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Select item 88571641.

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 80459422.

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 61751363.

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 61519314.

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 58833775.

Calcium Signaling, PKC Gamma, IP₃R1 and CAR8 Link Spinocerebellar Ataxias and Purkinje Cell Dendritic Development

Etsuko Shimobayashi, Josef P. Kapfhammer

Curr Neuropharmacol. 2018 Feb; 16(2): 151–159. Published online 2018 Feb. doi: 10.2174/1570159X15666170529104000

PMCID:: PMC5883377

Abstract Article PDF–499K

Select item 55253386.

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 33905387.

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 29999058.

Protein kinase Cγ in colon cancer cells: Expression, Thr⁵¹⁴ phophorylation and sensitivity to butyrate-mediated upregulation as related to the degree of differentiation

Dorota Garczarczyk, Krisztina Szeker, Peter Galfi, Adam Csordas, Johann Hofmann

Chem Biol Interact. Author manuscript; available in PMC 2010 Dec 9.

Published in final edited form as: Chem Biol Interact. 2010 Apr 15; 185(1): 25–32. Published online 2010 Feb 25. doi: 10.1016/j.cbi.2010.02.035

PMCID:: PMC2999905

Abstract Article PDF–1.8M

Select item 21328309.

Distinct Effects of Fatty Acids on Translocation of γ- and ε-Subspecies of Protein Kinase C

Yasuhito Shirai, Kaori Kashiwagi, Keiko Yagi, Norio Sakai, Naoaki Saito

J Cell Biol. 1998 Oct 19; 143(2): 511–521. doi: 10.1083/jcb.143.2.511

PMCID:: PMC2132830

Abstract Article PDF–2.7M

Select item 171604610.

Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele.

T L McGee, M Devoto, J Ott, E L Berson, T P Dryja

Am J Hum Genet. 1997 Nov; 61(5): 1059–1066. doi: 10.1086/301614

PMCID:: PMC1716046

Summary Page Browse PDF–1.2M

Select item 137800011.

No mutations in the coding region of the PRKCG gene in three families with retinitis pigmentosa linked to the RP11 locus on chromosome 19q.

T P Dryja, J McEvoy, T L McGee, E L Berson

Am J Hum Genet. 1999 Sep; 65(3): 926–928. doi: 10.1086/302554

PMCID:: PMC1378000

Summary PDF–922K

Select item 2041712.

Alzheimer’s-specific effects of soluble β-amyloid on protein kinase C-α and -γ degradation in human fibroblasts

Antonella Favit, Maurizio Grimaldi, Thomas J. Nelson, Daniel L. Alkon

Proc Natl Acad Sci U S A. 1998 May 12; 95(10): 5562–5567. doi: 10.1073/pnas.95.10.5562

PMCID:: PMC20417

Abstract Article PDF–316K

Select item 994039913.

AZU1 (HBP/CAP37) and PRKCG (PKC-gamma) may be candidate genes affecting the severity of acute mountain sickness

Zhichao Xu, Qiong Li, Xiaobing Shen

BMC Med Genomics. 2023; 16: 28. Published online 2023 Feb 20. doi: 10.1186/s12920-023-01457-3

PMCID:: PMC9940399

Abstract Article PDF–2.2M

Select item 940911914.

The Emerging Key Role of the mGluR1-PKCγ Signaling Pathway in the Pathogenesis of Spinocerebellar Ataxias: A Neurodevelopmental Viewpoint

Qin-Wei Wu, Josef P. Kapfhammer

Int J Mol Sci. 2022 Aug; 23(16): 9169. Published online 2022 Aug 15. doi: 10.3390/ijms23169169

PMCID:: PMC9409119

Abstract Article PDF–1.0M

Select item 392792915.

The regulatory mechanism of a client kinase controlling its own release from Hsp90 chaperone machinery through phosphorylation

Xin-an Lu, Xiaofeng Wang, Wei Zhuo, Lin Jia, Yushan Jiang, Yan Fu, Yongzhang Luo

Biochem J. 2014 Jan 1; 457(Pt 1): 171–183. Prepublished online 2013 Oct 14. Published online 2013 Dec 10. doi: 10.1042/BJ20130963

PMCID:: PMC3927929

Abstract Article PDF–1.8M

Select item 138232416.

Protein Kinase Cγ Regulates Myosin IIB Phosphorylation, Cellular Localization, and Filament Assembly

Michael Rosenberg, Shoshana Ravid

Mol Biol Cell. 2006 Mar; 17(3): 1364–1374. doi: 10.1091/mbc.E05-07-0597

PMCID:: PMC1382324

Abstract Article PDF–379K

Select item 137707717.

Segregation of a PRKCG mutation in two RP11 families.

M Al-Maghtheh, E N Vithana, C F Inglehearn, T Moore, A C Bird, S S Bhattacharya

Am J Hum Genet. 1998 May; 62(5): 1248–1252. doi: 10.1086/301819

PMCID:: PMC1377077

Summary PDF–682K

Select item 118034818.

Missense Mutations in the Regulatory Domain of PKCγ: A New Mechanism for Dominant Nonepisodic Cerebellar Ataxia

Dong-Hui Chen, Zoran Brkanac, Christophe L. M. J. Verlinde, Xiao-Jian Tan, Laura Bylenok, David Nochlin, Mark Matsushita, Hillary Lipe, John Wolff, Magali Fernandez, P. J. Cimino, Thomas D. Bird, Wendy H. Raskind

Am J Hum Genet. 2003 Apr; 72(4): 839–849. Published online 2003 Mar 17. doi: 10.1086/373883

PMCID:: PMC1180348

Abstract Article PDF–896K

Select item 958474119.

lncRNA IL-17RA-1 Attenuates LPS-Induced Sepsis via miR-7847-3p/PRKCG-Mediated MAPK Signaling Pathway

Yuanxiu Gan, Jie Long, Yan Zeng, Yan Zhang, Yang Tao

Mediators Inflamm. 2022; 2022: 9923204. Published online 2022 Oct 13. doi: 10.1155/2022/9923204

PMCID:: PMC9584741

Abstract Article PDF–2.6M

Select item 431536420.

Tumour suppressor TRIM33 targets nuclear ß-catenin degradation

Jianfei Xue, Yaohui Chen, Yamei Wu, Zhongyong Wang, Aidong Zhou, Sicong Zhang, Kangyu Lin, Kenneth Aldape, Sadhan Majumder, Zhimin Lu, Suyun Huang

Nat Commun. Author manuscript; available in PMC 2015 Aug 2.

Published in final edited form as: Nat Commun. 2015; 6: 6156. Published online 2015 Feb 2. doi: 10.1038/ncomms7156

PMCID:: PMC4315364

Abstract Article PDF–2.5M

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