Citations (63)
Keep up to date with the latest research on this topic with citation updates for this article.
Read on this site (4)
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. (2022) Converging roles of PSENEN/PEN2 and CLN3 in the autophagy-lysosome system. Autophagy 18:9, pages 2068-2085.
Read now
Read now
Jonathan B. Rosenberg, Alvin Chen, Stephen M. Kaminsky, Ronald G. Crystal & Dolan Sondhi. (2019) Advances in the treatment of neuronal ceroid lipofuscinosis. Expert Opinion on Orphan Drugs 7:11, pages 473-500.
Read now
Read now
Robert J. Huber, Michael A. Myre & Susan L. Cotman. (2017) Aberrant adhesion impacts early development in a Dictyostelium model for juvenile neuronal ceroid lipofuscinosis. Cell Adhesion & Migration 11:4, pages 399-418.
Read now
Read now
Dolan Sondhi, Jonathan B Rosenberg, Benjamin G Van de Graaf, Stephen M Kaminsky & Ronald G Crystal. (2013) Advances in the treatment of neuronal ceroid lipofuscinosis. Expert Opinion on Orphan Drugs 1:12, pages 951-975.
Read now
Read now
Articles from other publishers (59)
Jillian M. Cameron, John A. Damiano, Bronwyn Grinton, Patrick W. Carney, Penny McKelvie, Peter Silbert, Nicholas Lawn, Ingrid E. Scheffer, Karen L. Oliver, Michael S. Hildebrand & Samuel F. Berkovic. (2023)
Recognition and epileptology of protracted
CLN3
disease
. Epilepsia.
Crossref
Crossref
Joanna Karolina Purzycka-Olewiecka, Katarzyna Hetmańczyk-Sawicka, Tomasz Kmieć, Dominika Szczęśniak, Joanna Trubicka, Maciej Krawczyński, Maciej Pronicki & Agnieszka Ługowska. (2022) Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease. Metabolic Brain Disease 38:2, pages 709-715.
Crossref
Crossref
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. (2022) Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons. Disease Models & Mechanisms 15:12.
Crossref
Crossref
Muhammad Fahad Raza, Muhammad Anwar, Arif Husain, Muhmmad Rizwan, Zhiguo Li, Hongyi Nie, Pavol Hlaváč, M. Ajmal Ali, Ahmed Rady & Songkun Su. (2022) Differential gene expression analysis following olfactory learning in honeybee (Apis mellifera L.). PLOS ONE 17:2, pages e0262441.
Crossref
Crossref
Harvey S. Singer, Jonathan W. Mink, Donald L. Gilbert & Joseph Jankovic. 2022. Movement Disorders in Childhood. Movement Disorders in Childhood
443
533
.
Safoura Reza, Maciej Ugorski & Jarosław Suchański. (2021) Glucosylceramide and galactosylceramide, small glycosphingolipids with significant impact on health and disease. Glycobiology 31:11, pages 1416-1434.
Crossref
Crossref
Anais Franco-Romero & Marco Sandri. (2021) Role of autophagy in muscle disease. Molecular Aspects of Medicine 82, pages 101041.
Crossref
Crossref
Holly N. Haver & K. Matthew Scaglione. (2021) Dictyostelium discoideum as a Model for Investigating Neurodegenerative Diseases. Frontiers in Cellular Neuroscience 15.
Crossref
Crossref
Susan L. Cotman & Stéphane Lefrancois. (2021) CLN3, at the crossroads of endocytic trafficking. Neuroscience Letters 762, pages 136117.
Crossref
Crossref
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. (2021)
Gene correction of the
CLN3
c.175G>A variant in patient‐derived induced pluripotent stem cells prevents pathological changes in retinal organoids
. Molecular Genetics & Genomic Medicine 9:3.
Crossref
Crossref
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. (2021)
Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to
CLN3
Pathogenic Variants in a French Retinitis Pigmentosa Cohort
. JAMA Ophthalmology 139:3, pages 278.
Crossref
Crossref
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. (2021) A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor–RPE interface. Communications Biology 4:1.
