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1990 2
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516 results

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Page 1
Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation.
Calcagni' A, Staiano L, Zampelli N, Minopoli N, Herz NJ, Di Tullio G, Huynh T, Monfregola J, Esposito A, Cirillo C, Bajic A, Zahabiyon M, Curnock R, Polishchuk E, Parkitny L, Medina DL, Pastore N, Cullen PJ, Parenti G, De Matteis MA, Grumati P, Ballabio A. Calcagni' A, et al. Nat Commun. 2023 Jul 3;14(1):3911. doi: 10.1038/s41467-023-39643-7. Nat Commun. 2023. PMID: 37400440 Free PMC article.
Batten disease, one of the most devastating types of neurodegenerative lysosomal storage disorders, is caused by mutations in CLN3. ...Together, our findings reveal that CLN3 functions as a link between the M6P-dependent trafficking of lysosomal enzymes and l …
Batten disease, one of the most devastating types of neurodegenerative lysosomal storage disorders, is caused by mutations in CLN3 …
Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype.
Soldati C, Lopez-Fabuel I, Wanderlingh LG, Garcia-Macia M, Monfregola J, Esposito A, Napolitano G, Guevara-Ferrer M, Scotto Rosato A, Krogsaeter EK, Paquet D, Grimm CM, Montefusco S, Braulke T, Storch S, Mole SE, De Matteis MA, Ballabio A, Sampaio JL, McKay T, Johannes L, Bolaños JP, Medina DL. Soldati C, et al. EMBO Mol Med. 2021 Oct 7;13(10):e13742. doi: 10.15252/emmm.202013742. Epub 2021 Aug 19. EMBO Mol Med. 2021. PMID: 34411438 Free PMC article.
We discovered increased levels of globotriaosylceramide (Gb3) in cellular and murine models of CLN3 and CLN7 diseases and used fluorescent-conjugated bacterial toxins to label Gb3 to develop a cell-based high content imaging (HCI) screening assay for the repurposing …
We discovered increased levels of globotriaosylceramide (Gb3) in cellular and murine models of CLN3 and CLN7 diseases and used …
Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease).
Ouseph MM, Kleinman ME, Wang QJ. Ouseph MM, et al. Ann N Y Acad Sci. 2016 May;1371(1):55-67. doi: 10.1111/nyas.12990. Epub 2016 Jan 8. Ann N Y Acad Sci. 2016. PMID: 26748992 Free PMC article. Review.
Juvenile neuronal ceroid lipofuscinosis (JNCL; also known as CLN3 disease) is a devastating neurodegenerative lysosomal storage disorder and the most common form of Batten disease. Progressive visual and neurological symptoms lead to mortality in patients by …
Juvenile neuronal ceroid lipofuscinosis (JNCL; also known as CLN3 disease) is a devastating neurodegenerative lysosomal storag …
Juvenile NCL (CLN3 Disease): Emerging Disease-Modifying Therapeutic Strategies.
Augustine EF, Mink JW. Augustine EF, et al. Pediatr Endocrinol Rev. 2016 Jun;13 Suppl 1:655-62. Pediatr Endocrinol Rev. 2016. PMID: 27491213 Review.
Abstract Juvenile Neuronal Ceroid Lipofuscinosis is a lysosomal storage disease characterized pathologically by intracellular accumulation of autofluorescent storage material and neurodegeneration. Caused by mutations in the CLN3 gene on chromosome 16p12, the precis …
Abstract Juvenile Neuronal Ceroid Lipofuscinosis is a lysosomal storage disease characterized pathologically by intracellular accumul …
CLN3 is required for the clearance of glycerophosphodiesters from lysosomes.
Laqtom NN, Dong W, Medoh UN, Cangelosi AL, Dharamdasani V, Chan SH, Kunchok T, Lewis CA, Heinze I, Tang R, Grimm C, Dang Do AN, Porter FD, Ori A, Sabatini DM, Abu-Remaileh M. Laqtom NN, et al. Nature. 2022 Sep;609(7929):1005-1011. doi: 10.1038/s41586-022-05221-y. Epub 2022 Sep 21. Nature. 2022. PMID: 36131016 Free PMC article.
In children, the loss of CLN3 causes juvenile neuronal ceroid lipofuscinosis (Batten disease), a lethal neurodegenerative LSD. ...Our results show that CLN3 is required for the lysosomal clearance of GPDs and reveal Batten disease as a neurodegenerativ …
In children, the loss of CLN3 causes juvenile neuronal ceroid lipofuscinosis (Batten disease), a lethal neurodegenerative LSD. …
A novel porcine model of CLN3 Batten disease recapitulates clinical phenotypes.
