PMC Articles for MedGen (Select 761331) - PMC

Meixiang Huang, Erica Modeste, Eric Dammer, Paola Merino, Georgia Taylor, Duc M. Duong, Qiudong Deng, Christopher J. Holler, Marla Gearing, Dennis Dickson, Nicholas T. Seyfried, Thomas Kukar

Acta Neuropathol Commun. 2020; 8: 163. Published online 2020 Oct 7. doi: 10.1186/s40478-020-01037-x

PMCID:: PMC7541308

Abstract Article PDF–4.2M

Select item 100194884.

Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes

Masha Kolesnikova, Jose Ronaldo Lima de Carvalho, Jr., Jin Kyun Oh, Megan Soucy, Aykut Demirkol, Angela H. Kim, Stephen H. Tsang, Mark P. Breazzano

Invest Ophthalmol Vis Sci. 2023 Mar; 64(3): 23. Published online 2023 Mar 13. doi: 10.1167/iovs.64.3.23

PMCID:: PMC10019488

Abstract Article PDF–3.5M

Select item 42540245.

Progressive Retinal Degeneration and Accumulation of Autofluorescent Lipopigments in Progranulin Deficient Mice

Brian P. Hafler, Zoe A. Klein, Z. Jimmy Zhou, Stephen M. Strittmatter

Brain Res. Author manuscript; available in PMC 2015 Nov 7.

Published in final edited form as: Brain Res. 2014 Nov 7; 1588: 168–174. Published online 2014 Sep 16. doi: 10.1016/j.brainres.2014.09.023

PMCID:: PMC4254024

Abstract Article PDF–869K

Select item 82324836.

Neuronal Ceroid Lipofuscinoses in Children

Mahesh Kamate, Narendranadha Reddy, Mayank Detroja, Virupaxi Hattiholi

Ann Indian Acad Neurol. 2021 Mar-Apr; 24(2): 192–197. Published online 2021 Apr 28. doi: 10.4103/aian.AIAN_61_20

PMCID:: PMC8232483

Abstract Article PDF–876K

Select item 62625277.

Neuronal Ceroid Lipofuscinoses: Connecting Calcium Signalling through Calmodulin

Sabateeshan Mathavarajah, Danton H. O’Day, Robert J. Huber

Cells. 2018 Nov; 7(11): 188. Published online 2018 Oct 29. doi: 10.3390/cells7110188

PMCID:: PMC6262527

Abstract Article PDF–748K

Select item 113191308.

Magnetic resonance imaging pattern recognition of metabolic and neurodegenerative encephalopathies in dogs and cats

María Miguel-Garcés, Rita Gonçalves, Rodrigo Quintana, Patricia Álvarez, Katrin M. Beckmann, Emili Alcoverro, Melania Moioli, Edward J. Ives, Megan Madden, Sergio A. Gomes, Evelyn Galban, Tim Bentley, Koen M. Santifort, An Vanhaesebrouck, Chiara Briola, Patricia Montoliu, Unai Ibaseta, Inés Carrera

Front Vet Sci. 2024; 11: 1390971. Published online 2024 Jul 30. doi: 10.3389/fvets.2024.1390971

PMCID:: PMC11319130

Abstract Article PDF–2.6M

Select item 45674819.

Genetics of the Neuronal Ceroid Lipofuscinoses (Batten disease)

Sara E Mole, Susan L. Cotman

Biochim Biophys Acta. Author manuscript; available in PMC 2016 Oct 1.

Published in final edited form as: Biochim Biophys Acta. 2015 Oct; 1852(10 0 0): 2237–2241. Published online 2015 May 27. doi: 10.1016/j.bbadis.2015.05.011

PMCID:: PMC4567481

Abstract Article PDF–242K

Select item 839045210.

Outcomes of progranulin gene therapy in the retina are dependent on time and route of delivery

Emilia A. Zin, Daisy Han, Jennifer Tran, Nikolas Morisson-Welch, Meike Visel, Mervi Kuronen, John G. Flannery

Mol Ther Methods Clin Dev. 2021 Sep 10; 22: 40–51. Published online 2021 May 29. doi: 10.1016/j.omtm.2021.05.009

PMCID:: PMC8390452

Abstract Article PDF–2.5M

Select item 560337811.

Role of the lysosomal membrane protein, CLN3, in the regulation of cathepsin D activity

Jaime Cárcel-Trullols, Attila D. Kovács, David A. Pearce

J Cell Biochem. Author manuscript; available in PMC 2018 Nov 1.

Published in final edited form as: J Cell Biochem. 2017 Nov; 118(11): 3883–3890. Published online 2017 May 23. doi: 10.1002/jcb.26039

PMCID:: PMC5603378

Abstract Article PDF–887K

Select item 191458712.

The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population.

T. Varilo, M. Savukoski, R. Norio, P. Santavuori, L. Peltonen, I. Järvelä

Am J Hum Genet. 1996 Mar; 58(3): 506–512.

