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Select item 106280981.

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 105104432.

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 103306563.

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 100803204.

Early postnatal administration of an AAV9 gene therapy is safe and efficacious in CLN3 disease

Tyler B. Johnson, Jon J. Brudvig, Shibi Likhite, Melissa A. Pratt, Katherine A. White, Jacob T. Cain, Clarissa D. Booth, Derek J. Timm, Samantha S. Davis, Brandon Meyerink, Ricardo Pineda, Cassandra Dennys-Rivers, Brian K. Kaspar, Kathrin Meyer, Jill M. Weimer

Front Genet. 2023; 14: 1118649. Published online 2023 Mar 24. doi: 10.3389/fgene.2023.1118649

PMCID:: PMC10080320

Abstract Article PDF–6.2M

Select item 95223295.

Lysosomal cathepsin D mediates endogenous mucin glycodomain catabolism in mammals

Kayvon Pedram, Nouf N. Laqtom, D. Judy Shon, Alessandro Di Spiezio, Nicholas M. Riley, Paul Saftig, Monther Abu-Remaileh, Carolyn R. Bertozzi

Proc Natl Acad Sci U S A. 2022 Sep 27; 119(39): e2117105119. Published online 2022 Sep 19. doi: 10.1073/pnas.2117105119

PMCID:: PMC9522329

Abstract Article PDF–2.3M

Select item 93974726.

Converging roles of PSENEN/PEN2 and CLN3 in the autophagy-lysosome system

Marcel Klein, Abuzar Kaleem, Sandra Oetjen, Daniela Wünkhaus, Lars Binkle, Sandra Schilling, Milena Gjorgjieva, Ralf Scholz, Doris Gruber-Schoffnegger, Stephan Storch, Stefan Kins, Gerard Drewes, Sabine Hoffmeister-Ullerich, Dietmar Kuhl, Guido Hermey

Autophagy. 2022; 18(9): 2068–2085. Published online 2021 Dec 29. doi: 10.1080/15548627.2021.2016232

PMCID:: PMC9397472

Abstract Article PDF–4.5M

Select item 91264137.

Loss of CLN3, the gene mutated in juvenile neuronal ceroid lipofuscinosis, leads to metabolic impairment and autophagy induction in retina pigment epithelium

Yu Zhong, Kabhilan Mohan, Jinpeng Liu, Ahmad Al-Attar, Penghui Lin, Robert M. Flight, Qiushi Sun, Marc O. Warmoes, Rahul R. Deshpande, Huijuan Liu, Kyung Sik Jung, Mihail I. Mitov, Nianwei Lin, D. Allan Butterfield, Shuyan Lu, Jinze Liu, Hunter N. B. Moseley, Teresa W. M. Fan, Mark E. Kleinman, Qing Jun Wang

Biochim Biophys Acta Mol Basis Dis. Author manuscript; available in PMC 2022 May 23.

Published in final edited form as: Biochim Biophys Acta Mol Basis Dis. 2020 Oct 1; 1866(10): 165883. Published online 2020 Jun 25. doi: 10.1016/j.bbadis.2020.165883

PMCID:: PMC9126413

Abstract Article PDF–3.7M

Select item 80087098.

Therapeutic efficacy of antisense oligonucleotides in mouse models of CLN3 Batten disease

Jessica L. Centa, Francine M. Jodelka, Anthony J. Hinrich, Tyler B. Johnson, Joseph Ochaba, Michaela Jackson, Dominik M. Duelli, Jill M. Weimer, Frank Rigo, Michelle L. Hastings

Nat Med. Author manuscript; available in PMC 2021 Mar 30.

Published in final edited form as: Nat Med. 2020 Sep; 26(9): 1444–1451. Published online 2020 Jul 27. doi: 10.1038/s41591-020-0986-1

PMCID:: PMC8008709

Abstract Article PDF–4.7M

Select item 75318649.

Sex differences in gene expression with galactosylceramide treatment in Cln3^Δex7/8 mice

Joelle Makoukji, Sally El-Sitt, Nadine J. Makhoul, Jihane Soueid, Humam Kadara, Rose-Mary Boustany

PLoS One. 2020; 15(10): e0239537. Published online 2020 Oct 2. doi: 10.1371/journal.pone.0239537

PMCID:: PMC7531864

Abstract Article PDF–1.4M

Select item 736768210.

Differential accumulation of storage bodies with aging defines discrete subsets of microglia in the healthy brain

Jeremy Carlos Burns, Bunny Cotleur, Dirk M Walther, Bekim Bajrami, Stephen J Rubino, Ru Wei, Nathalie Franchimont, Susan L Cotman, Richard M Ransohoff, Michael Mingueneau

eLife. 2020; 9: e57495. Published online 2020 Jun 24. doi: 10.7554/eLife.57495

PMCID:: PMC7367682

Abstract Article PDF–5.3M

Select item 732437911.

