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Items: 1 to 20 of 30

1.
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
AbstractArticlePDF–746K
2.
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
AbstractArticlePDF–2.8M
3.
The Genetic Spectrum of Human Neuronal Ceroid‐lipofuscinoses
Sara E. Mole
Brain Pathol. 2004 Jan; 14(1): 70–76. Published online 2006 Apr 5. doi: 10.1111/j.1750-3639.2004.tb00500.x
PMCID:
PMC8095883
SummaryPDF–124K
4.
Association of the Recurrent Rare Variant c.415T>C p.Phe139Leu in CLN5 With a Recessively Inherited Macular Dystrophy
Moustafa S. Magliyah, Sinje Geuer, Abrar K. Alsalamah, Steffen Lenzner, Mojgan Drasdo, Patrik Schatz
JAMA Ophthalmol. 2021 Mar; 139(3): 1–5. Published online 2021 Jan 28. doi: 10.1001/jamaophthalmol.2020.6085
PMCID:
PMC7844694
AbstractArticle
5.
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
AbstractArticle
6.
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
AbstractArticlePDF–1.1M
7.
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
AbstractArticlePDF–1.1M
8.
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
AbstractArticlePDF–1.3M
9.
The Role of N-Glycosylation in Folding, Trafficking, and Functionality of Lysosomal Protein CLN5
Akshay Moharir, Sun H. Peck, Theodore Budden, Stella Y. Lee
PLoS One. 2013; 8(9): e74299. Published online 2013 Sep 10. doi: 10.1371/journal.pone.0074299
PMCID:
PMC3769244
AbstractArticlePDF–5.9M
10.
Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses.
M. Savukoski, M. Kestilä, R. Williams, I. Järvelä, J. Sharp, J. Harris, P. Santavuori, M. Gardiner, L. Peltonen
Am J Hum Genet. 1994 Oct; 55(4): 695–701.
PMCID:
PMC1918303
SummaryPage BrowsePDF–1.0M
11.
An EEG Investigation of Sleep Homeostasis in Healthy and CLN5 Batten Disease Affected Sheep
Nicholas Perentos, Amadeu Q. Martins, Robin J. M. Cumming, Nadia L. Mitchell, David N. Palmer, Stephen J. Sawiak, A. Jennifer Morton
J Neurosci. 2016 Aug 3; 36(31): 8238–8249. doi: 10.1523/JNEUROSCI.4295-15.2016
PMCID:
PMC6601950
AbstractArticlePDF–2.7M
12.
Longitudinal In Vivo Monitoring of the CNS Demonstrates the Efficacy of Gene Therapy in a Sheep Model of CLN5 Batten Disease
Nadia L. Mitchell, Katharina N. Russell, Martin P. Wellby, Hollie E. Wicky, Lucia Schoderboeck, Graham K. Barrell, Tracy R. Melzer, Steven J. Gray, Stephanie M. Hughes, David N. Palmer
Mol Ther. 2018 Oct 3; 26(10): 2366–2378. Published online 2018 Jul 17. doi: 10.1016/j.ymthe.2018.07.015
PMCID:
PMC6171082
AbstractArticlePDF–2.6M
13.
An Alzheimer's Disease-Linked Loss-of-Function CLN5 Variant Impairs Cathepsin D Maturation, Consistent with a Retromer Trafficking Defect
Yasir H. Qureshi, Vivek M. Patel, Diego E. Berman, Milankumar J. Kothiya, Jessica L. Neufeld, Badri Vardarajan, Min Tang, Dolly Reyes-Dumeyer, Rafael Lantigua, Martin Medrano, Ivonne J. Jiménez-Velázquez, Scott A. Small, Christiane Reitz
Mol Cell Biol. 2018 Oct 15; 38(20): e00011-18. Prepublished online 2018 Jul 23. Published online 2018 Sep 28. doi: 10.1128/MCB.00011-18
PMCID:
PMC6168984
AbstractArticlePDF–2.6M
14.
Two Motifs Target Batten Disease Protein CLN3 to Lysosomes in Transfected Nonneuronal and Neuronal Cells
Aija Kyttälä, Gudrun Ihrke, Jouni Vesa, Michael J. Schell, J. Paul Luzio
Mol Biol Cell. 2004 Mar; 15(3): 1313–1323. doi: 10.1091/mbc.E03-02-0120
PMCID:
PMC363135
AbstractArticlePDF–1.1M
15.
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
AbstractArticlePDF–1.6M
16.
Neuronal Ceroid Lipofuscinoses Are Connected at Molecular Level: Interaction of CLN5 Protein with CLN2 and CLN3
Jouni Vesa, Mark H. Chin, Kathrin Oelgeschläger, Juha Isosomppi, Esteban C. DellAngelica, Anu Jalanko, Leena Peltonen
Mol Biol Cell. 2002 Jul; 13(7): 2410–2420. doi: 10.1091/mbc.E02-01-0031
PMCID:
PMC117323
AbstractArticlePDF–1.1M
17.
VEGF-mediated disruption of endothelial CLN-5 promotes blood-brain barrier breakdown
Azeb Tadesse Argaw, Blake T. Gurfein, Yueting Zhang, Andleeb Zameer, Gareth R. John
Proc Natl Acad Sci U S A. 2009 Feb 10; 106(6): 1977–1982. Published online 2009 Jan 27. doi: 10.1073/pnas.0808698106
PMCID:
PMC2644149
AbstractArticlePDF–998K
18.
KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses
Yalan Wang, Xiaotong Cao, Pei Liu, Weijia Zeng, Rui Peng, Qing Shi, Kai Feng, Pingzhao Zhang, Huiru Sun, Chenji Wang, Hongyan Wang
Sci Adv. 2022 Aug; 8(31): eabm5578. Published online 2022 Aug 3. doi: 10.1126/sciadv.abm5578
PMCID:
PMC9348797
AbstractArticlePDF–6.7M
19.
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
AbstractArticlePDF–2.2M
20.
Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins
Annina Lyly, Carina von Schantz, Claudia Heine, Mia-Lisa Schmiedt, Tessa Sipilä, Anu Jalanko, Aija Kyttälä
BMC Cell Biol. 2009; 10: 83. Published online 2009 Nov 26. doi: 10.1186/1471-2121-10-83
PMCID:
PMC2790443
AbstractArticlePDF–2.0M

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