PMC Articles for MedGen (Select 343106) - PMC

Caila A. Pilo, Timothy R. Baffi, Alexandr P. Kornev, Maya T. Kunkel, Mario Malfavon, Dong-Hui Chen, Leigh-Ana Rossitto, Daniel X. Chen, Liang-Chin Huang, Cheryl Longman, Natarajan Kannan, Wendy H. Raskind, David J. Gonzalez, Susan S. Taylor, George Gorrie, Alexandra C. Newton

Sci Signal. Author manuscript; available in PMC 2023 Jan 3.

Published in final edited form as: Sci Signal. 2022 Sep 27; 15(753): eabk1147. Published online 2022 Sep 27. doi: 10.1126/scisignal.abk1147

PMCID:: PMC9810342

Abstract Article PDF–2.8M

Select item 94077204.

Transcriptome Profile of a New Mouse Model of Spinocerebellar Ataxia Type 14 Implies Changes in Cerebellar Development

Szilvia E. Mezey, Josef P. Kapfhammer, Etsuko Shimobayashi

Genes (Basel) 2022 Aug; 13(8): 1417. Published online 2022 Aug 9. doi: 10.3390/genes13081417

PMCID:: PMC9407720

Abstract Article PDF–18M

Select item 88571645.

Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations

Giovanna De Michele, Daniele Galatolo, Serena Galosi, Andrea Mignarri, Gabriella Silvestri, Carlo Casali, Vincenzo Leuzzi, Ivana Ricca, Melissa Barghigiani, Alessandra Tessa, Ettore Cioffi, Caterina Caputi, Vittorio Riso, Maria Teresa Dotti, Francesco Saccà, Giuseppe De Michele, Sirio Cocozza, Alessandro Filla, Filippo M. Santorelli

J Neurol. 2022; 269(3): 1476–1484. Published online 2021 Jul 22. doi: 10.1007/s00415-021-10712-5

PMCID:: PMC8857164

Abstract Article PDF–805K

Select item 80459426.

Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult‐onset disorder

Tanja Schmitz‐Hübsch, Silke Lux, Peter Bauer, Alexander U. Brandt, Elena Schlapakow, Susanne Greschus, Michael Scheel, Hanna Gärtner, Mehmet E. Kirlangic, Vincent Gras, Dagmar Timmann, Matthis Synofzik, Alejandro Giorgetti, Paolo Carloni, Jon N. Shah, Ludger Schöls, Ute Kopp, Lisa Bußenius, Timm Oberwahrenbrock, Hanna Zimmermann, Caspar Pfueller, Ella‐Maria Kadas, Maria Rönnefarth, Anne‐Sophie Grosch, Matthias Endres, Katrin Amunts, Friedemann Paul, Sarah Doss, Martina Minnerop

Ann Clin Transl Neurol. 2021 Apr; 8(4): 774–789. Published online 2021 Mar 19. doi: 10.1002/acn3.51315

PMCID:: PMC8045942

Abstract Article PDF–846K

Select item 80045227.

Neurochemical Differences in Spinocerebellar Ataxia Type 14 and 1

Anne Sophie Grosch, Jan Leo Rinnenthal, Maria Rönnefarth, Silke Lux, Michael Scheel, Matthias Endres, Alexander U. Brandt, Friedemann Paul, Tanja Schmitz-Hübsch, Martina Minnerop, Sarah Doss

Cerebellum. 2021; 20(2): 169–178. Published online 2020 Oct 15. doi: 10.1007/s12311-020-01201-y

PMCID:: PMC8004522

Abstract Article PDF–1.5M

Select item 73518448.

Investigation of Visual System Involvement in Spinocerebellar Ataxia Type 14

Thomas Ihl, Ella M. Kadas, Timm Oberwahrenbrock, Matthias Endres, Thomas Klockgether, Jan Schroeter, Alexander U. Brandt, Friedemann Paul, Martina Minnerop, Sarah Doss, Tanja Schmitz-Hübsch, Hanna G. Zimmermann

Cerebellum. 2020; 19(4): 469–482. Published online 2020 Apr 27. doi: 10.1007/s12311-020-01130-w

PMCID:: PMC7351844

Abstract Article PDF–1.6M

Select item 70049709.

Simplified Model of PKCγ Signaling Dysregulation and Cytosol-to-Membrane Translocation Kinetics During Neurodegenerative Spinocerebellar Ataxia Type 14 (SCA14)

Naveed Aslam, Farah Alvi

Front Neurosci. 2019; 13: 1397. Published online 2020 Jan 31. doi: 10.3389/fnins.2019.01397

PMCID:: PMC7004970

Abstract Article PDF–6.5M

Select item 662365410.

Mutant PKCγ in Spinocerebellar Ataxia Type 14 Disrupts Synapse Elimination and Long-Term Depression in Purkinje Cells In Vivo

Anton N. Shuvaev, Hajime Horiuchi, Takahiro Seki, Hanna Goenawan, Tomohiko Irie, Akira Iizuka, Norio Sakai, Hirokazu Hirai

J Neurosci. 2011 Oct 5; 31(40): 14324–14334. doi: 10.1523/JNEUROSCI.5530-10.2011

PMCID:: PMC6623654

Abstract Article PDF–1.9M

Select item 617513611.