Crossref
Crossref
Angela Sun, Irene J. Chang, Christina Lam & Gerard T. Berry. 2021. Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics. Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics
563
682
.
Nicola Specchio, Alessandro Ferretti, Marina Trivisano, Nicola Pietrafusa, Chiara Pepi, Costanza Calabrese, Susanna Livadiotti, Alessandra Simonetti, Paolo Rossi, Paolo Curatolo & Federico Vigevano. (2020) Neuronal Ceroid Lipofuscinosis: Potential for Targeted Therapy. Drugs 81:1, pages 101-123.
Crossref
Crossref
Marjan Huizing & William A. Gahl. (2020) Inherited disorders of lysosomal membrane transporters. Biochimica et Biophysica Acta (BBA) - Biomembranes 1862:12, pages 183336.
Crossref
Crossref
Nihar Kinarivala, Ahmed Morsy, Ronak Patel, Angelica V. Carmona, Md. Sanaullah Sajib, Snehal Raut, Constantinos M. Mikelis, Abraham Al-Ahmad & Paul C. Trippier. (2020) An iPSC-Derived Neuron Model of CLN3 Disease Facilitates Small Molecule Phenotypic Screening. ACS Pharmacology & Translational Science 3:5, pages 931-947.
Crossref
Crossref
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. (2020) Loss of CLN3, the gene mutated in juvenile neuronal ceroid lipofuscinosis, leads to metabolic impairment and autophagy induction in retinal pigment epithelium. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1866:10, pages 165883.
Crossref
Crossref
Elisabeth S. Butz, Uma Chandrachud, Sara E. Mole & Susan L. Cotman. (2020) Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1866:9, pages 165571.
Crossref
Crossref
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. (2020) Differential accumulation of storage bodies with aging defines discrete subsets of microglia in the healthy brain. eLife 9.
Crossref
Crossref
Seda Yasa, Graziana Modica, Etienne Sauvageau, Abuzar Kaleem, Guido Hermey & Stephane Lefrancois. (2020) CLN3 regulates endosomal function by modulating Rab7A effector interactions. Journal of Cell Science.
Crossref
Crossref
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. (2019) The CLN3 gene and protein: What we know. Molecular Genetics & Genomic Medicine 7:12.
Crossref
Crossref
Anton Petcherski, Uma Chandrachud, Elisabeth Butz, Madeleine Klein, Wen-Ning Zhao, Surya Reis, Stephen Haggarty, Mika Ruonala & Susan Cotman. (2019) An Autophagy Modifier Screen Identifies Small Molecules Capable of Reducing Autophagosome Accumulation in a Model of CLN3-Mediated Neurodegeneration. Cells 8:12, pages 1531.
Crossref
Crossref
Abhilash P. Appu, Maria B. Bagh, Tamal Sadhukhan, Avisek Mondal, Sydney Casey & Anil B. Mukherjee. (2019)
Cln3
‐mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl‐protein thioesterases‐1 (Ppt1)‐protein and Ppt1‐enzyme activity in the lysosome
. Journal of Inherited Metabolic Disease 42:5, pages 944-954.
Crossref
Crossref
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. (2019) Lysosomal proteome analysis reveals that CLN3-defective cells have multiple enzyme deficiencies associated with changes in intracellular trafficking. Journal of Biological Chemistry 294:24, pages 9592-9604.
Crossref
Crossref
Lakshya Bajaj, Parisa Lotfi, Rituraj Pal, Alberto di Ronza, Jaiprakash Sharma & Marco Sardiello. (2019) Lysosome biogenesis in health and disease. Journal of Neurochemistry 148:5, pages 573-589.
Crossref
Crossref
Maria Burkovetskaya, Megan E. Bosch, Nikolay Karpuk, Rachel Fallet & Tammy Kielian. (2019) Caspase 1 activity influences juvenile Batten disease (CLN3) pathogenesis. Journal of Neurochemistry 148:5, pages 652-668.
