| AZU1 (HBP/CAP37) and PRKCG (PKC-gamma) may be candidate genes affecting the severity of acute mountain sickness. | AZU1 (HBP/CAP37) and PRKCG (PKC-gamma) may be candidate genes affecting the severity of acute mountain sickness.
Xu Z, Li Q, Shen X., Free PMC Article | 02/23/2023 |
| lncRNA IL-17RA-1 Attenuates LPS-Induced Sepsis via miR-7847-3p/PRKCG-Mediated MAPK Signaling Pathway. | lncRNA IL-17RA-1 Attenuates LPS-Induced Sepsis via miR-7847-3p/PRKCG-Mediated MAPK Signaling Pathway.
Gan Y, Long J, Zeng Y, Zhang Y, Tao Y., Free PMC Article | 10/29/2022 |
| Comparison of two families with and without ataxia harboring novel variants in PRKCG. | Comparison of two families with and without ataxia harboring novel variants in PRKCG.
Tada Y, Kume K, Noguchi S, Sekiya T, Nishinaka K, Ishiguchi H, Koh J, Emori S, Nakayama Y, Kurashige T, Izumi Y, Ito H, Sakai N, Kawakami H. | 10/1/2022 |
| The Emerging Key Role of the mGluR1-PKCgamma Signaling Pathway in the Pathogenesis of Spinocerebellar Ataxias: A Neurodevelopmental Viewpoint. | The Emerging Key Role of the mGluR1-PKCγ Signaling Pathway in the Pathogenesis of Spinocerebellar Ataxias: A Neurodevelopmental Viewpoint.
Wu QW, Kapfhammer JP., Free PMC Article | 09/3/2022 |
| Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations. | Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.
De Michele G, Galatolo D, Galosi S, Mignarri A, Silvestri G, Casali C, Leuzzi V, Ricca I, Barghigiani M, Tessa A, Cioffi E, Caputi C, Riso V, Dotti MT, Saccà F, De Michele G, Cocozza S, Filla A, Santorelli FM., Free PMC Article | 02/26/2022 |
| Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult-onset disorder. | Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult-onset disorder.
Schmitz-Hübsch T, Lux S, Bauer P, Brandt AU, Schlapakow E, Greschus S, Scheel M, Gärtner H, Kirlangic ME, Gras V, Timmann D, Synofzik M, Giorgetti A, Carloni P, Shah JN, Schöls L, Kopp U, Bußenius L, Oberwahrenbrock T, Zimmermann H, Pfueller C, Kadas EM, Rönnefarth M, Grosch AS, Endres M, Amunts K, Paul F, Doss S, Minnerop M., Free PMC Article | 01/15/2022 |
| Dominant negative mechanism due to truncated peptides produced by p.R76X underlies spinocerebellar ataxia type 14. PKCgamma(R76X)-GFP inhibited PKC phosphorylation activity and caused apoptosis in neurons. | Spinocerebellar ataxia type 14 caused by a nonsense mutation in the PRKCG gene.
Shirafuji T, Shimazaki H, Miyagi T, Ueyama T, Adachi N, Tanaka S, Hide I, Saito N, Sakai N. | 04/25/2020 |
| This study presented one of the largest SCA14 cohorts of patients reported contributing with novel variants and supporting the distinct phenotype spectrum with specific cellular defects resulting from different types of PRKCG mutations. | Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.
Chelban V, Wiethoff S, Fabian-Jessing BK, Haridy NA, Khan A, Efthymiou S, Becker EBE, O'Connor E, Hersheson J, Newland K, Hojland AT, Gregersen PA, Lindquist SG, Petersen MB, Nielsen JE, Nielsen M, Wood NW, Giunti P, Houlden H., Free PMC Article | 08/31/2019 |
| This study demonstrated that a combination of both, loss-of-function and gain-of-function mechanisms are likely to underlie the pathogenesis of SCA14, caused by mutations in the C1 domain of PKCgamma | Neurodegeneration in SCA14 is associated with increased PKCγ kinase activity, mislocalization and aggregation.
Wong MMK, Hoekstra SD, Vowles J, Watson LM, Fuller G, Németh AH, Cowley SA, Ansorge O, Talbot K, Becker EBE., Free PMC Article | 06/8/2019 |
| This review showed that the PKC Gamma signaling related genes and calcium signaling related genes then discuss their role for both Purkinje cell dendritic development and cerebellar ataxia. | Calcium Signaling, PKC Gamma, IP3R1 and CAR8 Link Spinocerebellar Ataxias and Purkinje Cell Dendritic Development.
Shimobayashi E, Kapfhammer JP., Free PMC Article | 10/6/2018 |
| SUMOylation of EphB1 repressed activation of its downstream signaling molecule PKC-gamma, and consequently inhibited neuroblastoma tumorigenesis. | Sumoylation of EphB1 Suppresses Neuroblastoma Tumorigenesis via Inhibiting PKCγ Activation.
Chen Q, Deng R, Zhao X, Yuan H, Zhang H, Dou J, Chen R, Jin H, Wang Y, Huang J, Yu J. | 06/23/2018 |
| two out of three known mutations in the catalytic domain of PKCgamma did indeed show increased biological activity. | Increased biological activity of protein Kinase C gamma is not required in Spinocerebellar ataxia 14.
