Articles are linked to in each heading.

TRPML1 activation ameliorates lysosomal phenotypes in CLN3 deficient retinal pigment epithelial cells.

Wünkhaus D, et al. Sci Rep. 2024 Jul 29;14(1):17469. doi: 10.1038/s41598-024-67479-8. PMID: 39080379

Ceroid lipofuscinosis type 2 disease: Effective presymptomatic therapy-Oldest case of a presymptomatic enzyme therapy.

Breuillard D, et al. Eur J Neurol. 2024 Sep;31(9):e16324. doi: 10.1111/ene.16324. Epub 2024 May 1. PMID: 38693756

Early Symptoms and Treatment Outcomes in Neuronal Ceroid Lipofuscinosis Type 2: Croatian Experience.

Radi? Niševi? J, et al. J Pers Med. 2024 Jul 24;14(8):783. doi: 10.3390/jpm14080783. PMID: 39201975

Behaviours and psychological symptoms of childhood dementia: two cases of psychosocial interventions.

Atee M, Whiteman I, Lloyd R, Morris T. Palliat Care Soc Pract. 2024 Sep 6;18:26323524241273492. doi: 10.1177/26323524241273492. eCollection 2024. PMID: 39247715

Pediatric onset neuronal ceroid lipofuscinoses: Unraveling clinical and genetic specifications.

Ahdi SG, Alvi JR, Ashfaq A, Sultan T. Pak J Med Sci. 2024 Sep;40(8):1638-1643. doi: 10.12669/pjms.40.8.8006. PMID: 39281238

Six induced pluripotent stem cell lines from fibroblasts of individuals with CLN3-related conditions.

Dwojak E, et al. Stem Cell Res. 2024 Sep 18;81:103563. doi: 10.1016/j.scr.2024.103563. Online ahead of print. PMID: 39317061

Joining forces to develop individualized antisense oligonucleotides for patients with brain or eye diseases: the example of the Dutch Center for RNA Therapeutics.

Aartsma-Rus A,et al. Ther Adv Rare Dis. 2024 Sep 23;5:26330040241273465. doi: 10.1177/26330040241273465. eCollection 2024 Jan-Dec. PMID: 39328974 Free PMC article. Review.

A novel pathogenic variant in the KCTD7 gene in a patient with neuronal ceroid lipofuscinosis (CLN14): a case report and review of the literature.

Zeineddin S, et al. BMC Neurol. 2024 Sep 30;24(1):367. doi: 10.1186/s12883-024-03868-w. PMID: 39350080. Review.

Glucose metabolism impairment as a hallmark of progressive myoclonus epilepsies: a focus on neuronal ceroid lipofuscinoses.

Santucci L, et al. Front Cell Neurosci. 2024 Sep 19;18:1445003. doi: 0.3389/fncel.2024.1445003. eCollection 2024. PMID: 39364042

CLN3 transcript complexity revealed by long-read RNA sequencing analysis.

Zhang HY, et al. BMC Med Genomics. 2024 Oct 4;17(1):244. doi: 10.1186/s12920-024-02017-z. PMID: 39367445

Insight of autonomic dysfunction in CLN3 disease: a study on episodes resembling paroxysmal sympathetic hyperactivity (PSH).

Baekmann C, et al. Orphanet J Rare Dis. 2024 Oct 10;19(1):374. doi: 10.1186/s13023-024-03336-1. PMID: 39390491

Loss of CLN3 in microglia leads to impaired lipid metabolism and myelin turnover.

Yasa S, et al. Commun Biol. 2024 Oct 22;7(1):1373. doi: 10.1038/s42003-024-07057-w. PMID: 39438652

Safety and feasibility of umbilical cord blood transplantation in children with neuronal ceroid lipofuscinosis: a retrospective study.

Bauchat A, et al. Stem Cells Transl Med. 2024 Oct 29:szae080. doi: 10.1093/stcltm/szae080. Online ahead of print. PMID: 39471475

Adult-onset neuronal ceroid lipofuscinosis misdiagnosed as autoimmune encephalitis and normal-pressure hydrocephalus: A 10-year case report and case-based review.

Huang H, et al. Medicine (Baltimore). 2024 Oct 25;103(43):e40248. doi: 10.1097/MD.0000000000040248. PMID: 39470529 Free PMC article. Review.

Psychometric Validation of the CLN2 Quality of Life Questionnaire in Participants with CLN2 Disease Treated with Cerliponase Alfa.

Due C, Quinn J, Gissen P, et al. Healthcare (Basel). 2024 Nov 8;12(22):2229. doi: 10.3390/healthcare12222229. PMID: 39595427

Functionally overlapping intra- and extralysosomal pathways promote bis(monoacylglycero)phosphate synthesis in mammalian cells.

Bulfon D, Breithofer J, Grabner GF, et al. Nat Commun. 2024 Nov 16;15(1):9937. doi: 10.1038/s41467-024-54213-1. PMID: 39548099

Genetic and Cellular Basis of Impaired Phagocytosis and Photoreceptor Degeneration in CLN3 Disease.

Han J, Chear S, Talbot J, et al. Invest Ophthalmol Vis Sci. 2024 Nov 4;65(13):23. doi: 10.1167/iovs.65.13.23. PMID: 39535788

Intragenic duplication disrupting the reading frame of MFSD8 in Small Swiss Hounds with neuronal ceroid lipofuscinosis.

Rietmann SJ, Loderstedt S, Matiasek K, et al. Anim Genet. 2024 Dec;55(6):801-809. doi: 10.1111/age.13485. Epub 2024 Oct 22. PMID: 39434657

Cathepsin D inhibition during neuronal differentiation selectively affects individual proteins instead of overall protein turnover.

Schneider J, Mitschke J, Bhat M, et al. Biochimie. 2024 Nov;226:35-48. doi: 10.1016/j.biochi.2024.03.013. Epub 2024 Mar 28. PMID: 38552867

Increased SNAI2 expression and defective collagen adhesion in cells with pediatric dementia, juvenile ceroid lipofuscinosis.

Kim H, Bae S, Kim SJ. Biochem Biophys Res Commun. 2024 Dec 17;738:150561. doi: 10.1016/j.bbrc.2024.150561. Epub 2024 Aug 15. PMID: 39154552