Crossref
Crossref
Tyler B. Johnson, Jacob T. Cain, Katherine A. White, Denia Ramirez-Montealegre, David A. Pearce & Jill M. Weimer. (2019) Therapeutic landscape for Batten disease: current treatments and future prospects. Nature Reviews Neurology 15:3, pages 161-178.
Crossref
Crossref
Meagan McLaren, Sabateeshan Mathavarajah & Robert Huber. (2019) Recent Insights into NCL Protein Function Using the Model Organism Dictyostelium discoideum. Cells 8:2, pages 115.
Crossref
Crossref
Fred K. Chen, Xiao Zhang, Jonathan Eintracht, Dan Zhang, Sukanya Arunachalam, Jennifer A. Thompson, Enid Chelva, Dominic Mallon, Shang-Chih Chen, Terri McLaren, Tina Lamey, John De Roach & Samuel McLenachan. (2018) Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3). Documenta Ophthalmologica 138:1, pages 55-70.
Crossref
Crossref
Elena K. Shematorova, Dmitry G. Shpakovski, Anna D. Chernysheva & George V. Shpakovski. (2018) Molecular mechanisms of the juvenile form of Batten disease: important role of MAPK signaling pathways (ERK1/ERK2, JNK and p38) in pathogenesis of the malady. Biology Direct 13:1.
Crossref
Crossref
Nike Kwai Cheung Lau, Chor Kwan Ching, Hencher Han Chih Lee, Wai Kwong Mario Chak, Ng Kwan Shing, Neil A. Hanchard & Chloe Miu Mak. (2018) First case of genetically confirmed CLN3 disease in Chinese with cDNA sequencing revealing pathogenicity of a novel splice site variant. Clinica Chimica Acta 486, pages 151-155.
Crossref
Crossref
Mark L. Schultz, Luis Tecedor, Elena Lysenko, Shyam Ramachandran, Colleen S. Stein & Beverly L. Davidson. (2018) Modulating membrane fluidity corrects Batten disease phenotypes in vitro and in vivo. Neurobiology of Disease 115, pages 182-193.
Crossref
Crossref
Aleksandra Somogyi, Anton Petcherski, Benedikt Beckert, Mylene Huebecker, David Priestman, Antje Banning, Susan Cotman, Frances Platt, Mika Ruonala & Ritva Tikkanen. (2018) Altered Expression of Ganglioside Metabolizing Enzymes Results in GM3 Ganglioside Accumulation in Cerebellar Cells of a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis. International Journal of Molecular Sciences 19:2, pages 625.
Crossref
Crossref
John A. Burns, Alexandros A. Pittis & Eunsoo Kim. (2018) Gene-based predictive models of trophic modes suggest Asgard archaea are not phagocytotic. Nature Ecology & Evolution 2:4, pages 697-704.
Crossref
Crossref
Jaime Cárcel‐Trullols, Attila D. Kovács & David A. Pearce. (2017) Role of the Lysosomal Membrane Protein, CLN3, in the Regulation of Cathepsin D Activity. Journal of Cellular Biochemistry 118:11, pages 3883-3890.
Crossref
Crossref
Maria Burkovetskaya, Nikolay Karpuk & Tammy Kielian. (2017) Age-dependent alterations in neuronal activity in the hippocampus and visual cortex in a mouse model of Juvenile Neuronal Ceroid Lipofuscinosis (CLN3). Neurobiology of Disease 100, pages 19-29.
Crossref
Crossref
Michela Palmieri, Rituraj Pal, Hemanth R. Nelvagal, Parisa Lotfi, Gary R. Stinnett, Michelle L. Seymour, Arindam Chaudhury, Lakshya Bajaj, Vitaliy V. Bondar, Laura Bremner, Usama Saleem, Dennis Y. Tse, Deepthi Sanagasetti, Samuel M. Wu, Joel R. Neilson, Fred A. Pereira, Robia G. Pautler, George G. Rodney, Jonathan D. Cooper & Marco Sardiello. (2017) mTORC1-independent TFEB activation via Akt inhibition promotes cellular clearance in neurodegenerative storage diseases. Nature Communications 8:1.
