{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T19:17:34Z","timestamp":1793128654162,"version":"4.5.0"},"reference-count":59,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,7,29]],"date-time":"2024-07-29T00:00:00Z","timestamp":1722211200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2024,7,29]],"date-time":"2024-07-29T00:00:00Z","timestamp":1722211200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"name":"NCL foundation"},{"name":"Sarafan ChEM-H Chemistry\/Biology Interface Program"},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["HE 3220\/4-1"],"award-info":[{"award-number":["HE 3220\/4-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci Rep"],"DOI":"10.1038\/s41598-024-67479-8","type":"journal-article","created":{"date-parts":[[2024,7,30]],"date-time":"2024-07-30T02:01:32Z","timestamp":1722304892000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["TRPML1 activation ameliorates lysosomal phenotypes in CLN3 deficient retinal pigment epithelial cells"],"prefix":"10.1038","volume":"14","author":[{"given":"D.","family":"W\u00fcnkhaus","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Tang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Nyame","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. N.","family":"Laqtom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Schweizer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Scotto Rosato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. K.","family":"Krogs\u00e6ter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Wollnik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Abu-Remaileh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Grimm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Hermey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Kuhn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Gruber-Schoffnegger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Markmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,7,29]]},"reference":[{"key":"67479_CR1","doi-asserted-by":"publisher","first-page":"79","DOI":"10.2217\/clp.11.70","volume":"7","author":"SL Cotman","year":"2012","unstructured":"Cotman, S. L. & Staropoli, J. F. The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking. Clin. Lipidol. 7, 79\u201391 (2012).","journal-title":"Clin. Lipidol."},{"key":"67479_CR2","doi-asserted-by":"publisher","first-page":"949","DOI":"10.1016\/0092-8674(95)90274-0","volume":"82","author":"TJ Lerner","year":"1995","unstructured":"Lerner, T. J. et al. Isolation of a novel gene underlying batten disease, CLN3. Cell 82, 949\u2013957 (1995).","journal-title":"Cell"},{"key":"67479_CR3","doi-asserted-by":"publisher","first-page":"2242","DOI":"10.1016\/j.bbadis.2015.04.027","volume":"1852","author":"J C\u00e1rcel-Trullols","year":"2015","unstructured":"C\u00e1rcel-Trullols, J., Kov\u00e1cs, A. D. & Pearce, D. A. Cell biology of the NCL proteins: What they do and don\u2019t do. Biochim. Biophys. Acta Mol. Basis Dis. 1852, 2242\u20132255 (2015).","journal-title":"Biochim. Biophys. Acta Mol. Basis Dis."},{"key":"67479_CR4","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/mgg3.859","volume":"7","author":"M Mirza","year":"2019","unstructured":"Mirza, M. et al. The CLN3 gene and protein: What we know. Mol. Genet. Genomic Med. 7, 1\u201341 (2019).","journal-title":"Mol. Genet. Genomic Med."},{"key":"67479_CR5","doi-asserted-by":"publisher","first-page":"3017","DOI":"10.1093\/hmg\/ddh321","volume":"13","author":"K Luiro","year":"2004","unstructured":"Luiro, K., Yliannala, K., Ahtiainen, L., Maunu, H. & Ja, I. Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway. Hum. Mol. Genet. 13, 3017\u20133027 (2004).","journal-title":"Hum. Mol. Genet."