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A novel candidate gene CLN8 regulates fat deposition in avian.
Li X, Zhang F, Sun Y, Sun D, Yang F, Liu Y, Hou Z. Li X, et al. J Anim Sci Biotechnol. 2023 May 1;14(1):70. doi: 10.1186/s40104-023-00864-x. J Anim Sci Biotechnol. 2023. PMID: 37121996 Free PMC article.
We identified a set of new loci that affect the traits related to fat deposition in avian. Among these loci, ceroid-lipofuscinosis, neuronal 8 (CLN8) is a novel candidate gene controlling fat deposition. ...Five significant SNPs (the most signif …
We identified a set of new loci that affect the traits related to fat deposition in avian. Among these loci, ceroid-lipofuscinosis …
Neuronal ceroid lipofuscinoses type 8: Expanding genotype/phenotype diversity-first report from Saudi Arabia.
Alkhars FZ, Bo Ali AY, Almohanna MA, Almajhad NA. Alkhars FZ, et al. Neurosciences (Riyadh). 2020 Jan;25(1):65-69. doi: 10.17712/nsj.2020.1.20190103. Neurosciences (Riyadh). 2020. PMID: 31982899 Free PMC article.
The most common form of neuronal ceroid lipofuscinoses is late infantile (LI-NCL), in association with the genes CLN2, CLN5, CLN6, and CLN8. We report the cases of neuronal ceroid lipofuscinoses type 8 in 3 patients from 2 unrelated families, which was confirmed by molecul …
The most common form of neuronal ceroid lipofuscinoses is late infantile (LI-NCL), in association with the genes CLN2, CLN5, CLN6, and CL …
A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer.
Bajaj L, Sharma J, di Ronza A, Zhang P, Eblimit A, Pal R, Roman D, Collette JR, Booth C, Chang KT, Sifers RN, Jung SY, Weimer JM, Chen R, Schekman RW, Sardiello M. Bajaj L, et al. J Clin Invest. 2020 Aug 3;130(8):4118-4132. doi: 10.1172/JCI130955. J Clin Invest. 2020. PMID: 32597833 Free PMC article.
Lysosomal enzymes are synthesized in the endoplasmic reticulum (ER) and transferred to the Golgi complex by interaction with the Batten disease protein CLN8 (ceroid lipofuscinosis, neuronal, 8). Here we investigated the relationship of this path …
Lysosomal enzymes are synthesized in the endoplasmic reticulum (ER) and transferred to the Golgi complex by interaction with the Batten dise …
Sex-split analysis of pathology and motor-behavioral outcomes in a mouse model of CLN8-Batten disease reveals an increased disease burden and trajectory in female Cln8(mnd) mice.
Holmes AD, White KA, Pratt MA, Johnson TB, Likhite S, Meyer K, Weimer JM. Holmes AD, et al. Orphanet J Rare Dis. 2022 Nov 11;17(1):411. doi: 10.1186/s13023-022-02564-7. Orphanet J Rare Dis. 2022. PMID: 36369162 Free PMC article.
BACKGROUND: CLN8-Batten disease (CLN8 disease) is a rare neurodegenerative disorder characterized phenotypically by progressive deterioration of motor and cognitive abilities, visual symptoms, epileptic seizures, and premature death. ...Recent investigations of othe …
BACKGROUND: CLN8-Batten disease (CLN8 disease) is a rare neurodegenerative disorder characterized phenotypically by progressiv …
Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population.
Inoue E, Watanabe Y, Xing J, Kushima I, Egawa J, Okuda S, Hoya S, Okada T, Uno Y, Ishizuka K, Sugimoto A, Igeta H, Nunokawa A, Sugiyama T, Ozaki N, Someya T. Inoue E, et al. PLoS One. 2015 Dec 14;10(12):e0144624. doi: 10.1371/journal.pone.0144624. eCollection 2015. PLoS One. 2015. PMID: 26657971 Free PMC article.
We recently performed whole-exome sequencing in two families with affected siblings and then carried out a follow-up study and identified ceroid-lipofuscinosis neuronal 8 (epilepsy, progressive with mental retardation) (CLN8) as a potential gene …
We recently performed whole-exome sequencing in two families with affected siblings and then carried out a follow-up study and identified …
Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.
Sahin Y, Güngör O, Gormez Z, Demirci H, Ergüner B, Güngör G, Dilber C. Sahin Y, et al. Acta Neurol Belg. 2017 Mar;117(1):159-167. doi: 10.1007/s13760-016-0721-3. Epub 2016 Nov 14. Acta Neurol Belg. 2017. PMID: 27844444
Based on the country of origin of the patients, the clinical features/courses, and the molecular genetics background of the disorder, 14 distinct NCL subtypes have been described to date. CLN8 mutation was first identified in Finnish patients, and the condition was named N …
Based on the country of origin of the patients, the clinical features/courses, and the molecular genetics background of the disorder, 14 dis …
Characterization of new transcripts enriched in the mouse retina and identification of candidate retinal disease genes.
Lord-Grignon J, Tétreault N, Mears AJ, Swaroop A, Bernier G. Lord-Grignon J, et al. Invest Ophthalmol Vis Sci. 2004 Sep;45(9):3313-9. doi: 10.1167/iovs.03-1350. Invest Ophthalmol Vis Sci. 2004. PMID: 15326156
The candidate RP22 gene codes for a putative transmembrane protein showing homology to Cln8 (ceroid lipofuscinosis, neuronal 8), in which gene mutations are associated with photoreceptors degeneration in mice. ...
The candidate RP22 gene codes for a putative transmembrane protein showing homology to Cln8 (ceroid lipofuscinosis, …
A neurodevelopmental disorder with a nonsense mutation in the Ox-2 antigen domain of the amyloid precursor protein (APP) gene.
Nguyen KV, Leydiker K, Wang R, Abdenur J, Nyhan WL. Nguyen KV, et al. Nucleosides Nucleotides Nucleic Acids. 2017 May 4;36(5):317-327. doi: 10.1080/15257770.2016.1267361. Epub 2017 Jan 19. Nucleosides Nucleotides Nucleic Acids. 2017. PMID: 28102781
Sequencing of genomic DNA revealed mutations in (a) exon 8 (Ox-2 antigen domain) of the amyloid precursor protein (APP) gene: c.1075C>T, p.Arg359(*) (b) exon 8 of the senataxin (SETX) gene: c.4738C>T, p.Arg1580Cys, and (c) exon 2 of the ceroid-lipofuscinosis, …
Sequencing of genomic DNA revealed mutations in (a) exon 8 (Ox-2 antigen domain) of the amyloid precursor protein (APP) gene: c.1075C>T, …
Isolated chromosome 8p23.2‑pter deletion: Novel evidence for developmental delay, intellectual disability, microcephaly and neurobehavioral disorders.
Shi S, Lin S, Chen B, Zhou Y. Shi S, et al. Mol Med Rep. 2017 Nov;16(5):6837-6845. doi: 10.3892/mmr.2017.7438. Epub 2017 Sep 7. Mol Med Rep. 2017. PMID: 28901431 Free PMC article.
Furthermore, following a detailed review of the potential associations between the genes located from 8p23.2 to 8pter and their clinical significance, it was hypothesized that DLG associated protein 2, ceroid-lipofuscinosis neuronal 8, Rho guanine nucl …
Furthermore, following a detailed review of the potential associations between the genes located from 8p23.2 to 8pter and their clinical sig …