Crossref
Crossref
Venkaiah Betapudi. 2017. Genome Analysis and Human Health. Genome Analysis and Human Health
79
107
.
Jonathan D. J. Labonne, Yiping Shen, Il-Keun Kong, Michael P. Diamond, Lawrence C. Layman & Hyung-Goo Kim. (2016) Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability. Molecular Cytogenetics 9:1.
Crossref
Crossref
Sandra Oetjen, Dietmar Kuhl & Guido Hermey. (2016) Revisiting the neuronal localization and trafficking of CLN3 in juvenile neuronal ceroid lipofuscinosis. Journal of Neurochemistry 139:3, pages 456-470.
Crossref
Crossref
Megan E. Bosch, Amy Aldrich, Rachel Fallet, Jessica Odvody, Maria Burkovetskaya, Kaitlyn Schuberth, Julie A. Fitzgerald, Kevin D. Foust & Tammy Kielian. (2016) Self-Complementary AAV9 Gene Delivery Partially Corrects Pathology Associated with Juvenile Neuronal Ceroid Lipofuscinosis (CLN3). The Journal of Neuroscience 36:37, pages 9669-9682.
Crossref
Crossref
Samantha L. Hersrud, Attila D. Kovács & David A. Pearce. (2016) Antigen presenting cell abnormalities in the Cln3 −/− mouse model of juvenile neuronal ceroid lipofuscinosis. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1862:7, pages 1324-1336.
Crossref
Crossref
E. P. Nuzhnyi, A. F. Yakimovskii, A. A. Timofeeva, T. S. Usenko, M. A. Nikolaev, A. K. Emelyanov, V. I. Amosov, E. V. Bubnova, A. M. Boukina, E. Yu. Zakharova & S. N. Pchelina. (2016) Mutation del 1,02kb in the CLN3 gene and extrapyramidal syndrome. Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova 116:8, pages 50.
Crossref
Crossref
Megan E. Bosch & Tammy Kielian. (2015) Neuroinflammatory paradigms in lysosomal storage diseases. Frontiers in Neuroscience 9.
Crossref
Crossref
Frank Stehr & Herman van der Putten. (2015) Bridging NCL research gaps. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1852:10, pages 2324-2328.
Crossref
Crossref
Romina Kohan, Favio Pesaola, Norberto Guelbert, Patricia Pons, Ana María Oller-Ramírez, Gisela Rautenberg, Adriana Becerra, Katherine Sims, Winnie Xin, Inés Adriana Cismondi & Inés Noher de Halac. (2015) The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1852:10, pages 2301-2311.
Crossref
Crossref
Richard Bergholz, Alfried Kohlschütter, Angela Schulz, Waltraud Hubert & Klaus Rüther. (2014) Phenotyping heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with CLN3 mutations. Graefe's Archive for Clinical and Experimental Ophthalmology 253:8, pages 1245-1250.
Crossref
Crossref
Uma Chandrachud, Mathew W. Walker, Alexandra M. Simas, Sasja Heetveld, Anton Petcherski, Madeleine Klein, Hyejin Oh, Pavlina Wolf, Wen-Ning Zhao, Stephanie Norton, Stephen J. Haggarty, Emyr Lloyd-Evans & Susan L. Cotman. (2015) Unbiased Cell-based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction between Ca2+ Homeostasis, Autophagy, and CLN3 Protein Function. Journal of Biological Chemistry 290:23, pages 14361-14380.
Crossref
Crossref
Robert J. Huber, Michael A. Myre & Susan L. Cotman. (2014) Loss of Cln3 Function in the Social Amoeba Dictyostelium discoideum Causes Pleiotropic Effects That Are Rescued by Human CLN3. PLoS ONE 9:10, pages e110544.
Crossref
Crossref
Venkaiah Betapudi. (2014) Life without double-headed non-muscle myosin II motor proteins. Frontiers in Chemistry 2.
