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Select item 115758371.

Phenotypic variability observed in a Chinese patient cohort with biallelic variants in the CLN genes

Xin Zhang, Ke Xu, Jie Shi, Yue Xie, Nien Li, Weiyu Yan, Zi-Bing Jin, Yang Li

Mol Vis. 2024; 30: 175–187. Published online 2024 Mar 25.

PMCID:: PMC11575837

Abstract Article PDF–8.9M

Select item 115630352.

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

Jimin Han, Sueanne Chear, Jana Talbot, Vicki Swier, Clarissa Booth, Cheyenne Reuben-Thomas, Sonal Dalvi, Jill M. Weimer, Alex W. Hewitt, Anthony L. Cook, Ruchira Singh

Invest Ophthalmol Vis Sci. 2024 Nov; 65(13): 23. Published online 2024 Nov 13. doi: 10.1167/iovs.65.13.23

PMCID:: PMC11563035

Abstract Article PDF–2.7M

Select item 114966623.

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

Seda Yasa, Elisabeth S. Butz, Alessio Colombo, Uma Chandrachud, Luca Montore, Sarah Tschirner, Matthias Prestel, Steven D. Sheridan, Stephan A. Müller, Janos Groh, Stefan F. Lichtenthaler, Sabina Tahirovic, Susan L. Cotman

Commun Biol. 2024; 7: 1373. Published online 2024 Oct 22. doi: 10.1038/s42003-024-07057-w

PMCID:: PMC11496662

Abstract Article PDF–11M

Select item 114510074.

CLN3 transcript complexity revealed by long-read RNA sequencing analysis

Hao-Yu Zhang, Christopher Minnis, Emil Gustavsson, Mina Ryten, Sara E. Mole

BMC Med Genomics. 2024; 17: 244. Published online 2024 Oct 4. doi: 10.1186/s12920-024-02017-z

PMCID:: PMC11451007

Abstract Article PDF–1.9M

Select item 112894535.

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

D. Wünkhaus, R. Tang, K. Nyame, N. N. Laqtom, M. Schweizer, A. Scotto Rosato, E. K. Krogsæter, C. Wollnik, M. Abu-Remaileh, C. Grimm, G. Hermey, R. Kuhn, D. Gruber-Schoffnegger, S. Markmann

Sci Rep. 2024; 14: 17469. Published online 2024 Jul 29. doi: 10.1038/s41598-024-67479-8

PMCID:: PMC11289453

Abstract Article PDF–3.9M

Select item 111145576.

Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments

Kristiina Uusi-Rauva, Aija Kyttälä, Rik van der Kant, Jouni Vesa, Kimmo Tanhuanpää, Jacques Neefjes, Vesa M. Olkkonen, Anu Jalanko

Cell Mol Life Sci. 2012 Jun; 69(12): 2075–2089. Published online 2012 Jan 20. doi: 10.1007/s00018-011-0913-1

PMCID:: PMC11114557

Abstract Article PDF–1.1M

Select item 109497837.

The parent and family impact of CLN3 disease: an observational survey-based study

Angela Schulz, Nita Patel, Jon J. Brudvig, Frank Stehr, Jill M. Weimer, Erika F. Augustine

Orphanet J Rare Dis. 2024; 19: 125. Published online 2024 Mar 18. doi: 10.1186/s13023-024-03119-8

PMCID:: PMC10949783

Abstract Article PDF–1.1M

Select item 107768888.

CLN3 deficiency leads to neurological and metabolic perturbations during early development

Ursula Heins-Marroquin, Randolph R Singh, Simon Perathoner, Floriane Gavotto, Carla Merino Ruiz, Myrto Patraskaki, Gemma Gomez-Giro, Felix Kleine Borgmann, Melanie Meyer, Anaïs Carpentier, Marc O Warmoes, Christian Jäger, Michel Mittelbronn, Jens C Schwamborn, Maria Lorena Cordero-Maldonado, Alexander D Crawford, Emma L Schymanski, Carole L Linster

Life Sci Alliance. 2024 Mar; 7(3): e202302057. Published online 2024 Jan 9. doi: 10.26508/lsa.202302057

PMCID:: PMC10776888

Abstract Article PDF–4.5M

Select item 106558219.

Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons

Sueanne Chear, Sharn Perry, Richard Wilson, Aidan Bindoff, Jana Talbot, Tyson L. Ware, Alexandra Grubman, James C. Vickers, Alice Pébay, Jonathan B. Ruddle, Anna E. King, Alex W. Hewitt, Anthony L. Cook

Dis Model Mech. 2022 Dec 1; 15(12): dmm049651. Published online 2022 Dec 13. doi: 10.1242/dmm.049651

PMCID:: PMC10655821

Abstract Article

Select item 1062809810.

Acidified drinking water improves motor function, prevents tremors and changes disease trajectory in Cln2^R207X mice, a model of late infantile Batten disease

Attila D. Kovács, Jose L. Gonzalez Hernandez, David A. Pearce

Sci Rep. 2023; 13: 19229. Published online 2023 Nov 6. doi: 10.1038/s41598-023-46283-w

PMCID:: PMC10628098

Abstract Article PDF–1.9M

Select item 1051044311.

