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547 results

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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 …
Timing of cognitive decline in CLN3 disease.
Kuper WFE, van Alfen C, Rigterink RH, Fuchs SA, van Genderen MM, van Hasselt PM. Kuper WFE, et al. J Inherit Metab Dis. 2018 Mar;41(2):257-261. doi: 10.1007/s10545-018-0143-x. Epub 2018 Feb 1. J Inherit Metab Dis. 2018. PMID: 29392585 Free PMC article.
BACKGROUND: CLN3 disease is a major cause of childhood neurodegeneration. Onset of visual failure around 6 years of age is thought to precede cognitive deterioration by a few years, but casuistic reports question this paradigm. The aim of our study is to delineate t …
BACKGROUND: CLN3 disease is a major cause of childhood neurodegeneration. Onset of visual failure around 6 years of age is tho …
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.
Loss of CLN3 also disrupts glycerophospholipid catabolism in the lysosome. Finally, we found elevated levels of glycerophosphoinositol in the cerebrospinal fluid of patients with Batten disease, suggesting the potential use of glycerophosphoinositol as a disease …
Loss of CLN3 also disrupts glycerophospholipid catabolism in the lysosome. Finally, we found elevated levels of glycerophosphoinosito …
Recognition and epileptology of protracted CLN3 disease.
Cameron JM, Damiano JA, Grinton B, Carney PW, McKelvie P, Silbert P, Lawn N, Scheffer IE, Oliver KL, Hildebrand MS, Berkovic SF. Cameron JM, et al. Epilepsia. 2023 Jul;64(7):1833-1841. doi: 10.1111/epi.17616. Epub 2023 Apr 27. Epilepsia. 2023. PMID: 37039534 Free PMC article.
OBJECTIVE: This study was undertaken to analyze phenotypic features of a cohort of patients with protracted CLN3 disease to improve recognition of the disorder. METHODS: We analyzed phenotypic data of 10 patients from six families with protracted CLN3 dise …
OBJECTIVE: This study was undertaken to analyze phenotypic features of a cohort of patients with protracted CLN3 disease to im …
Juvenile CLN3 disease is a lysosomal cholesterol storage disorder: similarities with Niemann-Pick type C disease.
Chen J, Soni RK, Xu Y, Simoes S, Liang FX, DeFreitas L, Hwang R Jr, Montesinos J, Lee JH, Area-Gomez E, Nandakumar R, Vardarajan B, Marquer C. Chen J, et al. EBioMedicine. 2023 Jun;92:104628. doi: 10.1016/j.ebiom.2023.104628. Epub 2023 May 26. EBioMedicine. 2023. PMID: 37245481 Free PMC article.
BACKGROUND: The most common form of neuronal ceroid lipofuscinosis (NCL) is juvenile CLN3 disease (JNCL), a currently incurable neurodegenerative disorder caused by mutations in the CLN3 gene. ...Our findings also support that JNCL and NPC disease shar …
BACKGROUND: The most common form of neuronal ceroid lipofuscinosis (NCL) is juvenile CLN3 disease (JNCL), a currently incurabl …
Early recognition of CLN3 disease facilitated by visual electrophysiology and multimodal imaging.
Sakti DH, Cornish EE, Fraser CL, Nash BM, Sandercoe TM, Jones MM, Rowe NA, Jamieson RV, Johnson AM, Grigg JR. Sakti DH, et al. Doc Ophthalmol. 2023 Jun;146(3):241-256. doi: 10.1007/s10633-023-09930-1. Epub 2023 Mar 25. Doc Ophthalmol. 2023. PMID: 36964447 Free PMC article.
This study reports ocular biomarkers of CLN3 patients to assist clinicians in early diagnosis, disease monitoring, and future therapy. ...Neurological problems noted included autism, anxiety, motor dyspraxia, behavioural issue, and psychomotor regression. CONCLUSION …
This study reports ocular biomarkers of CLN3 patients to assist clinicians in early diagnosis, disease monitoring, and future …
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. ...Although ceroid-lipofuscinosis, neuronal 3 (CLN3) has been identifie …
Juvenile neuronal ceroid lipofuscinosis (JNCL; also known as CLN3 disease) is a devastating neurodegenerative lysosomal storag …
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 …
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. ...Additionally, mutant miniswine p …
Mouse models of CLN3 Batten disease, a rare lysosomal storage disorder with no cure, have improved our understanding of CLN …
547 results