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8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature.
Catusi I, Garzo M, Capra AP, Briuglia S, Baldo C, Canevini MP, Cantone R, Elia F, Forzano F, Galesi O, Grosso E, Malacarne M, Peron A, Romano C, Saccani M, Larizza L, Recalcati MP. Catusi I, et al. Genes (Basel). 2021 Apr 27;12(5):652. doi: 10.3390/genes12050652. Genes (Basel). 2021. PMID: 33925474 Free PMC article.
Genotype analysis allowed to narrow down the 8p23.3 candidate region which includes only DLGAP2, CLN8 and ARHGEF10 genes, accounting for the main signs of the broad clinical phenotype associated to 8p23.2-pter microdeletions. ...Additional patients will be necessary to val …
Genotype analysis allowed to narrow down the 8p23.3 candidate region which includes only DLGAP2, CLN8 and ARHGEF10 genes, accounting …
NCLs and ER: A stressful relationship.
Marotta D, Tinelli E, Mole SE. Marotta D, et al. Biochim Biophys Acta Mol Basis Dis. 2017 Jun;1863(6):1273-1281. doi: 10.1016/j.bbadis.2017.04.003. Epub 2017 Apr 6. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 28390949 Free PMC article. Review.
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 disea …
Status dystonicus associated with CLN8 disease.
Yıldırım M, Köse E, Keçeli AM, Balasar Ö, Şimşek N. Yıldırım M, et al. Brain Dev. 2021 Apr;43(4):571-575. doi: 10.1016/j.braindev.2020.12.005. Epub 2020 Dec 24. Brain Dev. 2021. PMID: 33358637
BACKGROUND: Status dystonicus is an underdiagnosed condition, probably due to heterogeneous etiology, presentation and course. Herein, we report the first case of CLN8 disease in the literature presenting with status dystonicus who responded well to pharmacological interve …
BACKGROUND: Status dystonicus is an underdiagnosed condition, probably due to heterogeneous etiology, presentation and course. Herein, we re …
AAV9 Gene Therapy Increases Lifespan and Treats Pathological and Behavioral Abnormalities in a Mouse Model of CLN8-Batten Disease.
Johnson TB, White KA, Brudvig JJ, Cain JT, Langin L, Pratt MA, Booth CD, Timm DJ, Davis SS, Meyerink B, Likhite S, Meyer K, Weimer JM. Johnson TB, et al. Mol Ther. 2021 Jan 6;29(1):162-175. doi: 10.1016/j.ymthe.2020.09.033. Epub 2020 Sep 24. Mol Ther. 2021. PMID: 33010819 Free PMC article.
CLN8 disease is a rare form of neuronal ceroid lipofuscinosis caused by biallelic mutations in the CLN8 gene, which encodes a transmembrane endoplasmic reticulum protein involved in trafficking of lysosomal enzymes. ...There are currently no treatments that can cure …
CLN8 disease is a rare form of neuronal ceroid lipofuscinosis caused by biallelic mutations in the CLN8 gene, which encodes a …
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 genetic risk factor for ASD. To …
We recently performed whole-exome sequencing in two families with affected siblings and then carried out a follow-up study and identified ce …
Neuronal ceroid lipofuscinosis related ER membrane protein CLN8 regulates PP2A activity and ceramide levels.
Adhikari B, De Silva B, Molina JA, Allen A, Peck SH, Lee SY. Adhikari B, et al. Biochim Biophys Acta Mol Basis Dis. 2019 Feb 1;1865(2):322-328. doi: 10.1016/j.bbadis.2018.11.011. Epub 2018 Nov 16. Biochim Biophys Acta Mol Basis Dis. 2019. PMID: 30453012 Free article.
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative lysosomal storage disorders. CLN8 deficiency causes a subtype of NCL, referred to as CLN8 disease. CLN8 is an ER resident protein with unknown function; however, a role in ce …
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative lysosomal storage disorders. CLN8 deficiency cau …
miR-3074-5p/CLN8 pathway regulates decidualization in recurrent miscarriage.
Meng N, Wang X, Shi Y, Mao Y, Yang Q, Ju B, Zhu Q, Zhang T, Gu Y, Zhang X. Meng N, et al. Reproduction. 2021 May 27;162(1):33-45. doi: 10.1530/REP-21-0032. Reproduction. 2021. PMID: 34044364
And, the expression level of CLN8 was continuously increased along with the decidualization process, whereas down-regulated CLN8 expression could inhibit the decidualization of T-HESCs in vitro. Furthermore, contrary to the increased expression level of miR-3074-5p, …
And, the expression level of CLN8 was continuously increased along with the decidualization process, whereas down-regulated CLN8 …
CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis.
di Ronza A, Bajaj L, Sharma J, Sanagasetti D, Lotfi P, Adamski CJ, Collette J, Palmieri M, Amawi A, Popp L, Chang KT, Meschini MC, Leung HE, Segatori L, Simonati A, Sifers RN, Santorelli FM, Sardiello M. di Ronza A, et al. Nat Cell Biol. 2018 Dec;20(12):1370-1377. doi: 10.1038/s41556-018-0228-7. Epub 2018 Nov 5. Nat Cell Biol. 2018. PMID: 30397314 Free PMC article.
ER-to-Golgi trafficking of CLN8 requires interaction with the COPII and COPI machineries via specific export and retrieval signals localized in the cytosolic carboxy terminus of CLN8. CLN8 deficiency leads to depletion of soluble enzymes in the lysosome, thus …
ER-to-Golgi trafficking of CLN8 requires interaction with the COPII and COPI machineries via specific export and retrieval signals lo …
Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes.
Kolesnikova M, Lima de Carvalho JR Jr, Oh JK, Soucy M, Demirkol A, Kim AH, Tsang SH, Breazzano MP. Kolesnikova M, et al. Invest Ophthalmol Vis Sci. 2023 Mar 1;64(3):23. doi: 10.1167/iovs.64.3.23. Invest Ophthalmol Vis Sci. 2023. PMID: 36912596 Free PMC article.
RESULTS: Genetic testing confirmed the presence of variants in CLN3, CLN7/MFSD8, CLN8, and GRN/CLN11. Five novel variants were identified, and four novel phenotypes of previously published alleles were described. ...
RESULTS: Genetic testing confirmed the presence of variants in CLN3, CLN7/MFSD8, CLN8, and GRN/CLN11. Five novel variants were identi …
36 results