Swier VJ, White KA, Johnson TB, Wang X, Han J, Pearce DA, Singh R, Drack AV, Pfeifer W, Rogers CS, Brudvig JJ, Weimer JM. Swier VJ, et al. Dis Model Mech. 2023 Aug 1;16(8):dmm050038. doi: 10.1242/dmm.050038. Epub 2023 Aug 7. Dis Model Mech. 2023. PMID: 37305926 Free PMC article.
Mouse models of CLN3 Batten disease, a rare lysosomal storage disorder with no cure, have improved our understanding of CLN3 biology and therapeutics through their ease of use and a consistent display of cellular pathology. ...Here, we present a longitudinal …
Mouse models of CLN3 Batten disease, a rare lysosomal storage disorder with no cure, have improved our understanding of CLN …
Protracted CLN3 Batten disease in mice that genetically model an exon-skipping therapeutic approach.
Centa JL, Stratton MP, Pratt MA, Osterlund Oltmanns JR, Wallace DG, Miller SA, Weimer JM, Hastings ML. Centa JL, et al. Mol Ther Nucleic Acids. 2023 Jun 3;33:15-27. doi: 10.1016/j.omtn.2023.05.025. eCollection 2023 Sep 12. Mol Ther Nucleic Acids. 2023. PMID: 37359347 Free PMC article.
We have recently reported on an exon-skipping antisense oligonucleotide that has a therapeutic effect in a mouse model of CLN3 Batten disease, a fatal pediatric lysosomal storage disease. To validate this therapeutic approach, we generated a mouse model that …
We have recently reported on an exon-skipping antisense oligonucleotide that has a therapeutic effect in a mouse model of CLN3 Batten …
A diagnostic confidence scheme for CLN3 disease.
Masten MC, Corre C, Paciorkowski AR, Vierhile A, Adams HR, Vermilion J, Zimmerman GA, Augustine EF, Mink JW. Masten MC, et al. J Inherit Metab Dis. 2021 Nov;44(6):1453-1462. doi: 10.1002/jimd.12429. Epub 2021 Sep 7. J Inherit Metab Dis. 2021. PMID: 34453334 Free PMC article.
Using genotype and phenotype data from an ongoing natural history study of CLN3 disease, we developed a hierarchical diagnostic confidence scheme with three major classes: Definite, Probable, or Possible CLN3 disease. An additional level, CLN3 …
Using genotype and phenotype data from an ongoing natural history study of CLN3 disease, we developed a hierarchical diagnosti …
Seizure phenotype in CLN3 disease and its relation to other neurologic outcome measures.
Abdennadher M, Inati S, Soldatos A, Norato G, Baker EH, Thurm A, Bartolini L, Masvekar R, Theodore W, Bielekova B, Porter FD, Dang Do AN. Abdennadher M, et al. J Inherit Metab Dis. 2021 Jul;44(4):1013-1020. doi: 10.1002/jimd.12366. Epub 2021 Feb 15. J Inherit Metab Dis. 2021. PMID: 33550636 Free PMC article.
CLN3 disease is a pediatric neurodegenerative condition wherein seizures are common. The most common disease-causing variant is an ~1-kb deletion in CLN3. We investigated seizure phenotype in relation to genotype and to adaptive behavior, MR spectrosco …
CLN3 disease is a pediatric neurodegenerative condition wherein seizures are common. The most common disease-causing va …
The Batten disease protein CLN3 is important for stress granules dynamics and translational activity.
Relton EL, Roth NJ, Yasa S, Kaleem A, Hermey G, Minnis CJ, Mole SE, Shelkovnikova T, Lefrancois S, McCormick PJ, Locker N. Relton EL, et al. J Biol Chem. 2023 May;299(5):104649. doi: 10.1016/j.jbc.2023.104649. Epub 2023 Mar 24. J Biol Chem. 2023. PMID: 36965618 Free PMC article.
Mutations that lead to persistent or aberrant SGs are increasingly associated with neuropathology and a hallmark of several neurodegenerative diseases. Mutations in CLN3 are causative of juvenile neuronal ceroid lipofuscinosis, a rare neurodegenerative disease …
Mutations that lead to persistent or aberrant SGs are increasingly associated with neuropathology and a hallmark of several neurodegenerativ …
516 results