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2013 1
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Page 1
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 …
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.
Martínez-Rubio D, Hinarejos I, Argente-Escrig H, Marco-Marín C, Lozano MA, Gorría-Redondo N, Lupo V, Martí-Carrera I, Miranda C, Vázquez-López M, García-Pérez A, Marco-Hernández AV, Tomás-Vila M, Aguilera-Albesa S, Espinós C. Martínez-Rubio D, et al. Int J Mol Sci. 2023 Nov 16;24(22):16400. doi: 10.3390/ijms242216400. Int J Mol Sci. 2023. PMID: 38003592 Free PMC article.
Seven probands carry causative variants in well-known genes associated with CA or cerebellar hypoplasia: SETX, CACNA1G, CACNA1A, CLN6, CPLANE1, and TBCD. The remaining three cases deserve special attention; they harbour variants in MAST1, PI4KA and CLK2 genes. ...
Seven probands carry causative variants in well-known genes associated with CA or cerebellar hypoplasia: SETX, CACNA1G, CACNA1A, CLN6 …
Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.
Rus CM, Weissensteiner T, Pereira C, Susnea I, Danquah BD, Morales Torres G, Rocha ME, Cozma C, Saravanakumar D, Mannepalli S, Kandaswamy KK, Di Bucchianico S, Zimmermann R, Rolfs A, Bauer P, Beetz C. Rus CM, et al. Orphanet J Rare Dis. 2022 May 3;17(1):179. doi: 10.1186/s13023-022-02288-8. Orphanet J Rare Dis. 2022. PMID: 35505348 Free PMC article.
Because these are shared by other neurological diseases, identification of CLN6 genetic variants is imperative for early diagnosis. RESULTS: We present one of the largest cohorts to date of genetically diagnosed CLN6 patients screened at a single center. ...Variants …
Because these are shared by other neurological diseases, identification of CLN6 genetic variants is imperative for early diagnosis. R …
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
The pathogenesis of CLN6 disease remains poorly understood due to a lack of information about physiological roles CLN6 plays. We previously demonstrated that CLN6 has the ability to prevent protein aggregate formation, and thus hypothesized that the abrogatio …
The pathogenesis of CLN6 disease remains poorly understood due to a lack of information about physiological roles CLN6 plays. …
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.
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.
Wild-type KCTD7 targets CLN5 for ubiquitination and proteasomal degradation, whereas NCL patient-derived KCTD7 mutations disrupt the interaction between KCTD7-CUL3 or KCTD7-CLN5 and ultimately lead to excessive CLN5 accumulation in the endoplasmic reticulum. Accumulated CLN5 disr …
Wild-type KCTD7 targets CLN5 for ubiquitination and proteasomal degradation, whereas NCL patient-derived KCTD7 mutations disrupt the interac …
Gene Therapy Corrects Brain and Behavioral Pathologies in CLN6-Batten Disease.
Cain JT, Likhite S, White KA, Timm DJ, Davis SS, Johnson TB, Dennys-Rivers CN, Rinaldi F, Motti D, Corcoran S, Morales P, Pierson C, Hughes SM, Lee SY, Kaspar BK, Meyer K, Weimer JM. Cain JT, et al. Mol Ther. 2019 Oct 2;27(10):1836-1847. doi: 10.1016/j.ymthe.2019.06.015. Epub 2019 Jul 10. Mol Ther. 2019. PMID: 31331814 Free PMC article.
We developed a self-complementary adeno-associated virus serotype 9 (scAAV9) vector expressing the human CLN6 gene under the control of a chicken beta-actin (CB) hybrid promoter. ...A single intracerebroventricular (i.c.v.) injection at post-natal day 1 in Cln6 muta …
We developed a self-complementary adeno-associated virus serotype 9 (scAAV9) vector expressing the human CLN6 gene under the control …
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. ...Type A is usually caused by recessive pathogenic variants in CLN6 or domin …
Here we provide a detailed description of Kufs disease due to CLN6 pathogenic variants. We studied 20 cases of Kufs disease with C …
KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses.
Wang Y, Cao X, Liu P, Zeng W, Peng R, Shi Q, Feng K, Zhang P, Sun H, Wang C, Wang H. Wang Y, et al. Sci Adv. 2022 Aug 5;8(31):eabm5578. doi: 10.1126/sciadv.abm5578. Epub 2022 Aug 3. Sci Adv. 2022. PMID: 35921411 Free PMC article.
Mechanistically, the CRL3-KCTD7 complex degrades CLN5, whereas patient-derived KCTD7 mutations disrupt the interaction between KCTD7-CUL3 or KCTD7-CLN5 and ultimately lead to excessive accumulation of CLN5. The accumulated CLN5 disrupts the interaction between CLN6/8 and l …
Mechanistically, the CRL3-KCTD7 complex degrades CLN5, whereas patient-derived KCTD7 mutations disrupt the interaction between KCTD7-CUL3 or …
Large animal models of rare genetic disorders: sheep as phenotypically relevant models of human genetic disease.
Pinnapureddy AR, Stayner C, McEwan J, Baddeley O, Forman J, Eccles MR. Pinnapureddy AR, et al. Orphanet J Rare Dis. 2015 Sep 2;10:107. doi: 10.1186/s13023-015-0327-5. Orphanet J Rare Dis. 2015. PMID: 26329332 Free PMC article. Review.
We exemplify several existing naturally occurring ovine variants in genes that are orthologous to human disease genes, such as the Cln6 sheep model for Batten disease. These, and other sheep models, have contributed significantly to our understanding of the relevant human …
We exemplify several existing naturally occurring ovine variants in genes that are orthologous to human disease genes, such as the Cln6 …
40 results