},{"key":"67479_CR6","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1371\/journal.pone.0055526","volume":"8","author":"JM Vidal-Donet","year":"2013","unstructured":"Vidal-Donet, J. M., C\u00e1rcel-Trullols, J., Casanova, B., Aguado, C. & Knecht, E. Alterations in ROS activity and lysosomal pH account for distinct patterns of macroautophagy in LINCL and JNCL fibroblasts. PLoS One 8, 33 (2013).","journal-title":"PLoS One"},{"key":"67479_CR7","doi-asserted-by":"publisher","first-page":"2075","DOI":"10.1007\/s00018-011-0913-1","volume":"69","author":"K Uusi-Rauva","year":"2012","unstructured":"Uusi-Rauva, K. et al. Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments. Cell. Mol. Life Sci. 69, 2075\u20132089 (2012).","journal-title":"Cell. Mol. Life Sci."},{"key":"67479_CR8","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1242\/jcs.234047","volume":"133","author":"S Yasa","year":"2020","unstructured":"Yasa, S. et al. CLN3 regulates endosomal function by modulating Rab7A-effector interactions. J. Cell Sci. 133, 1\u201314 (2020).","journal-title":"J. Cell Sci."},{"key":"67479_CR9","first-page":"1","volume":"00","author":"M Klein","year":"2021","unstructured":"Klein, M. et al. Converging roles of PSENEN\/PEN2 and CLN3 in the autophagy-lysosome system. Autophagy 00, 1\u201318 (2021).","journal-title":"Autophagy"},{"key":"67479_CR10","doi-asserted-by":"publisher","first-page":"456","DOI":"10.1111\/jnc.13744","volume":"139","author":"S Oetjen","year":"2016","unstructured":"Oetjen, S., Kuhl, D. & Hermey, G. Revisiting the neuronal localization and trafficking of CLN3 in juvenile neuronal ceroid lipofuscinosis. J. Neurochem. 139, 456\u2013470 (2016).","journal-title":"J. Neurochem."},{"key":"67479_CR11","doi-asserted-by":"publisher","first-page":"1019","DOI":"10.1016\/j.febslet.2008.02.049","volume":"582","author":"T Nugent","year":"2008","unstructured":"Nugent, T., Mole, S. E. & Jones, D. T. The transmembrane topology of Batten disease protein CLN3 determined by consensus computational prediction constrained by experimental data. FEBS Lett. 582, 1019\u20131024 (2008).","journal-title":"FEBS Lett."},{"key":"67479_CR12","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1371\/journal.pone.0102593","volume":"9","author":"E Ratajczak","year":"2014","unstructured":"Ratajczak, E., Petcherski, A., Ramos-Moreno, J. & Ruonala, M. O. FRET-assisted determination of CLN3 membrane topology. PLoS One 9, 21\u201323 (2014).","journal-title":"PLoS One"},{"key":"67479_CR13","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/1471-2202-5-57","volume":"5","author":"E Fossale","year":"2004","unstructured":"Fossale, E. et al. Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis. BMC Neurosci. 5, 1\u201313 (2004).","journal-title":"BMC Neurosci."},{"key":"67479_CR14","first-page":"1","volume":"e13742","author":"C Soldati","year":"2021","unstructured":"Soldati, C. et al. Repurposing of tamoxifen ameliorates CLN 3 and CLN 7 disease phenotype. EMBO Mol. Med. e13742, 1\u201319 (2021).","journal-title":"EMBO Mol. Med."},{"key":"67479_CR15","doi-asserted-by":"crossref","unstructured":"Laqtom, N. N. et al. CLN3 is required for the clearance of glycerophosphodiesters from lysosomes. Nature (2022).","DOI":"10.1038\/s41586-022-05221-y"},{"key":"67479_CR16","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1016\/j.bbrc.2007.04.064","volume":"358","author":"JA Hobert","year":"2007","unstructured":"Hobert, J. A. & Dawson, G. A novel role of the Batten disease gene CLN3: Association with BMP synthesis. Biochem. Biophys. Res. Commun. 358, 111\u2013116 (2007).","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"67479_CR17","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/s42003-021-01682-5","volume":"4","author":"C Tang","year":"2021","unstructured":"Tang, C. et al. A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor\u2013RPE interface. Commun. Biol. 4, 1\u201318 (2021).","journal-title":"Commun. Biol."