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Select item 104426581.

Long-term safety and dose escalation of intracerebroventricular CLN5 gene therapy in sheep supports clinical translation for CLN5 Batten disease

Nadia L. Mitchell, Samantha J. Murray, Martin P. Wellby, Graham K. Barrell, Katharina N. Russell, Ashley R. Deane, John R. Wynyard, Madeleine J. Palmer, Anila Pulickan, Phillipa M. Prendergast, Widler Casy, Steven J. Gray, David N. Palmer

Front Genet. 2023; 14: 1212228. Published online 2023 Aug 8. doi: 10.3389/fgene.2023.1212228

PMCID:: PMC10442658

Abstract Article PDF–3.2M

Select item 49501372.

Data on characterizing the gene expression patterns of neuronal ceroid lipofuscinosis genes: CLN1, CLN2, CLN3, CLN5 and their association to interneuron and neurotransmission markers: Parvalbumin and Somatostatin

Helena M. Minye, Anna-Liisa Fabritius, Jouni Vesa, Leena Peltonen

Data Brief. 2016 Sep; 8: 741–749. Published online 2016 Jun 23. doi: 10.1016/j.dib.2016.06.027

PMCID:: PMC4950137

Abstract Article PDF–4.5M

Select item 33474073.

The Role of Ceroid Lipofuscinosis Neuronal Protein 5 (CLN5) in Endosomal Sorting

Aline Mamo, Felix Jules, Karine Dumaresq-Doiron, Santiago Costantino, Stephane Lefrancois

Mol Cell Biol. 2012 May; 32(10): 1855–1866. doi: 10.1128/MCB.06726-11

PMCID:: PMC3347407

Abstract Article PDF–2.2M

Select item 91807484.

Lysosomal Proteomics Links Disturbances in Lipid Homeostasis and Sphingolipid Metabolism to CLN5 Disease

Stefano Doccini, Maria Marchese, Federica Morani, Nicola Gammaldi, Serena Mero, Francesco Pezzini, Rabah Soliymani, Melissa Santi, Giovanni Signore, Asahi Ogi, Silvia Rocchiccioli, Katja M. Kanninen, Alessandro Simonati, Maciej M. Lalowski, Filippo M. Santorelli

Cells. 2022 Jun; 11(11): 1840. Published online 2022 Jun 4. doi: 10.3390/cells11111840

PMCID:: PMC9180748

Abstract Article PDF–2.7M

Select item 54548685.

Induced Pluripotent Stem Cells Derived from a CLN5 Patient Manifest Phenotypic Characteristics of Neuronal Ceroid Lipofuscinoses

Kristiina Uusi-Rauva, Tea Blom, Carina von Schantz-Fant, Tomas Blom, Anu Jalanko, Aija Kyttälä

Int J Mol Sci. 2017 May; 18(5): 955. Published online 2017 May 3. doi: 10.3390/ijms18050955

PMCID:: PMC5454868

Abstract Article PDF–3.7M

Select item 63368846.

Autophagy–lysosome pathway alterations and alpha-synuclein up-regulation in the subtype of neuronal ceroid lipofuscinosis, CLN5 disease

Jessie Adams, Melissa Feuerborn, Joshua A. Molina, Alexa R. Wilden, Babita Adhikari, Theodore Budden, Stella Y. Lee

Sci Rep. 2019; 9: 151. Published online 2019 Jan 17. doi: 10.1038/s41598-018-36379-z

PMCID:: PMC6336884

Abstract Article PDF–3.3M

Select item 106287257.

Efficacy of dual intracerebroventricular and intravitreal CLN5 gene therapy in sheep prompts the first clinical trial to treat CLN5 Batten disease

Samantha J. Murray, Martin P. Wellby, Graham K. Barrell, Katharina N. Russell, Ashley R. Deane, John R. Wynyard, Steven J. Gray, David N. Palmer, Nadia L. Mitchell

Front Pharmacol. 2023; 14: 1212235. Published online 2023 Oct 24. doi: 10.3389/fphar.2023.1212235

PMCID:: PMC10628725

Abstract Article PDF–2.9M

Select item 23233928.

Brain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases

Carina von Schantz, Juha Saharinen, Outi Kopra, Jonathan D Cooper, Massimiliano Gentile, Iiris Hovatta, Leena Peltonen, Anu Jalanko

BMC Genomics. 2008; 9: 146. Published online 2008 Mar 28. doi: 10.1186/1471-2164-9-146

PMCID:: PMC2323392

Abstract Article PDF–1.8M

Select item 45895339.

Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5

Bhagya De Silva, Jessie Adams, Stella Y. Lee

Exp Cell Res. Author manuscript; available in PMC 2016 Oct 15.

Published in final edited form as: Exp Cell Res. 2015 Oct 15; 338(1): 45–53. Published online 2015 Sep 3. doi: 10.1016/j.yexcr.2015.08.021

PMCID:: PMC4589533

Abstract Article PDF–1.3M

Select item 730615010.

Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis

Beenish Azad, Stephanie Efthymiou, Tipu Sultan, Marcello Scala, Javeria Raza Alvi, Caroline Neuray, Natalia Dominik, SYNaPS Study Group, Asma Gul, Henry Houlden

J Neurol Sci. 2020 Jul 15; 414: 116826. doi: 10.1016/j.jns.2020.116826

PMCID:: PMC7306150

Abstract Article

Select item 726821511.