A tailored Cln3^Q352X mouse model for testing therapeutic interventions in CLN3 Batten disease

Logan Langin, Tyler B. Johnson, Attila D. Kovács, David A. Pearce, Jill M. Weimer

Sci Rep. 2020; 10: 10591. Published online 2020 Jun 29. doi: 10.1038/s41598-020-67478-5

PMCID:: PMC7324379

Abstract Article PDF–3.3M

Select item 723341312.

Astrocytes in Juvenile Neuronal Ceroid Lipofuscinosis (CLN3) display metabolic and calcium signaling abnormalities

Megan E. Bosch, Tammy Kielian

J Neurochem. Author manuscript; available in PMC 2020 May 18.

Published in final edited form as: J Neurochem. 2019 Mar; 148(5): 612–624. Published online 2018 Aug 16. doi: 10.1111/jnc.14545

PMCID:: PMC7233413

Abstract Article PDF–954K

Select item 694876513.

Neuronal network dysfunction precedes storage and neurodegeneration in a lysosomal storage disorder

Rebecca C. Ahrens-Nicklas, Luis Tecedor, Arron F. Hall, Elena Lysenko, Akiva S. Cohen, Beverly L. Davidson, Eric D. Marsh

JCI Insight. 2019 Nov 1; 4(21): e131961. Published online 2019 Nov 1. doi: 10.1172/jci.insight.131961

PMCID:: PMC6948765

Abstract Article PDF–6.8M

Select item 680221214.

Changes in motor behavior, neuropathology, and gut microbiota of a Batten disease mouse model following administration of acidified drinking water

Tyler B. Johnson, Logan M. Langin, Jing Zhao, Jill M. Weimer, David A. Pearce, Attila D. Kovács

Sci Rep. 2019; 9: 14962. Published online 2019 Oct 18. doi: 10.1038/s41598-019-51488-z

PMCID:: PMC6802212

Abstract Article PDF–11M

Select item 674984715.

Combined Anti-inflammatory and Neuroprotective Treatments Have the Potential to Impact Disease Phenotypes in Cln3^−/− Mice

Marta A. Tarczyluk-Wells, Christoph Salzlechner, Allison R. Najafi, Ming J. Lim, David Smith, Frances M. Platt, Brenda P. Williams, Jonathan D. Cooper

Front Neurol. 2019; 10: 963. Published online 2019 Sep 11. doi: 10.3389/fneur.2019.00963

PMCID:: PMC6749847

Abstract Article PDF–2.3M

Select item 673912316.

Cln3-mutations underlying juvenile NCL cause significantly reduced levels of Ppt1-protein and Ppt1-enzyme activity in the lysosome

Abhilash P. Appu, Maria B. Bagh, Tamal Sadhukhan, Avisek Mondal, Sydney Casey, Anil B. Mukherjee

J Inherit Metab Dis. Author manuscript; available in PMC 2020 Sep 1.

Published in final edited form as: J Inherit Metab Dis. 2019 Sep; 42(5): 944–954. Published online 2019 May 14. doi: 10.1002/jimd.12106

PMCID:: PMC6739123

Abstract Article PDF–1.1M

Select item 667265417.

A Knock-In Reporter Model of Batten Disease

Steven L. Eliason, Colleen S. Stein, Qinwen Mao, Luis Tecedor, Song-Lin Ding, D. Meredith Gaines, Beverly L. Davidson

J Neurosci. 2007 Sep 12; 27(37): 9826–9834. doi: 10.1523/JNEUROSCI.1710-07.2007

PMCID:: PMC6672654

Abstract Article PDF–316K

Select item 657945218.

Lysosomal proteome analysis reveals that CLN3-defective cells have multiple enzyme deficiencies associated with changes in intracellular trafficking

Carolin Schmidtke, Stephan Tiede, Melanie Thelen, Reijo Käkelä, Sabrina Jabs, Georgia Makrypidi, Marc Sylvester, Michaela Schweizer, Ingke Braren, Nahal Brocke-Ahmadinejad, Susan L. Cotman, Angela Schulz, Volkmar Gieselmann, Thomas Braulke

J Biol Chem. 2019 Jun 14; 294(24): 9592–9604. Published online 2019 Apr 30. doi: 10.1074/jbc.RA119.008852

PMCID:: PMC6579452

Abstract Article PDF–1.6M

Select item 638963519.

Developmental Comparison of Ceramide in Wild-Type and Cln3^Δex7/8 Mouse Brains and Sera

Sally El-Sitt, Jihane Soueid, Jamal Al Ali, Joelle Makoukji, Nadine J. Makhoul, Hayat Harati, Rose-Mary Boustany

Front Neurol. 2019; 10: 128. Published online 2019 Feb 19. doi: 10.3389/fneur.2019.00128

PMCID:: PMC6389635

Abstract Article PDF–1.6M

Select item 617699920.

Immunomodulation with minocycline rescues retinal degeneration in juvenile neuronal ceroid lipofuscinosis mice highly susceptible to light damage

Katharina Dannhausen, Christoph Möhle, Thomas Langmann

Dis Model Mech. 2018 Sep 1; 11(9): dmm033597. Published online 2018 Sep 5. doi: 10.1242/dmm.033597

PMCID:: PMC6176999

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