},{"key":"67479_CR18","doi-asserted-by":"crossref","unstructured":"Zhong, Y. et al. Loss of CLN3, the gene mutated in juvenile neuronal ceroid lipofuscinosis, leads to metabolic impairment and autophagy induction in retina pigment epithelium. Biochim. Biophys. Acta (BBA)-Mol.Basis Dis. 1866, 165883 (2020).","DOI":"10.1016\/j.bbadis.2020.165883"},{"key":"67479_CR19","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/s41598-019-46708-5","volume":"9","author":"V Tedeschi","year":"2019","unstructured":"Tedeschi, V. et al. The activation of Mucolipin TRP channel 1 (TRPML1) protects motor neurons from L-BMAA neurotoxicity by promoting autophagic clearance. Sci. Rep. 9, 1\u201311 (2019).","journal-title":"Sci. Rep."},{"key":"67479_CR20","doi-asserted-by":"publisher","first-page":"427","DOI":"10.1016\/j.devcel.2015.04.010","volume":"33","author":"Q Cao","year":"2015","unstructured":"Cao, Q. et al. BK channels alleviate lysosomal storage diseases by providing positive feedback regulation of lysosomal Ca2+ release. Dev. Cell 33, 427\u2013441 (2015).","journal-title":"Dev. Cell"},{"key":"67479_CR21","first-page":"E1373","volume":"112","author":"W Wang","year":"2015","unstructured":"Wang, W. et al. Up-regulation of lysosomal TRPML1 channels is essential for lysosomal adaptation to nutrient starvation. Proc. Natl. Acad. Sci. USA 112, E1373\u2013E1381 (2015).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"67479_CR22","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1126\/sciadv.aaz2736","volume":"6","author":"L Yu","year":"2020","unstructured":"Yu, L. et al. Small-molecule activation of lysosomal TRP channels ameliorates Duchenne muscular dystrophy in mouse models. Sci. Adv. 6, 34 (2020).","journal-title":"Sci. Adv."},{"key":"67479_CR23","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1038\/ncomms1735","volume":"3","author":"D Shen","year":"2012","unstructured":"Shen, D. et al. Lipid storage disorders block lysosomal trafficking by inhibiting a TRP channel and lysosomal calcium release. Nat. Commun. 3, 111 (2012).","journal-title":"Nat. Commun."},{"key":"67479_CR24","doi-asserted-by":"publisher","first-page":"11485","DOI":"10.1523\/JNEUROSCI.0210-14.2014","volume":"34","author":"M Bae","year":"2014","unstructured":"Bae, M. et al. Activation of TRPML1 clears intraneuronal A\u03b2 in preclinical models of HIV infection. J. Neurosci. 34, 11485\u201311503 (2014).","journal-title":"J. Neurosci."},{"key":"67479_CR25","doi-asserted-by":"publisher","first-page":"8424","DOI":"10.1074\/jbc.M116.772160","volume":"292","author":"Q Cao","year":"2017","unstructured":"Cao, Q., Yang, Y., Zhong, X. Z. & Dong, X. P. The lysosomal Ca2+ release channel TRPML1 regulates lysosome size by activating calmodulin. J. Biol. Chem. 292, 8424\u20138435 (2017).","journal-title":"J. Biol. Chem."},{"key":"67479_CR26","doi-asserted-by":"publisher","first-page":"404","DOI":"10.1038\/ncb3324","volume":"18","author":"X Li","year":"2016","unstructured":"Li, X. et al. A molecular mechanism to regulate lysosome motility for lysosome positioning and tubulation. Nat. Cell Biol. 18, 404\u2013417 (2016).","journal-title":"Nat. Cell Biol."},{"key":"67479_CR27","doi-asserted-by":"publisher","first-page":"5630","DOI":"10.1038\/s41467-019-13572-w","volume":"10","author":"A Scotto Rosato","year":"2019","unstructured":"Scotto Rosato, A. et al. TRPML1 links lysosomal calcium to autophagosome biogenesis through the activation of the CaMKK\u03b2\/VPS34 pathway. Nat. Commun. 10, 5630 (2019).","journal-title":"Nat. Commun."},{"key":"67479_CR28","doi-asserted-by":"publisher","first-page":"288","DOI":"10.1038\/ncb3114","volume":"17","author":"DL Medina","year":"2015","unstructured":"Medina, D. L. et al. Lysosomal calcium signalling regulates autophagy through calcineurin and TFEB. Nat. Cell Biol. 17, 288\u2013299 (2015).","journal-title":"Nat. Cell Biol."