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Page 1
Gene therapy for neurodegenerative disorders: advances, insights and prospects.
Chen W, Hu Y, Ju D. Chen W, et al. Acta Pharm Sin B. 2020 Aug;10(8):1347-1359. doi: 10.1016/j.apsb.2020.01.015. Epub 2020 Jan 31. Acta Pharm Sin B. 2020. PMID: 32963936 Free PMC article. Review.
Gene therapy is rapidly emerging as a powerful therapeutic strategy for a wide range of neurodegenerative disorders, including Alzheimer's disease (AD), Parkinson's disease (PD) and Huntington's disease (HD). ...
Gene therapy is rapidly emerging as a powerful therapeutic strategy for a wide range of neurodegenerative disorders, including Alzheimer's …
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
Berkovic SF, Oliver KL, Canafoglia L, Krieger P, Damiano JA, Hildebrand MS, Morbin M, Vears DF, Sofia V, Giuliano L, Garavaglia B, Simonati A, Santorelli FM, Gambardella A, Labate A, Belcastro V, Castellotti B, Ozkara C, Zeman A, Rankin J, Mole SE, Aguglia U, Farrell M, Rajagopalan S, McDougall A, Brammah S, Andermann F, Andermann E, Dahl HM, Franceschetti S, Carpenter S. Berkovic SF, et al. Brain. 2019 Jan 1;142(1):59-69. doi: 10.1093/brain/awy297. Brain. 2019. PMID: 30561534
Here we provide a detailed description of Kufs disease due to CLN6 pathogenic variants. We studied 20 cases of Kufs disease with CLN6 pathogenic variants from 13 unrelated families. ...Clinical distinction of type A (progressive myoclonus epilepsy) and …
Here we provide a detailed description of Kufs disease due to CLN6 pathogenic variants. We studied 20 cases of Kufs disease …
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
Sheep with naturally occurring CLN5 and CLN6 forms of neuronal ceroid lipofuscinoses (Batten disease) share the key clinical features of the human disease and represent an ideal model system in which the clinical efficacy of gene therapies is developed and te …
Sheep with naturally occurring CLN5 and CLN6 forms of neuronal ceroid lipofuscinoses (Batten disease) share the key clinical f …
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW, Pan HX, Liu Z, Wang Y, Zeng Q, Fang ZH, Luo TF, Xu K, Wang Z, Zhou X, He R, Li B, Zhao G, Xu Q, Sun QY, Yan XX, Tan JQ, Li JC, Guo JF, Tang BS. Zhao YW, et al. Front Aging Neurosci. 2021 Nov 15;13:749109. doi: 10.3389/fnagi.2021.749109. eCollection 2021. Front Aging Neurosci. 2021. PMID: 34867278 Free PMC article.
Background: Recent years have witnessed an increasing number of studies indicating an essential role of the lysosomal dysfunction in Parkinson's disease (PD) at the genetic, biochemical, and cellular pathway levels. ...Methods: We explored the association between rare vari …
Background: Recent years have witnessed an increasing number of studies indicating an essential role of the lysosomal dysfunction in Parkins …
Juvenile-Onset Kufs Disease in a Chinese Consanguineous Family due to CLN6 Mutation.
Jia W, Luo Y, Wang J, Yang Y, Yang W, Zhang X. Jia W, et al. Neurodegener Dis. 2021;21(5-6):126-131. doi: 10.1159/000524784. Epub 2022 May 24. Neurodegener Dis. 2021. PMID: 35609511
Western blot analysis was used to evaluate the level of expression of CLN6 protein in 239T cells. RESULTS: We identified a novel homozygous mutation of the CLN6 gene (c.14G>T, p.Arg5Leu) in a consanguineous Chinese family in which two people had Kufs disease …
Western blot analysis was used to evaluate the level of expression of CLN6 protein in 239T cells. RESULTS: We identified a novel homo …
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
Kousi M, Lehesjoki AE, Mole SE. Kousi M, et al. Hum Mutat. 2012 Jan;33(1):42-63. doi: 10.1002/humu.21624. Epub 2011 Nov 16. Hum Mutat. 2012. PMID: 21990111 Review.