CLN5 in heterozygosis may protect against the development of tumors in a VHL patient

Isabel de Rojas-P, Virginia Albiñana, Lucía Recio-Poveda, Amanda Rodriguez-Rufián, Ángel M. Cuesta, Luisa-María Botella

Orphanet J Rare Dis. 2020; 15: 132. Published online 2020 Jun 2. doi: 10.1186/s13023-020-01410-y

PMCID:: PMC7268215

Abstract Article PDF–1.1M

Select item 853349412.

Deficiency of the Lysosomal Protein CLN5 Alters Lysosomal Function and Movement

Indranil Basak, Rachel A. Hansen, Michael E. Ward, Stephanie M. Hughes

Biomolecules. 2021 Oct; 11(10): 1412. Published online 2021 Sep 27. doi: 10.3390/biom11101412

PMCID:: PMC8533494

Abstract Article PDF–2.8M

Select item 890173413.

Natural history of retinal degeneration in ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinoses

S. J. Murray, N. L. Mitchell

Sci Rep. 2022; 12: 3670. Published online 2022 Mar 7. doi: 10.1038/s41598-022-07612-7

PMCID:: PMC8901734

Abstract Article PDF–7.4M

Select item 911996814.

Characterization of neurological disease progression in a canine model of CLN5 neuronal ceroid lipofuscinosis

Elizabeth J. Meiman, Grace Robinson Kick, Cheryl A. Jensen, Joan R. Coates, Martin L. Katz

Dev Neurobiol. 2022 May-Jun; 82(4): 326–344. Published online 2022 Apr 28. doi: 10.1002/dneu.22878

PMCID:: PMC9119968

Abstract Article PDF–7.9M

Select item 721666915.

A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5

Wei Li, Xin Fan, Yue Zhang, Limei Huang, Tingting Jiang, Zailong Qin, Jiasun Su, Jingrong Luo, Shang Yi, Shujie Zhang, Yiping Shen

BMC Med Genet. 2020; 21: 100. Published online 2020 May 11. doi: 10.1186/s12881-020-01039-5

PMCID:: PMC7216669

Abstract Article PDF–1.1M

Select item 710546516.

Proteomic and functional analyses in disease models reveal CLN5 protein involvement in mitochondrial dysfunction

Stefano Doccini, Federica Morani, Claudia Nesti, Francesco Pezzini, Giulio Calza, Rabah Soliymani, Giovanni Signore, Silvia Rocchiccioli, Katja M. Kanninen, Mikko T. Huuskonen, Marc H. Baumann, Alessandro Simonati, Maciej M. Lalowski, Filippo M. Santorelli

Cell Death Discov. 2020; 6: 18. Published online 2020 Mar 30. doi: 10.1038/s41420-020-0250-y

PMCID:: PMC7105465

Abstract Article PDF–1.8M

Select item 901246717.

Cln5 represents a new type of cysteine-based S-depalmitoylase linked to neurodegeneration

Anna V. Luebben, Daniel Bender, Stefan Becker, Lisa M. Crowther, Ilka Erven, Kay Hofmann, Johannes Söding, Henry Klemp, Cristina Bellotti, Andreas Stäuble, Tian Qiu, Rahul S. Kathayat, Bryan C. Dickinson, Jutta Gärtner, George M. Sheldrick, Ralph Krätzner, Robert Steinfeld

Sci Adv. 2022 Apr; 8(15): eabj8633. Published online 2022 Apr 15. doi: 10.1126/sciadv.abj8633

PMCID:: PMC9012467

Abstract Article PDF–1.6M

Select item 1026276718.

Lysosomal dysfunction, autophagic defects, and CLN5 accumulation underlie the pathogenesis of KCTD7-mutated neuronal ceroid lipofuscinoses

Yalan Wang, Hongyan Wang, Chenji Wang

Autophagy. 2023; 19(6): 1876–1878. Published online 2022 Nov 11. doi: 10.1080/15548627.2022.2140882

PMCID:: PMC10262767

Abstract Article PDF–746K

Select item 508477119.

Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies

A. Kolicheski, G.S. Johnson, D.P. O'Brien, T. Mhlanga‐Mutangadura, D. Gilliam, J. Guo, T.D. Anderson‐Sieg, R.D. Schnabel, J.F. Taylor, A. Lebowitz, B. Swanson, D. Hicks, Z.E. Niman, F.A. Wininger, M.C. Carpentier, M.L. Katz

J Vet Intern Med. 2016 Jul-Aug; 30(4): 1149–1158. Published online 2016 May 20. doi: 10.1111/jvim.13971

PMCID:: PMC5084771

Abstract Article PDF–1.3M

Select item 655542120.

A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs

Natalie A. Villani, Garrett Bullock, Jennifer R. Michaels, Osamu Yamato, Dennis P. O’Brien, Tendai Mhlanga-Mutangadura, Gary S. Johnson, Martin L. Katz

Mol Genet Metab. Author manuscript; available in PMC 2020 May 1.

Published in final edited form as: Mol Genet Metab. 2019 May; 127(1): 107–115. Published online 2019 Apr 17. doi: 10.1016/j.ymgme.2019.04.003