},{"key":"67479_CR29","doi-asserted-by":"publisher","first-page":"2005","DOI":"10.1093\/hmg\/ddt596","volume":"23","author":"X Lojewski","year":"2014","unstructured":"Lojewski, X. et al. Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway. Hum. Mol. Genet. 23, 2005\u20132022 (2014).","journal-title":"Hum. Mol. Genet."},{"key":"67479_CR30","doi-asserted-by":"publisher","DOI":"10.15252\/emmm.202115377","volume":"14","author":"A Scotto Rosato","year":"2022","unstructured":"Scotto Rosato, A. et al. TPC 2 rescues lysosomal storage in mucolipidosis type IV, Niemann\u2014Pick type C 1, and Batten disease. EMBO Mol. Med. 14, e15377 (2022).","journal-title":"EMBO Mol. Med."},{"key":"67479_CR31","volume":"24","author":"K Hongo","year":"2020","unstructured":"Hongo, K. et al. Massive accumulation of globotriaosylceramide in various tissues from a Fabry patient with a high antibody titer against alpha-galactosidase A after 6 years of enzyme replacement therapy. Mol. Genet. Metab. Rep. 24, 100623 (2020).","journal-title":"Mol. Genet. Metab. Rep."},{"key":"67479_CR32","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1038\/32440","volume":"392","author":"T Kobayashi","year":"1998","unstructured":"Kobayashi, T. et al. A lipid associated with the antiphospholipid syndrome regulates endosome structure and function. Nature 392, 193\u2013197 (1998).","journal-title":"Nature"},{"key":"67479_CR33","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1016\/S0022-2275(20)41698-0","volume":"18","author":"J Brotherus","year":"1977","unstructured":"Brotherus, J. & Renkonen, O. Subcellular distributions of lipids in cultured BHK cells: Evidence for the enrichment of lysobisphosphatidic acid and neutral lipids in lysosomes. J. Lipid Res. 18, 191\u2013202 (1977).","journal-title":"J. Lipid Res."},{"key":"67479_CR34","doi-asserted-by":"publisher","first-page":"1594","DOI":"10.1007\/s11064-010-0337-6","volume":"36","author":"HD Gallala","year":"2011","unstructured":"Gallala, H. D. & Sandhoff, K. Biological function of the cellular lipid BMP-BMP as a key activator for cholesterol sorting and membrane digestion. Neurochem. Res. 36, 1594\u20131600 (2011).","journal-title":"Neurochem. Res."},{"key":"67479_CR35","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1111\/tra.12715","volume":"21","author":"J Gruenberg","year":"2020","unstructured":"Gruenberg, J. Life in the lumen: The multivesicular endosome. Traffic 21, 76\u201393 (2020).","journal-title":"Traffic"},{"key":"67479_CR36","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1038\/s41467-022-33500-9","volume":"13","author":"S Boland","year":"2022","unstructured":"Boland, S. et al. Deficiency of the frontotemporal dementia gene GRN results in gangliosidosis. Nat. Commun. 13, 71 (2022).","journal-title":"Nat. Commun."},{"key":"67479_CR37","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbc.2021.100813","volume":"297","author":"O Ilnytska","year":"2021","unstructured":"Ilnytska, O. et al. Enrichment of NPC1-deficient cells with the lipid LBPA stimulates autophagy, improves lysosomal function, and reduces cholesterol storage. J. Biol. Chem. 297, 100813 (2021).","journal-title":"J. Biol. Chem."},{"key":"67479_CR38","doi-asserted-by":"publisher","first-page":"1","DOI":"10.15252\/embr.201847055","volume":"20","author":"D Moreau","year":"2019","unstructured":"Moreau, D. et al. Drug-induced increase in lysobisphosphatidic acid reduces the cholesterol overload in Niemann\u2013Pick type C cells and mice. EMBO Rep. 20, 1\u201315 (2019).","journal-title":"EMBO Rep."},{"key":"67479_CR39","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1016\/j.devcel.2013.08.003","volume":"26","author":"M Samie","year":"2014","unstructured":"Samie, M. et al. A TRP channel in the lysosome regulates large particle phagocytosis via focal exocytosis. Dev. Cell 26, 511\u2013524 (2014).","journal-title":"Dev. Cell"},{"key":"67479_CR40","doi-asserted-by":"publisher","first-page":"3852","DOI":"10.1093\/hmg\/ddr306","volume":"20","author":"M Palmieri","year":"2011","unstructured":"Palmieri, M. et al. Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways. Hum. Mol. Genet. 20, 3852\u20133866 (2011).","journal-title":"Hum. Mol. Genet."},{"key":"67479_CR41","doi-asserted-by":"publisher","first-page":"111","DOI":"10.15252\/embj.201798804","volume":"37","author":"R Puertollano","year":"2018","unstructured":"Puertollano, R., Ferguson, S. M., Brugarolas, J. & Ballabio, A. The complex relationship between TFEB transcription factor phosphorylation and subcellular localization. EMBO J 37, 111 (2018).","journal-title":"EMBO J"},{"key":"67479_CR42","doi-asserted-by":"publisher","first-page":"20483","DOI":"10.1074\/jbc.M602180200","volume":"281","author":"Y Cao","year":"2006","unstructured":"Cao, Y. et al. Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis. J. Biol. Chem. 281, 20483\u201320493 (2006).","journal-title":"J. Biol. Chem."},{"issue":"332","key":"67479_CR43","doi-asserted-by":"publisher","first-page":"1429","DOI":"10.1126\/science.1204592","volume":"1979","author":"C Settembre","year":"2011","unstructured":"Settembre, C. et al. TFEB links autophagy to lysosomal biogenesis. Science 1979(332), 1429\u20131433 (2011).","journal-title":"Science"},{"key":"67479_CR44","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1080\/15548627.2015.1100356","volume":"12","author":"DJ Klionsky","year":"2016","unstructured":"Klionsky, D. J. et al. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy 12, 1\u2013222 (2016).","journal-title":"Autophagy"},{"key":"67479_CR45","doi-asserted-by":"publisher","first-page":"421","DOI":"10.1016\/j.devcel.2011.07.016","volume":"21","author":"DL Medina","year":"2011","unstructured":"Medina, D. L. et al. Transcriptional activation of lysosomal exocytosis promotes cellular clearance. Dev. Cell 21, 421\u2013430 (2011).","journal-title":"Dev. Cell"},{"key":"67479_CR46","doi-asserted-by":"crossref","unstructured":"Andrews, N. W. Detection of lysosomal exocytosis by surface exposure of Lamp1 luminal epitopes. Lysosomes Methods Protoc. Methods Mol. Biol. 1594, 366\u2013419 (2017).","DOI":"10.1007\/978-1-4939-6934-0_13"},{"key":"67479_CR47","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1016\/S1474-4422(18)30368-5","volume":"18","author":"SE Mole","year":"2019","unstructured":"Mole, S. E. et al. Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis. Lancet Neurol 18, 107\u2013116 (2019).","journal-title":"Lancet Neurol"},{"key":"67479_CR48","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1016\/j.oret.2019.11.005","volume":"4","author":"GA Wright","year":"2020","unstructured":"Wright, G. A. et al. Juvenile Batten disease (CLN3): Detailed ocular phenotype, novel observations, delayed diagnosis, masquerades, and prospects for therapy. Ophthalmol. Retina 4, 433\u2013445 (2020).","journal-title":"Ophthalmol. Retina"},{"key":"67479_CR49","doi-asserted-by":"publisher","first-page":"751","DOI":"10.1038\/s41436-020-01035-3","volume":"23","author":"AN Dang Do","year":"2021","unstructured":"Dang Do, A. N. et al. Neurofilament light chain levels correlate with clinical measures in CLN3 disease. Genet. Med. 23, 751\u2013757 (2021).","journal-title":"Genet. Med."},{"key":"67479_CR50","doi-asserted-by":"publisher","first-page":"3911","DOI":"10.1038\/s41467-023-39643-7","volume":"14","author":"A Calcagni\u2019","year":"2023","unstructured":"Calcagni\u2019, A. et al. Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation. Nat. Commun. 14, 3911 (2023).","journal-title":"Nat. Commun."},{"key":"67479_CR51","doi-asserted-by":"publisher","first-page":"9592","DOI":"10.1074\/jbc.RA119.008852","volume":"294","author":"C Schmidtke","year":"2019","unstructured":"Schmidtke, C. et al. Lysosomal proteome analysis reveals that CLN3-defective cells have multiple enzyme deficiencies associated with changes in intracellular trafficking. J. Biol. Chem. 294, 9592\u20139604 (2019).","journal-title":"J. Biol. Chem."