PMC Links for Gene (Select 1203) - PMC

Result Filters

Links from Gene

Items: 1 to 20 of 30

<< First< Prev

Page of 2

Select item 102627671.

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 85334942.

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 80958833.

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

Summary PDF–124K

Select item 78446944.

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

Abstract Article

Select item 73061505.

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 72682156.

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 72166697.

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 45895338.

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 37692449.

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

Abstract Article PDF–5.9M

Select item 191830310.

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

Summary Page Browse PDF–1.0M

Select item 660195011.

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

Abstract Article PDF–2.7M

Select item 617108212.

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

Abstract Article PDF–2.6M

Select item 616898413.

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

Abstract Article PDF–2.6M

Select item 36313514.

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

Abstract Article PDF–1.1M

Select item 901246715.

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