PMCID:: PMC1914587

Summary Page Browse PDF–1.2M

Select item 474170413.

Bortezomib enhances expression of effector molecules in anti-tumor CD8⁺ T lymphocytes by promoting Notch-nuclear factor-κB crosstalk

Menaka C. Thounaojam, Duafalia F. Dudimah, Samuel T. Pellom, Jr., Roman V. Uzhachenko, David P. Carbone, Mikhail M. Dikov, Anil Shanker

Oncotarget. 2015 Oct 20; 6(32): 32439–32455. Published online 2015 Sep 28. doi: 10.18632/oncotarget.5857

PMCID:: PMC4741704

Abstract Article PDF–7.5M

Select item 483390114.

Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis

Ryan D. Geraets, Seung yon Koh, Michelle L. Hastings, Tammy Kielian, David A. Pearce, Jill M. Weimer

Orphanet J Rare Dis. 2016; 11: 40. Published online 2016 Apr 16. doi: 10.1186/s13023-016-0414-2

PMCID:: PMC4833901

Abstract Article PDF–974K

Select item 493969515.

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

Eleanna Kara, Arianna Tucci, Claudia Manzoni, David S. Lynch, Marilena Elpidorou, Conceicao Bettencourt, Viorica Chelban, Andreea Manole, Sherifa A. Hamed, Nourelhoda A. Haridy, Monica Federoff, Elisavet Preza, Deborah Hughes, Alan Pittman, Zane Jaunmuktane, Sebastian Brandner, Georgia Xiromerisiou, Sarah Wiethoff, Lucia Schottlaender, Christos Proukakis, Huw Morris, Tom Warner, Kailash P. Bhatia, L.V. Prasad Korlipara, Andrew B. Singleton, John Hardy, Nicholas W. Wood, Patrick A. Lewis, Henry Houlden

Brain. 2016 Jul; 139(7): 1904–1918. Published online 2016 May 23. doi: 10.1093/brain/aww111

PMCID:: PMC4939695

Abstract Article PDF–1.8M

Select item 186763516.

Homogeneous Polymerase Chain Reaction Nucleobase Quenching Assay to Detect the 1-kbp Deletion in CLN3 That Causes Batten Disease

Paul G. Rothberg, Denia Ramirez-Montealegre, Sharon D. Frazier, David A. Pearce

J Mol Diagn. 2004 Aug; 6(3): 260–263. doi: 10.1016/S1525-1578(10)60519-3

PMCID:: PMC1867635

Abstract Article PDF–135K

Select item 552661017.

Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis

Michael E. Ward, Robert Chen, Hsin-Yi Huang, Connor Ludwig, Maria Telpoukhovskaia, Ali Taubes, Helene Boudin, Sakura S. Minami, Meredith Reichert, Philipp Albrecht, Jeffrey M. Gelfand, Andres Cruz-Herranz, Christian Cordano, Marcel V. Alavi, Shannon Leslie, William W. Seeley, Bruce L. Miller, Eileen Bigio, Marek-Marsel Mesulam, Matthew S. Bogyo, Ian R. Mackenzie, John F. Staropoli, Susan L. Cotman, Eric J. Huang, Li Gan, Ari J. Green

Sci Transl Med. Author manuscript; available in PMC 2017 Jul 25.

Published in final edited form as: Sci Transl Med. 2017 Apr 12; 9(385): eaah5642. doi: 10.1126/scitranslmed.aah5642

PMCID:: PMC5526610

Abstract Article PDF–922K

Select item 556229818.

Intracellular Proteolysis of Progranulin Generates Stable, Lysosomal Granulins that Are Haploinsufficient in Patients with Frontotemporal Dementia Caused by GRN Mutations

Christopher J. Holler, Georgia Taylor, Qiudong Deng, Thomas Kukar

eNeuro. 2017 Jul-Aug; 4(4): ENEURO.0100-17.2017. Prepublished online 2017 Aug 9. Published online 2017 Aug 18. doi: 10.1523/ENEURO.0100-17.2017

PMCID:: PMC5562298

Abstract Article PDF–4.8M

Select item 556996919.

Aberrant adhesion impacts early development in a Dictyostelium model for juvenile neuronal ceroid lipofuscinosis

Robert J. Huber, Michael A. Myre, Susan L. Cotman

Cell Adh Migr. 2017; 11(4): 399–418. Published online 2016 Sep 26. doi: 10.1080/19336918.2016.1236179

PMCID:: PMC5569969

Abstract Article PDF–1.5M

Select item 470172220.

Reversible Cysteine Acylation Regulates the Activity of Human Palmitoyl-Protein Thioesterase 1 (PPT1)

Michal Segal-Salto, Tamar Sapir, Orly Reiner

PLoS One. 2016; 11(1): e0146466. Published online 2016 Jan 5. doi: 10.1371/journal.pone.0146466

PMCID:: PMC4701722

Abstract Article PDF–5.2M

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