},{"key":"67479_CR52","doi-asserted-by":"publisher","first-page":"1354","DOI":"10.1016\/j.molcel.2024.02.006","volume":"84","author":"K Nyame","year":"2024","unstructured":"Nyame, K. et al. Glycerophosphodiesters inhibit lysosomal phospholipid catabolism in Batten disease. Mol. Cell 84, 1354-1364.e9 (2024).","journal-title":"Mol. Cell"},{"key":"67479_CR53","doi-asserted-by":"publisher","DOI":"10.1101\/2024.05.17.594681","author":"D Saarela","year":"2024","unstructured":"Saarela, D. et al. Tagless LysoIP method for molecular profiling of lysosomal content in clinical samples. bioRxiv https:\/\/doi.org\/10.1101\/2024.05.17.594681 (2024).","journal-title":"bioRxiv"},{"key":"67479_CR54","doi-asserted-by":"crossref","unstructured":"Centa, J. L. et al. Therapeutic efficacy of antisense oligonucleotides in mouse models of CLN3 Batten disease. Nat. Med. Lett. (2020).","DOI":"10.1038\/s41591-020-0986-1"},{"key":"67479_CR55","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.2447-21.2023","author":"J Malabendu","year":"2023","unstructured":"Malabendu, J., Debashis, D. & Jit, P. Activation of PPAR\u03b1 exhibits therapeutic efficacy in a mouse model of juvenile neuronal ceroid lipofuscinosis. J. Neurosci. https:\/\/doi.org\/10.1523\/JNEUROSCI.2447-21.2023 (2023).","journal-title":"J. Neurosci."},{"key":"67479_CR56","doi-asserted-by":"publisher","first-page":"1070","DOI":"10.1086\/521954","volume":"81","author":"B Venugopal","year":"2007","unstructured":"Venugopal, B. et al. Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV. Am. J. Hum. Genet. 81, 1070\u20131083 (2007).","journal-title":"Am. J. Hum. Genet."},{"key":"67479_CR57","first-page":"13928","volume":"8","author":"E Jin","year":"2015","unstructured":"Jin, E. et al. Evidence of a novel gene HERPUD1 in polypoidal choroidal vasculopathy. Int. J. Clin. Exp. Pathol. 8, 13928\u201313944 (2015).","journal-title":"Int. J. Clin. Exp. Pathol."},{"key":"67479_CR58","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/s41598-022-05836-1","volume":"12","author":"A Giri","year":"2022","unstructured":"Giri, A. & Sundar, I. K. Evaluation of stable reference genes for qPCR normalization in circadian studies related to lung inflammation and injury in mouse model. Sci. Rep. 12, 1\u201314 (2022).","journal-title":"Sci. Rep."},{"key":"67479_CR59","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1016\/j.jbiotec.2004.07.001","volume":"114","author":"A Pachot","year":"2004","unstructured":"Pachot, A., Blond, J. L., Mougin, B. & Miossec, P. Peptidylpropyl isomerase B (PPIB): A suitable reference gene for mRNA quantification in peripheral whole blood. J. Biotechnol. 114, 121\u2013124 (2004).","journal-title":"J. Biotechnol."}],"container-title":["Scientific Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41598-024-67479-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-024-67479-8","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-024-67479-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,30]],"date-time":"2024-07-30T02:03:38Z","timestamp":1722305018000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41598-024-67479-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,29]]},"references-count":59,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["67479"],"URL":"https:\/\/doi.org\/10.1038\/s41598-024-67479-8","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2023.06.21.545896","asserted-by":"object"}]},"ISSN":["2045-2322"],"issn-type":[{"value":"2045-2322","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7,29]]},"assertion":[{"value":"19 December 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 July 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 July 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"17469"}}