For example, mutations in CLN5, CLN6, MFSD8, or CLN8 can underlie the clinically similar late infantile variant NCL disease. Phenotypic divergence is exemplified by different CLN8 mutations giving rise to two very different diseases, the mild CLN8 disease …
For example, mutations in CLN5, CLN6, MFSD8, or CLN8 can underlie the clinically similar late infantile variant NCL disease. P …
Tracking sex-dependent differences in a mouse model of CLN6-Batten disease.
Poppens MJ, Cain JT, Johnson TB, White KA, Davis SS, Laufmann R, Kloth AD, Weimer JM. Poppens MJ, et al. Orphanet J Rare Dis. 2019 Jan 21;14(1):19. doi: 10.1186/s13023-019-0994-8. Orphanet J Rare Dis. 2019. PMID: 30665444 Free PMC article.
In this study, we investigate whether sex differences in a mouse model of CLN6-Batten disease impact disease onset and progression. RESULTS: A number of noteworthy differences were observed including elevated accumulation of mitochondrial ATP synthase subunit …
In this study, we investigate whether sex differences in a mouse model of CLN6-Batten disease impact disease onset and …
CLN6's luminal tail-mediated functional interference between CLN6 mutants as a novel pathomechanism for the neuronal ceroid lipofuscinoses.
Shiro Y, Yamashita A, Watanabe K, Yamazaki T. Shiro Y, et al. Biomed Res. 2021;42(4):129-138. doi: 10.2220/biomedres.42.129. Biomed Res. 2021. PMID: 34380921 Free article.
CLN6 disease is an autosomal recessive disorder and individuals affected with this disease have two identical (homozygous) or two distinct (compound heterozygous) CLN6 mutant alleles. Little has been known about CLN6's physiological roles and th …
CLN6 disease is an autosomal recessive disorder and individuals affected with this disease have two identical (homozygo …
Intracranial delivery of AAV9 gene therapy partially prevents retinal degeneration and visual deficits in CLN6-Batten disease mice.
White KA, Nelvagal HR, Poole TA, Lu B, Johnson TB, Davis S, Pratt MA, Brudvig J, Assis AB, Likhite S, Meyer K, Kaspar BK, Cooper JD, Wang S, Weimer JM. White KA, et al. Mol Ther Methods Clin Dev. 2021 Jan 5;20:497-507. doi: 10.1016/j.omtm.2020.12.014. eCollection 2021 Mar 12. Mol Ther Methods Clin Dev. 2021. PMID: 33665223 Free PMC article.
Batten disease is a family of rare, fatal, neuropediatric diseases presenting with memory/learning decline, blindness, and loss of motor function. Recently, we reported the use of an AAV9-mediated gene therapy that prevents disease progression in a mouse mode …
Batten disease is a family of rare, fatal, neuropediatric diseases presenting with memory/learning decline, blindness, and los …
Implications of graded reductions in CLN6's anti-aggregate activity for the development of the neuronal ceroid lipofuscinoses.
Yamashita A, Shiro Y, Hiraki Y, Yujiri T, Yamazaki T. Yamashita A, et al. Biochem Biophys Res Commun. 2020 May 14;525(4):883-888. doi: 10.1016/j.bbrc.2020.03.019. Epub 2020 Mar 11. Biochem Biophys Res Commun. 2020. PMID: 32171521
Mutations in the CLN6 gene are linked to an autosomal recessively inherited disorder termed CLN6 disease, classified as a form of the neuronal ceroid lipofuscinoses (NCL). The pathogenesis of CLN6 disease remains poorly understood due to a lack …
Mutations in the CLN6 gene are linked to an autosomal recessively inherited disorder termed CLN6 disease, classified as …
174 results