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Select item 114966621.

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 114510072.

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 112894533.

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 111145574.

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 107768885.

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 105104436.

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 103179697.

Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation

Alessia Calcagni’, Leopoldo Staiano, Nicolina Zampelli, Nadia Minopoli, Niculin J. Herz, Giuseppe Di Tullio, Tuong Huynh, Jlenia Monfregola, Alessandra Esposito, Carmine Cirillo, Aleksandar Bajic, Mahla Zahabiyon, Rachel Curnock, Elena Polishchuk, Luke Parkitny, Diego Luis Medina, Nunzia Pastore, Peter J. Cullen, Giancarlo Parenti, Maria Antonietta De Matteis, Paolo Grumati, Andrea Ballabio

Nat Commun. 2023; 14: 3911. Published online 2023 Jul 3. doi: 10.1038/s41467-023-39643-7

PMCID:: PMC10317969

Abstract Article PDF–13M

Select item 101492128.

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 94062409.

Characterizing Upper Limb Function in the Context of Activities of Daily Living in CLN3 Disease

Hanna Hildenbrand, Jordan Wickstrom, Rebecca Parks, Cris Zampieri, Thuy-Tien Nguyen, Audrey Thurm, Kisha Jenkins, Katharine E. Alter, Jesse Matsubara, Dylan Hammond, Ariane Soldatos, Forbes D. Porter, An N. Dang Do

Am J Med Genet A. Author manuscript; available in PMC 2022 Aug 25.

Published in final edited form as: Am J Med Genet A. 2021 May; 185(5): 1399–1413. Published online 2021 Feb 8. doi: 10.1002/ajmg.a.62114

PMCID:: PMC9406240

Abstract Article PDF–993K

Select item 939747210.

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 926261411.

A dual-activity topoisomerase complex regulates mRNA translation and turnover

Shuaikun Su, Yutong Xue, Alexei Sharov, Yongqing Zhang, Seung Kyu Lee, Jennifer L Martindale, Wen Li, Wai Lim Ku, Keji Zhao, Supriyo De, Weiping Shen, Payel Sen, Myriam Gorospe, Dongyi Xu, Weidong Wang

Nucleic Acids Res. 2022 Jul 8; 50(12): 7013–7033. Published online 2022 Jun 24. doi: 10.1093/nar/gkac538

PMCID:: PMC9262614

Abstract Article PDF–3.6M

Select item 924836212.

A diagnostic confidence scheme for CLN3 disease

Margaux C. Masten, Camille Corre, Alex R. Paciorkowski, Amy Vierhile, Heather R. Adams, Jennifer Vermilion, Grace A. Zimmerman, Erika F. Augustine, Jonathan W. Mink

J Inherit Metab Dis. Author manuscript; available in PMC 2022 Nov 1.

Published in final edited form as: J Inherit Metab Dis. 2021 Nov; 44(6): 1453–1462. Published online 2021 Sep 7. doi: 10.1002/jimd.12429

PMCID:: PMC9248362

Abstract Article PDF–242K

Select item 912641313.

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 816503014.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 810417415.

Gene correction of the CLN3 c.175G>A variant in patient‐derived induced pluripotent stem cells prevents pathological changes in retinal organoids

Xiao Zhang, Dan Zhang, Jennifer A. Thompson, Shang‐Chih Chen, Zhiqin Huang, Luke Jennings, Terri L. McLaren, Tina M. Lamey, John N. De Roach, Fred K. Chen, Samuel McLenachan

Mol Genet Genomic Med. 2021 Mar; 9(3): e1601. Published online 2021 Jan 26. doi: 10.1002/mgg3.1601

PMCID:: PMC8104174

Abstract Article PDF–1.3M

Select item 797343416.

Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease

Christopher J. Minnis, StJohn Townsend, Julia Petschnigg, Elisa Tinelli, Jürg Bähler, Claire Russell, Sara E. Mole

Sci Rep. 2021; 11: 6332. Published online 2021 Mar 18. doi: 10.1038/s41598-021-85471-4

Correction in:: Sci Rep. 2021; 11: 14198.

PMCID:: PMC7973434

Abstract Article PDF–2.0M

Select item 786494717.

A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor–RPE interface

Cynthia Tang, Jimin Han, Sonal Dalvi, Kannan Manian, Lauren Winschel, Stefanie Volland, Celia A. Soto, Chad A. Galloway, Whitney Spencer, Michael Roll, Caroline Milliner, Vera L. Bonilha, Tyler B. Johnson, Lisa Latchney, Jill M. Weimer, Erika F. Augustine, Jonathan W. Mink, Vamsi K. Gullapalli, Mina Chung, David S. Williams, Ruchira Singh

Commun Biol. 2021; 4: 161. Published online 2021 Feb 5. doi: 10.1038/s42003-021-01682-5

PMCID:: PMC7864947

Abstract Article PDF–3.4M

Select item 784469318.

Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort

Vasily M. Smirnov, Marco Nassisi, Cyntia Solis Hernandez, Cécile Méjécase, Said El Shamieh, Christel Condroyer, Aline Antonio, Isabelle Meunier, Camille Andrieu, Sabine Defoort-Dhellemmes, Saddek Mohand-Said, José-Alain Sahel, Isabelle Audo, Christina Zeitz

JAMA Ophthalmol. 2021 Mar; 139(3): 278–291. Published online 2021 Jan 28. doi: 10.1001/jamaophthalmol.2020.6089

Correction in:: JAMA Ophthalmol. 2021 Dec; 139(12): 1324.

PMCID:: PMC7844693

Abstract Article

Select item 764232719.

A trimeric Rab7 GEF controls NPC1-dependent lysosomal cholesterol export

Dick J. H. van den Boomen, Agata Sienkiewicz, Ilana Berlin, Marlieke L. M. Jongsma, Daphne M. van Elsland, J. Paul Luzio, Jacques J. C. Neefjes, Paul J. Lehner

Nat Commun. 2020; 11: 5559. Published online 2020 Nov 3. doi: 10.1038/s41467-020-19032-0

PMCID:: PMC7642327

Abstract Article PDF–12M

Select item 744350520.

Modulation of Kv4.2/KChIP3 interaction by the ceroid lipofuscinosis neuronal 3 protein CLN3

Carolin Seifert, Stephan Storch, Robert Bähring

J Biol Chem. 2020 Aug 21; 295(34): 12099–12110. Published online 2020 Jul 7. doi: 10.1074/jbc.RA120.013828

PMCID:: PMC7443505

Abstract Article PDF–1.4M

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