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Select item 111145571.

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 107768882.

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 105104433.

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 103179694.

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 101492125.

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 94062406.

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 93974727.

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 92626148.

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 92483629.

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 912641310.

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 816503011.

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 810417412.

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 797343413.

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 786494714.

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 784469315.

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 764232716.

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 744350517.

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

Select item 693781218.

Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis

Gemma Gomez-Giro, Jonathan Arias-Fuenzalida, Javier Jarazo, Dagmar Zeuschner, Muhammad Ali, Nina Possemis, Silvia Bolognin, Rashi Halder, Christian Jäger, Willemijn F. E. Kuper, Peter M. van Hasselt, Holm Zaehres, Antonio del Sol, Herman van der Putten, Hans R. Schöler, Jens C. Schwamborn

Acta Neuropathol Commun. 2019; 7: 222. Published online 2019 Dec 30. doi: 10.1186/s40478-019-0871-7

PMCID:: PMC6937812

Abstract Article PDF–4.4M

Select item 690038619.

The CLN3 gene and protein: What we know

Myriam Mirza, Anna Vainshtein, Alberto DiRonza, Uma Chandrachud, Luke J. Haslett, Michela Palmieri, Stephan Storch, Janos Groh, Niv Dobzinski, Gennaro Napolitano, Carolin Schmidtke, Danielle M. Kerkovich

Mol Genet Genomic Med. 2019 Dec; 7(12): e859. Published online 2019 Sep 30. doi: 10.1002/mgg3.859

PMCID:: PMC6900386

Abstract Article PDF–3.5M

Select item 673912320.

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

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PMC Links for GEO Profiles (Select 69334990) (62)
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Fludarabine, cyclophosphamide, and rituximab chemoimmunotherapy effect on chroni...
Fludarabine, cyclophosphamide, and rituximab chemoimmunotherapy effect on chronic lymphocytic leukemia
Accession: GDS3829

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Related DataSets for GEO Profiles (Select 69335327) (1)
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HAX1P1 HAX1 pseudogene 1 [Homo sapiens]
HAX1P1 HAX1 pseudogene 1 [Homo sapiens]
Gene ID:100129661

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