PMC Articles for MedGen (Select 761331) - PMC

Result Filters

Links from MedGen

Items: 1 to 20 of 100

<< First< Prev

Page of 5

Select item 100194881.

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 75413082.

Network analysis of the progranulin-deficient mouse brain proteome reveals pathogenic mechanisms shared in human frontotemporal dementia caused by GRN mutations

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 58305203.

Progranulin Gene Therapy Improves Lysosomal Dysfunction and Microglial Pathology Associated with Frontotemporal Dementia and Neuronal Ceroid Lipofuscinosis

Andrew E. Arrant, Vincent C. Onyilo, Daniel E. Unger, Erik D. Roberson

J Neurosci. 2018 Feb 28; 38(9): 2341–2358. doi: 10.1523/JNEUROSCI.3081-17.2018

PMCID:: PMC5830520

Abstract Article PDF–5.4M

Select item 51220304.

Using the social amoeba Dictyostelium to study the functions of proteins linked to neuronal ceroid lipofuscinosis

Robert J. Huber

J Biomed Sci. 2016; 23: 83. Published online 2016 Nov 24. doi: 10.1186/s12929-016-0301-0

PMCID:: PMC5122030

Abstract Article PDF–1.1M

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 83904526.

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 82324837.

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 62625278.

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 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 1065535610.

Multi-modal proteomic characterization of lysosomal function and proteostasis in progranulin-deficient neurons

Saadia Hasan, Michael S. Fernandopulle, Stewart W. Humble, Ashley M. Frankenfield, Haorong Li, Ryan Prestil, Kory R. Johnson, Brent J. Ryan, Richard Wade-Martins, Michael E. Ward, Ling Hao

Mol Neurodegener. 2023; 18: 87. Published online 2023 Nov 16. doi: 10.1186/s13024-023-00673-w

Correction in:: Mol Neurodegener. 2023; 18: 96.

PMCID:: PMC10655356

Abstract Article PDF–12M

Select item 1037554211.

Progranulin deficiency results in sex-dependent alterations in microglia in response to demyelination

Tingting Zhang, Tuancheng Feng, Kenton Wu, Jennifer Guo, Alissa L. Nana, Guang Yang, William W. Seeley, Fenghua Hu

Acta Neuropathol. Author manuscript; available in PMC 2023 Jul 28.

Published in final edited form as: Acta Neuropathol. 2023 Jul; 146(1): 97–119. Published online 2023 Apr 30. doi: 10.1007/s00401-023-02578-w

PMCID:: PMC10375542

Abstract Article PDF–3.9M

Select item 1025665812.

Early recognition of CLN3 disease facilitated by visual electrophysiology and multimodal imaging

Dhimas H. Sakti, Elisa E. Cornish, Clare L. Fraser, Benjamin M. Nash, Trent M. Sandercoe, Michael M. Jones, Neil A. Rowe, Robyn V. Jamieson, Alexandra M. Johnson, John R. Grigg

Doc Ophthalmol. 2023; 146(3): 241–256. Published online 2023 Mar 25. doi: 10.1007/s10633-023-09930-1

PMCID:: PMC10256658

Abstract Article PDF–1.4M

Select item 1025219213.

Extracellular Vesicles Released by Genetically Modified Macrophages Activate Autophagy and Produce Potent Neuroprotection in Mouse Model of Lysosomal Storage Disorder, Batten Disease

Nazira El-Hage, Matthew J. Haney, Yuling Zhao, Myosotys Rodriguez, Zhanhong Wu, Mori Liu, Carson J. Swain, Hong Yuan, Elena V. Batrakova

Cells. 2023 Jun; 12(11): 1497. Published online 2023 May 29. doi: 10.3390/cells12111497

PMCID:: PMC10252192

Abstract Article PDF–4.1M

Select item 1019666514.

A Caenorhabditis elegans model of autosomal dominant adult-onset neuronal ceroid lipofuscinosis identifies ethosuximide as a potential therapeutic

Eleanor Barker, Alan Morgan, Jeff W Barclay

Hum Mol Genet. 2023 Jun 1; 32(11): 1772–1785. Published online 2022 Oct 25. doi: 10.1093/hmg/ddac263

PMCID:: PMC10196665

Abstract Article PDF–1.0M

Select item 997691415.

Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder

Flavia Privitera, Maria A. Trusso, Floriana Valentino, Gabriella Doddato, Chiara Fallerini, Giulia Brunelli, Romina D’Aurizio, Simone Furini, Arianna Goracci, Andrea Fagiolini, Francesca Mari, Alessandra Renieri, Francesca Ariani

Braz J Psychiatry. 2023 Jan-Feb; 45(1): 11–19. Published online 2023 Feb 13. doi: 10.47626/1516-4446-2022-2650

PMCID:: PMC9976914

Abstract Article PDF–134K

Select item 982306816.

Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients

Miral M. Refeat, Walaa El Naggar, Mostafa M. El Saied, Ayman Kilany

Neurogenetics. 2023; 24(1): 17–28. Published online 2022 Nov 26. doi: 10.1007/s10048-022-00703-7

PMCID:: PMC9823068

Abstract Article PDF–1.2M

Select item 972302417.

A Novel Porcine Model of CLN2 Batten Disease that Recapitulates Patient Phenotypes

Vicki J. Swier, Katherine A. White, Tyler B. Johnson, Jessica C. Sieren, Hans J. Johnson, Kevin Knoernschild, Xiaojun Wang, Frank A. Rohret, Christopher S. Rogers, David A. Pearce, Jon J. Brudvig, Jill M. Weimer

Neurotherapeutics. 2022 Oct; 19(6): 1905–1919. Published online 2022 Sep 13. doi: 10.1007/s13311-022-01296-7

PMCID:: PMC9723024

Abstract Article PDF–5.0M

Select item 958181018.

Visual perception and macular integrity in non-classical CLN2 disease

Yevgeniya Atiskova, Jan Wildner, Eva Wibbeler, Miriam Nickel, Martin Stephan Spitzer, Christoph Schwering, Angela Schulz, Simon Dulz

Graefes Arch Clin Exp Ophthalmol. 2022; 260(11): 3693–3700. Published online 2022 Jun 2. doi: 10.1007/s00417-022-05662-1

PMCID:: PMC9581810

Abstract Article PDF–695K

Select item 903755519.

The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy

Celine Deneubourg, Mauricio Ramm, Luke J. Smith, Olga Baron, Kritarth Singh, Susan C. Byrne, Michael R. Duchen, Mathias Gautel, Eeva-Liisa Eskelinen, Manolis Fanto, Heinz Jungbluth

Autophagy. 2022; 18(3): 496–517. Published online 2021 Aug 19. doi: 10.1080/15548627.2021.1943177

PMCID:: PMC9037555

Abstract Article PDF–2.0M

Select item 901246720.

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