Genotype‐phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14

Viorica Chelban, Sarah Wiethoff, Bjørn K. Fabian‐Jessing, Nourelhoda A. Haridy, Alaa Khan, Stephanie Efthymiou, Esther B. E. Becker, Emer O'Connor, Joshua Hersheson, Katrina Newland, Allan Thomas Hojland, Pernille A. Gregersen, Suzanne G. Lindquist, Michael B. Petersen, Jørgen E. Nielsen, Michael Nielsen, Nicholas W. Wood, Paola Giunti, Henry Houlden

Mov Disord. 2018 Jul; 33(7): 1119–1129. Published online 2018 Mar 30. doi: 10.1002/mds.27334

PMCID:: PMC6175136

Abstract Article PDF–3.1M

Select item 615327912.

Pharmacological induction of heat shock proteins ameliorates toxicity of mutant PKCγ in spinocerebellar ataxia type 14

Aoi Nakazono, Naoko Adachi, Hideyuki Takahashi, Takahiro Seki, Daizo Hamada, Takehiko Ueyama, Norio Sakai, Naoaki Saito

J Biol Chem. 2018 Sep 21; 293(38): 14758–14774. Published online 2018 Aug 9. doi: 10.1074/jbc.RA118.002913

PMCID:: PMC6153279

Abstract Article PDF–4.9M

Select item 615193113.

Neurodegeneration in SCA14 is associated with increased PKCγ kinase activity, mislocalization and aggregation

Maggie M. K. Wong, Stephanie D. Hoekstra, Jane Vowles, Lauren M. Watson, Geraint Fuller, Andrea H. Németh, Sally A. Cowley, Olaf Ansorge, Kevin Talbot, Esther B. E. Becker

Acta Neuropathol Commun. 2018; 6: 99. Published online 2018 Sep 24. doi: 10.1186/s40478-018-0600-7

PMCID:: PMC6151931

Abstract Article PDF–7.6M

Select item 552533814.

Increased biological activity of protein Kinase C gamma is not required in Spinocerebellar ataxia 14

Etsuko Shimobayashi, Josef P. Kapfhammer

Mol Brain. 2017; 10: 34. Published online 2017 Jul 24. doi: 10.1186/s13041-017-0313-z

PMCID:: PMC5525338

Abstract Article PDF–2.4M

Select item 421945015.

Cognition is only minimally impaired in Spinocerebellar ataxia type 14 (SCA14): a neuropsychological study of ten Norwegian subjects compared to intrafamilial controls and population norm

Iselin Marie Wedding, Jeanette Koht, Espen Dietrichs, Nils Inge Landrø, Chantal ME Tallaksen

BMC Neurol. 2013; 13: 186. Published online 2013 Nov 29. doi: 10.1186/1471-2377-13-186

PMCID:: PMC4219450

Abstract Article PDF–1.1M

Select item 397835716.

Deregulation of the actin cytoskeleton and macropinocytosis in response to phorbol ester by the mutant protein kinase C gamma that causes spinocerebellar ataxia type 14

Kazuhiro Yamamoto, Takahiro Seki, Hikaru Yamamoto, Naoko Adachi, Shigeru Tanaka, Izumi Hide, Naoaki Saito, Norio Sakai

Front Physiol. 2014; 5: 126. Published online 2014 Apr 1. doi: 10.3389/fphys.2014.00126

PMCID:: PMC3978357

Abstract Article PDF–2.3M

Select item 339053817.

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases

Anna Sailer, Sonja W. Scholz, J. Raphael Gibbs, Arianna Tucci, Janel O. Johnson, Nicholas W. Wood, Vincent Plagnol, Holger Hummerich, Jinhui Ding, Dena Hernandez, John Hardy, Howard J. Federoff, Bryan J. Traynor, Andrew B. Singleton, Henry Houlden

Neurology. 2012 Jul 10; 79(2): 127–131. doi: 10.1212/WNL.0b013e31825f048e

PMCID:: PMC3390538

Abstract Article PDF–457K

Select item 296333718.

Effect of Trehalose on the Properties of Mutant γPKC, Which Causes Spinocerebellar Ataxia Type 14, in Neuronal Cell Lines and Cultured Purkinje Cells

Takahiro Seki, Nana Abe-Seki, Takahiro Kikawada, Hideyuki Takahashi, Kazuhiro Yamamoto, Naoko Adachi, Shigeru Tanaka, Izumi Hide, Naoaki Saito, Norio Sakai

J Biol Chem. 2010 Oct 22; 285(43): 33252–33264. Published online 2010 Aug 12. doi: 10.1074/jbc.M110.146704

PMCID:: PMC2963337

Abstract Article PDF–4.4M

Select item 173943119.

Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene

M Fahey, M Knight, J Shaw, R Gardner, D du Sart, P Lockhart, M Delatycki, P Gates, E Storey

J Neurol Neurosurg Psychiatry. 2005 Dec; 76(12): 1720–1722. doi: 10.1136/jnnp.2004.044115

PMCID:: PMC1739431

Summary PDF–216K

Select item 1006491220.

Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches

Anhar Hassan

Tremor Other Hyperkinet Mov (N Y) 2023; 13: 9. Published online 2023 Mar 28. doi: 10.5334/tohm.747

PMCID:: PMC10064912

Abstract Article PDF–842K

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