PMC Articles for MedGen (Select 830971) - PMC

Michael C. Kruer, Reema Paudel, Wendy Wagoner, Lynn Sanford, Eleanna Kara, Allison Gregory, Tom Foltynie, Andrew Lees, Kailash Bhatia, John Hardy, Susan J. Hayflick, Henry Houlden

Neurosci Lett. Author manuscript; available in PMC 2013 Aug 8.

Published in final edited form as: Neurosci Lett. 2012 Aug 8; 523(1): 35–38. Published online 2012 Jun 25. doi: 10.1016/j.neulet.2012.06.036

PMCID:: PMC3619445

Abstract Article PDF–425K

Select item 36333734.

Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited α-synuclein accumulation and age-dependent sensorimotor deficits

Patrick J. Schultheis, Sheila M. Fleming, Amy K. Clippinger, Jada Lewis, Taiji Tsunemi, Benoit Giasson, Dennis W. Dickson, Joseph R. Mazzulli, Mark E. Bardgett, Kristi L. Haik, Osunde Ekhator, Anil Kumar Chava, John Howard, Matt Gannon, Elizabeth Hoffman, Yinhuai Chen, Vikram Prasad, Stephen C. Linn, Rafael J. Tamargo, Wendy Westbroek, Ellen Sidransky, Dimitri Krainc, Gary E. Shull

Hum Mol Genet. 2013 May 15; 22(10): 2067–2082. Published online 2013 Feb 7. doi: 10.1093/hmg/ddt057

PMCID:: PMC3633373

Abstract Article PDF–620K

Select item 36887825.

Osmotic Stress Changes the Expression and Subcellular Localization of the Batten Disease Protein CLN3

Amanda Getty, Attila D. Kovács, Tímea Lengyel-Nelson, Andrew Cardillo, Caitlin Hof, Chun-Hung Chan, David A. Pearce

PLoS One. 2013; 8(6): e66203. Published online 2013 Jun 20. doi: 10.1371/journal.pone.0066203

PMCID:: PMC3688782

Abstract Article PDF–1.5M

Select item 36989866.

DOWN-REGULATION OF LRRK2 IN CONTROL AND DAT TRANSFECTED HEK CELLS INCREASES MANGANESE-INDUCED OXIDATIVE STRESS AND CELL TOXICITY

Jerome A. Roth, Michelle Eichhorn

Neurotoxicology. Author manuscript; available in PMC 2014 Jul 1.

Published in final edited form as: Neurotoxicology. 2013 Jul; 37: 100–107. Published online 2013 Apr 27. doi: 10.1016/j.neuro.2013.04.008

PMCID:: PMC3698986

Abstract Article PDF–2.5M

Select item 37141007.

Methodology of clinical research in rare diseases: development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates

Elisabeth A. de Blieck, Erika F. Augustine, Frederick J. Marshall, Heather Adams, Jennifer Cialone, Leon Dure, Jennifer M. Kwon, Nicole Newhouse, Katherine Rose, Paul G. Rothberg, Amy Vierhile, Jonathan W. Mink, the Batten Study Group

Contemp Clin Trials. Author manuscript; available in PMC 2014 Jul 1.

Published in final edited form as: Contemp Clin Trials. 2013 Jul; 35(2): 48–54. Published online 2013 Apr 26. doi: 10.1016/j.cct.2013.04.004

PMCID:: PMC3714100

Abstract Article PDF–54K

Select item 37741018.

Osmoregulation of ceroid neuronal lipofuscinosis type 3 in the renal medulla

Colleen S. Stein, Paul H. Yancey, Inês Martins, Rita D. Sigmund, John B. Stokes, Beverly L. Davidson

Am J Physiol Cell Physiol. 2010 Jun; 298(6): C1388–C1400. Published online 2010 Mar 10. doi: 10.1152/ajpcell.00272.2009

PMCID:: PMC3774101

Abstract Article

Select item 38554019.

Neuronal ceroid lipofuscinosis type CLN2: A new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America

Romina Kohan, María Noelia Carabelos, Winnie Xin, Katherine Sims, Norberto Guelbert, Inés Adriana Cismondi, Patricia Pons, Graciela Irene Alonso, Mónica Troncoso, Scarlet Witting, David A. Pearce, Raquel Dodelson de Kremer, Ana María Oller-Ramírez, Inés Noher de Halac

Gene. Author manuscript; available in PMC 2014 Mar 1.

Published in final edited form as: Gene. 2013 Mar 1; 516(1): 10.1016/j.gene.2012.12.058. Published online 2012 Dec 22. doi: 10.1016/j.gene.2012.12.058

PMCID:: PMC3855401

Abstract Article PDF–584K

Select item 392526910.

An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3

Céline Pebrel-Richard, Anne Debost-Legrand, Eléonore Eymard-Pierre, Victoria Greze, Stéphan Kemeny, Mathilde Gay-Bellile, Laetitia Gouas, Andreï Tchirkov, Philippe Vago, Carole Goumy, Christine Francannet

Eur J Hum Genet. 2014 Mar; 22(3): 369–373. Published online 2013 Jul 17. doi: 10.1038/ejhg.2013.141

PMCID:: PMC3925269

Abstract Article PDF–967K

Select item 395981411.

Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway

Xenia Lojewski, John F. Staropoli, Sunita Biswas-Legrand, Alexandra M. Simas, Larissa Haliw, Martin K. Selig, Scott H. Coppel, Kendrick A. Goss, Anton Petcherski, Uma Chandrachud, Steven D. Sheridan, Diane Lucente, Katherine B. Sims, James F. Gusella, Dolan Sondhi, Ronald G. Crystal, Peter Reinhardt, Jared Sterneckert, Hans Schöler, Stephen J. Haggarty, Alexander Storch, Andreas Hermann, Susan L. Cotman

Hum Mol Genet. 2014 Apr 15; 23(8): 2005–2022. Published online 2013 Nov 23. doi: 10.1093/hmg/ddt596

PMCID:: PMC3959814

Abstract Article PDF–2.9M

Select item 398816412.

Evidence for Aberrant Astrocyte Hemichannel Activity in Juvenile Neuronal Ceroid Lipofuscinosis (JNCL)

Maria Burkovetskaya, Nikolay Karpuk, Juan Xiong, Megan Bosch, Michael D. Boska, Hideyuki Takeuchi, Akio Suzumura, Tammy Kielian

PLoS One. 2014; 9(4): e95023. Published online 2014 Apr 15. doi: 10.1371/journal.pone.0095023

PMCID:: PMC3988164

Abstract Article PDF–4.9M

Select item 400858313.

CLN3 Deficient Cells Display Defects in the ARF1-Cdc42 Pathway and Actin-Dependent Events

Mark L. Schultz, Luis Tecedor, Colleen S. Stein, Mark A. Stamnes, Beverly L. Davidson

PLoS One. 2014; 9(5): e96647. Published online 2014 May 2. doi: 10.1371/journal.pone.0096647

PMCID:: PMC4008583

Abstract Article PDF–3.3M

Select item 401418614.

Zn²⁺ dyshomeostasis caused by loss of ATP13A2/PARK9 leads to lysosomal dysfunction and alpha-synuclein accumulation

Taiji Tsunemi, Dimitri Krainc

Hum Mol Genet. 2014 Jun 1; 23(11): 2791–2801. Published online 2013 Dec 13. doi: 10.1093/hmg/ddt572

PMCID:: PMC4014186

Abstract Article PDF–757K

Select item 401418715.

Parkinson's disease-associated human ATP13A2 (PARK9) deficiency causes zinc dyshomeostasis and mitochondrial dysfunction

Jin-Sung Park, Brianada Koentjoro, David Veivers, Alan Mackay-Sim, Carolyn M. Sue

Hum Mol Genet. 2014 Jun 1; 23(11): 2802–2815. Published online 2014 Jan 7. doi: 10.1093/hmg/ddt623

PMCID:: PMC4014187

Abstract Article PDF–1.8M

Select item 344288716.

Lysosomal dysfunction in Parkinson disease: ATP13A2 gets into the groove

Benjamin Dehay, Marta Martinez-Vicente, Alfredo Ramirez, Celine Perier, Christine Klein, Miquel Vila, Erwan Bezard

Autophagy. 2012 Sep 1; 8(9): 1389–1391. doi: 10.4161/auto.21011

PMCID:: PMC3442887

Abstract Article PDF–915K

Select item 422813117.

ATP13A2/PARK9 Regulates Secretion of Exosomes and α-Synuclein

Taiji Tsunemi, Kana Hamada, Dimitri Krainc

J Neurosci. 2014 Nov 12; 34(46): 15281–15287. doi: 10.1523/JNEUROSCI.1629-14.2014

PMCID:: PMC4228131

Abstract Article PDF–1.2M

Select item 450550518.

Unbiased Cell-based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction between Ca²⁺ Homeostasis, Autophagy, and CLN3 Protein Function

Uma Chandrachud, Mathew W. Walker, Alexandra M. Simas, Sasja Heetveld, Anton Petcherski, Madeleine Klein, Hyejin Oh, Pavlina Wolf, Wen-Ning Zhao, Stephanie Norton, Stephen J. Haggarty, Emyr Lloyd-Evans, Susan L. Cotman

J Biol Chem. 2015 Jun 5; 290(23): 14361–14380. Published online 2015 Apr 15. doi: 10.1074/jbc.M114.621706

PMCID:: PMC4505505

Abstract Article PDF–5.7M

Select item 451761819.

Lithium rescues the impaired autophagy process in CbCln3^{Δex7/8/Δex7/8} cerebellar cells and reduces neuronal vulnerability to cell death via IMPase inhibition

Jae-Woong Chang, Hyunwoo Choi, Susan L. Cotman, Yong-Keun Jung

J Neurochem. Author manuscript; available in PMC 2015 Jul 28.

Published in final edited form as: J Neurochem. 2011 Feb; 116(4): 659–668. Published online 2011 Jan 19. doi: 10.1111/j.1471-4159.2010.07158.x

PMCID:: PMC4517618

Abstract Article PDF–360K

Select item 463163120.

Abnormally increased surface expression of AMPA receptors in the cerebellum, cortex and striatum of Cln3^−/− mice

Attila D. Kovács, Caitlin Hof, David A. Pearce

Neurosci Lett. Author manuscript; available in PMC 2016 Oct 21.

Published in final edited form as: Neurosci Lett. 2015 Oct 21; 607: 29–34. Published online 2015 Sep 12. doi: 10.1016/j.neulet.2015.09.012

PMCID:: PMC4631631

Abstract Article PDF–332K

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