CLN3 is required for the clearance of glycerophosphodiesters from lysosomes

Nouf N. Laqtom, Wentao Dong, Uche N. Medoh, Andrew L. Cangelosi, Vimisha Dharamdasani, Sze Ham Chan, Tenzin Kunchok, Caroline A. Lewis, Ivonne Heinze, Rachel Tang, Christian Grimm, An N. Dang Do, Forbes D. Porter, Alessandro Ori, David M. Sabatini, Monther Abu-Remaileh

Nature. Author manuscript; available in PMC 2023 Sep 20.

Published in final edited form as: Nature. 2022 Sep; 609(7929): 1005–1011. Published online 2022 Sep 21. doi: 10.1038/s41586-022-05221-y

PMCID:: PMC10510443

Abstract Article PDF–3.4M

Select item 1033065612.

A mouse mutant deficient in both neuronal ceroid lipofuscinosis-associated proteins CLN3 and TPP1

David E. Sleat, Whitney Banach-Petrosky, Katherine E. Larrimore, Yuliya Nemtsova, Jennifer A. Wiseman, Allison Najafi, Dymonn Johnson, Timothy A. Poole, Keigo Takahashi, Jonathan D. Cooper, Peter Lobel

J Inherit Metab Dis. Author manuscript; available in PMC 2024 Jul 1.

Published in final edited form as: J Inherit Metab Dis. 2023 Jul; 46(4): 720–734. Published online 2023 Apr 26. doi: 10.1002/jimd.12619

PMCID:: PMC10330656

Abstract Article PDF–1.7M

Select item 1022736913.

Juvenile CLN3 disease is a lysosomal cholesterol storage disorder: similarities with Niemann-Pick type C disease

Jacinda Chen, Rajesh Kumar Soni, Yimeng Xu, Sabrina Simoes, Feng-Xia Liang, Laura DeFreitas, Robert Hwang, Jr., Jorge Montesinos, Joseph H. Lee, Estela Area-Gomez, Renu Nandakumar, Badri Vardarajan, Catherine Marquer

eBioMedicine. 2023 Jun; 92: 104628. Published online 2023 May 26. doi: 10.1016/j.ebiom.2023.104628

PMCID:: PMC10227369

Abstract Article PDF–3.1M

Select item 1020244514.

Brain Proton MR Spectroscopy Measurements in CLN3 Disease

An N. Dang Do, Eva H. Baker, Cristan A. Farmer, Ariane G. Soldatos, Audrey E. Thurm, Forbes D. Porter

Mol Genet Metab. Author manuscript; available in PMC 2024 May 1.

Published in final edited form as: Mol Genet Metab. 2023 May; 139(1): 107584. Published online 2023 Apr 15. doi: 10.1016/j.ymgme.2023.107584

PMCID:: PMC10202445

Abstract Article PDF–1.2M

Select item 1017898215.

The Effect of Manganese Exposure in Atp13a2-deficient Mice

Sheila M. Fleming, Nicholas A. Santiago, Elizabeth J. Mullin, Shanta Pamphile, Swagata Karkare, Andrew Lemkuhl, Osunde R. Ekhator, Stephen C. Linn, John G. Holden, Diana S. Aga, Jerome A. Roth, Benjamin Liou, Ying Sun, Gary E. Shull, Patrick J. Schultheis

Neurotoxicology. Author manuscript; available in PMC 2023 May 12.

Published in final edited form as: Neurotoxicology. 2018 Jan; 64: 256–266. Published online 2017 Jun 6. doi: 10.1016/j.neuro.2017.06.005

PMCID:: PMC10178982

Abstract Article PDF–958K

Select item 1014921216.

The Batten disease protein CLN3 is important for stress granules dynamics and translational activity

Emily L. Relton, Nicolas J. Roth, Seda Yasa, Abuzar Kaleem, Guido Hermey, Christopher J. Minnis, Sara E. Mole, Tatyana Shelkovnikova, Stephane Lefrancois, Peter J. McCormick, Nicolas Locker

J Biol Chem. 2023 May; 299(5): 104649. Published online 2023 Mar 24. doi: 10.1016/j.jbc.2023.104649

PMCID:: PMC10149212

Abstract Article PDF–3.3M

Select item 1001046017.

Activation of PPARα Exhibits Therapeutic Efficacy in a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis

Malabendu Jana, Debashis Dutta, Jit Poddar, Kalipada Pahan

J Neurosci. 2023 Mar 8; 43(10): 1814–1829. doi: 10.1523/JNEUROSCI.2447-21.2023

PMCID:: PMC10010460

Abstract Article PDF–7.3M

Select item 987930418.

The Unified Batten Disease Rating Scale (UBDRS): Validation and reliability in an independent CLN3 disease sample

Eva Wibbeler, Miriam Nickel, Christoph Schwering, Angela Schulz, Jonathan W. Mink

Eur J Paediatr Neurol. Author manuscript; available in PMC 2023 May 1.

Published in final edited form as: Eur J Paediatr Neurol. 2022 May; 38: 62–65. Published online 2022 Apr 4. doi: 10.1016/j.ejpn.2022.03.005

PMCID:: PMC9879304

Abstract Article PDF–175K

Select item 985991019.

Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease

Joanna Karolina Purzycka-Olewiecka, Katarzyna Hetmańczyk-Sawicka, Tomasz Kmieć, Dominika Szczęśniak, Joanna Trubicka, Maciej Krawczyński, Maciej Pronicki, Agnieszka Ługowska

Metab Brain Dis. 2023; 38(2): 709–715. Published online 2022 Dec 28. doi: 10.1007/s11011-022-01148-5