Shimobayashi E, Kapfhammer JP., Free PMC Article | 05/12/2018 |
| Lysophosphatidylcholines prime polymorphonuclear neutrophil through Hck-dependent activation of PKCdelta, which stimulates PKCgamma, resulting in translocation of phosphorylated p47(phox). | LysoPCs induce Hck- and PKCδ-mediated activation of PKCγ causing p47phox phosphorylation and membrane translocation in neutrophils.
Kelher MR, McLaughlin NJ, Banerjee A, Elzi DJ, Gamboni F, Khan SY, Meng X, Mitra S, Silliman CC., Free PMC Article | 09/2/2017 |
| The gene-environment combination of PRKCG rs3745406 C allele, BDNF rs6265 G allele and high level of negative life events was significantly associated with major depressive disorder. | The interaction of combined effects of the BDNF and PRKCG genes and negative life events in major depressive disorder.
Yang C, Sun N, Liu Z, Li X, Xu Y, Zhang K. | 10/22/2016 |
| The results showed that carrier of rs454006*C allele and rs3745406*C might elevate the risk of osteosarcoma | Genetic variations in the PRKCG gene and osteosarcoma risk in a Chinese population: a case-control study.
Lu H, Zhu L, Lian L, Chen M, Shi D, Wang K. | 10/31/2015 |
| Data suggest that PRKCG (protein kinase C gamma) phosphorylates TA isoforms of p63 (tumor protein p63) at Thr157 to stabilize them and promote cell apoptosis in tumor cells. | PKCδ stabilizes TAp63 to promote cell apoptosis.
Li D, Li C, Wu M, Chen Q, Wang Q, Ren J, Zhang Y. | 10/17/2015 |
| PKCgamma,mutated in the neurodegenerative disease spinocerebellar ataxia type 14 is a novel amyloidogenic protein. | Identification and characterization of PKCγ, a kinase associated with SCA14, as an amyloidogenic protein.
Takahashi H, Adachi N, Shirafuji T, Danno S, Ueyama T, Vendruscolo M, Shuvaev AN, Sugimoto T, Seki T, Hamada D, Irie K, Hirai H, Sakai N, Saito N. | 09/26/2015 |
| The rs454006 polymorphism of the PRKCG gene correlated to osteosarcoma susceptibility and might increase the risk of osteosarcoma. | Single-nucleotide polymorphisms of the PRKCG gene and osteosarcoma susceptibility.
Zhang Y, Hu X, Wang HK, Shen WW, Liao TQ, Chen P, Chu TW. | 05/9/2015 |
| findings provide evidence for both an increased PKCgamma activity in Purkinje cells in vivo and for pathological changes typical for cerebellar disease thus linking increased and dysregulated activity of PKCgamma to development of cerebellar disease | Increased protein kinase C gamma activity induces Purkinje cell pathology in a mouse model of spinocerebellar ataxia 14.
Ji J, Hassler ML, Shimobayashi E, Paka N, Streit R, Kapfhammer JP. | 04/25/2015 |
| we show that the mutation V138E of the protein kinase C gamma (PKCgamma) C1B domain, which is implicated in spinocerebellar ataxia type 14, exhibits a partially unfolded C-terminus | SCA14 mutation V138E leads to partly unfolded PKCγ associated with an exposed C-terminus, altered kinetics, phosphorylation and enhanced insolubilization.
Jezierska J, Goedhart J, Kampinga HH, Reits EA, Verbeek DS. | 05/3/2014 |
| PKCgamma plays a critical role in cancer cells, and simultaneous inhibition of PKCgamma and Hsp90alpha synergistically prevents cell migration and promotes apoptosis in cancer cells. | The regulatory mechanism of a client kinase controlling its own release from Hsp90 chaperone machinery through phosphorylation.
Lu XA, Wang X, Zhuo W, Jia L, Jiang Y, Fu Y, Luo Y., Free PMC Article | 03/8/2014 |
| A novel missense mutation, F643L, which maps to a highly conserved amino acid of the catalytic domain of protein kinase C gamma, extends the phenotype associated with the spinocerebellar ataxia type 14 (SCA14) locus. | Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.
Stevanin G, Hahn V, Lohmann E, Bouslam N, Gouttard M, Soumphonphakdy C, Welter ML, Ollagnon-Roman E, Lemainque A, Ruberg M, Brice A, Durr A. | 01/23/2014 |
| Spinocerebellar ataxia type 14 mutant PKC-gamma upregulates Hsp70. Hsp70 has a role in degrading mutant PKC-gamma. | Mutant γPKC that causes spinocerebellar ataxia type 14 upregulates Hsp70, which protects cells from the mutant's cytotoxicity.
Ogawa K, Seki T, Onji T, Adachi N, Tanaka S, Hide I, Saito N, Sakai N. | 12/7/2013 |
| Exome sequencing of large, 5-generational British kindred finds a novel p.Arg26Gly mutation in the PRKCG gene causing familial spinocerebellar ataxia 14. | Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases.
Sailer A, Scholz SW, Gibbs JR, Tucci A, Johnson JO, Wood NW, Plagnol V, Hummerich H, Ding J, Hernandez D, Hardy J, Federoff HJ, Traynor BJ, Singleton AB, Houlden H., Free PMC Article | 10/6/2012 |
| SCA14, a novel mutation in the PRKCG gene, was found in two families in Norway with autosomal dominant cerebellar ataxia. | SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene.
Koht J, Stevanin G, Durr A, Mundwiller E, Brice A, Tallaksen CM. | 05/5/2012 |