interneuron development in mice.
Singh Y, Leinonen H, Fazaludeen F, Jaronen M, Guest D, Buckley N, Byts N, Oksa P, Jalkanen K, Iqbal I, Huuskonen M, Savchenko E, Keksa-Goldsteine V, Chew S, Myllyharju J, Tanila H, Ooi L, Koistinaho J, Kanninen KM, Malm T. Singh Y, et al. Hum Mol Genet. 2019 Oct 1;28(19):3309-3322. doi: 10.1093/hmg/ddz165. Hum Mol Genet. 2019. PMID: 31294445
The Finnish-variant late infantile neuronal ceroid lipofuscinosis, also known as CLN5 disease, is caused by mutations in the CLN5 gene. Cln5 is strongly expressed in the developing brain and expression continues into adulthood. ...Using Cln5-/- embryos …
The Finnish-variant late infantile neuronal ceroid lipofuscinosis, also known as CLN5 disease, is caused by mutations in the CLN5 …
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 th …
This study compared neurodegeneration, neuroinflammation, and lysosomal storage accumulation in CLN5 affected Borderdale, CLN6 affect …
CLN5 and CLN3 function as a complex to regulate endolysosome function.
Yasa S, Sauvageau E, Modica G, Lefrancois S. Yasa S, et al. Biochem J. 2021 Jun 25;478(12):2339-2357. doi: 10.1042/BCJ20210171. Biochem J. 2021. PMID: 34060589
We previously found that depletion of CLN5 leads to dysfunctional retromer, resulting in the degradation of the lysosomal sorting receptor, sortilin. ...Our data support a model where CLN3 and CLN5 function as an endolysosomal complex regulating various functions... …
We previously found that depletion of CLN5 leads to dysfunctional retromer, resulting in the degradation of the lysosomal sorting rec …
The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function.
Parvin S, Rezazadeh M, Hosseinzadeh H, Moradi M, Shiva S, Gharesouran J. Parvin S, et al. Neuromolecular Med. 2019 Jun;21(2):160-169. doi: 10.1007/s12017-019-08529-7. Epub 2019 Mar 27. Neuromolecular Med. 2019. PMID: 30919163
WES of probands 1 and 2 revealed homozygotic mutations in exon 4 of CLN5 (c.741G > A, p.W247X) and deletion in exon 3 (c.565delT, p.F189fs) of CLN8, respectively. ...In concordance with previous studies, our results indicate that pathogenic mutations in CLN genes, espec …
WES of probands 1 and 2 revealed homozygotic mutations in exon 4 of CLN5 (c.741G > A, p.W247X) and deletion in exon 3 (c.565delT, …
42 results