Crossref
Crossref
Mark L. Schultz, Luis Tecedor, Colleen S. Stein, Mark A. Stamnes & Beverly L. Davidson. (2014) CLN3 Deficient Cells Display Defects in the ARF1-Cdc42 Pathway and Actin-Dependent Events. PLoS ONE 9:5, pages e96647.
Crossref
Crossref
Xenia Lojewski, John F. Staropoli, Sunita Biswas-Legrand, Alexandra M. Simas, Larissa Haliw, Martin K. Selig, Scott H. Coppel, Kendrick A. Goss, Anton Petcherski, Uma Chandrachud, Steven D. Sheridan, Diane Lucente, Katherine B. Sims, James F. Gusella, Dolan Sondhi, Ronald G. Crystal, Peter Reinhardt, Jared Sterneckert, Hans Schöler, Stephen J. Haggarty, Alexander Storch, Andreas Hermann & Susan L. Cotman. (2014) Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway. Human Molecular Genetics 23:8, pages 2005-2022.
Crossref
Crossref
Dan Wu, Jing Liu, Baiyan Wu, Bo Tu, Weiguo Zhu & Jianyuan Luo. (2014) The Batten disease gene CLN3 confers resistance to endoplasmic reticulum stress induced by tunicamycin. Biochemical and Biophysical Research Communications 447:1, pages 115-120.
Crossref
Crossref
Robert SealockHua ZhangJennifer L. LucittiScott M. MooreJames E. Faber. (2014) Congenic Fine-Mapping Identifies a Major Causal Locus for Variation in the Native Collateral Circulation and Ischemic Injury in Brain and Lower Extremity. Circulation Research 114:4, pages 660-671.
Crossref
Crossref
Luis Tecedor, Colleen S. Stein, Mark L. Schultz, Hany Farwanah, Konrad Sandhoff & Beverly L. Davidson. (2013) CLN3 Loss Disturbs Membrane Microdomain Properties and Protein Transport in Brain Endothelial Cells. The Journal of Neuroscience 33:46, pages 18065-18079.
Crossref
Crossref
Katrin Kollmann, Kristiina Uusi-Rauva, Enzo Scifo, Jaana Tyynelä, Anu Jalanko & Thomas Braulke. (2013) Cell biology and function of neuronal ceroid lipofuscinosis-related proteins. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1832:11, pages 1866-1881.
Crossref
Crossref
Stuart W. PeltzManal MorsyEllen M. WelchAllan Jacobson. (2013) Ataluren as an Agent for Therapeutic Nonsense Suppression. Annual Review of Medicine 64:1, pages 407-425.
Crossref
Crossref
Sarah M. Heissler & Dietmar J. Manstein. (2012) Nonmuscle myosin-2: mix and match. Cellular and Molecular Life Sciences 70:1, pages 1-21.
Crossref
Crossref
John F. Staropoli, Larissa Haliw, Sunita Biswas, Lillian Garrett, Sabine M. Hölter, Lore Becker, Sergej Skosyrski, Patricia Da Silva-Buttkus, Julia Calzada-Wack, Frauke Neff, Birgit Rathkolb, Jan Rozman, Anja Schrewe, Thure Adler, Oliver Puk, Minxuan Sun, Jack Favor, Ildikó Racz, Raffi Bekeredjian, Dirk H. Busch, Jochen Graw, Martin Klingenspor, Thomas Klopstock, Eckhard Wolf, Wolfgang Wurst, Andreas Zimmer, Edith Lopez, Hayat Harati, Eric Hill, Daniela S. Krause, Jolene Guide, Ella Dragileva, Evan Gale, Vanessa C. Wheeler, Rose-Mary Boustany, Diane E. Brown, Sylvie Breton, Klaus Ruether, Valérie Gailus-Durner, Helmut Fuchs, Martin Hrabě de Angelis & Susan L. Cotman. (2012) Large-Scale Phenotyping of an Accurate Genetic Mouse Model of JNCL Identifies Novel Early Pathology Outside the Central Nervous System. PLoS ONE 7:6, pages e38310.
Crossref
Crossref