128 related articles for article (PubMed ID: 35760954)
1. 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
J Hum Genet; 2022 Oct; 67(10):595-599. PubMed ID: 35760954
[TBL] [Abstract][Full Text] [Related]
2. 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
Mol Cell Neurosci; 2019 Jul; 98():46-53. PubMed ID: 31158466
[TBL] [Abstract][Full Text] [Related]
3. Increased biological activity of protein Kinase C gamma is not required in Spinocerebellar ataxia 14.
Shimobayashi E; Kapfhammer JP
Mol Brain; 2017 Jul; 10(1):34. PubMed ID: 28738819
[TBL] [Abstract][Full Text] [Related]
4. Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma.
Yabe I; Sasaki H; Chen DH; Raskind WH; Bird TD; Yamashita I; Tsuji S; Kikuchi S; Tashiro K
Arch Neurol; 2003 Dec; 60(12):1749-51. PubMed ID: 14676051
[TBL] [Abstract][Full Text] [Related]
5. A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14.
Alonso I; Costa C; Gomes A; Ferro A; Seixas AI; Silva S; Cruz VT; Coutinho P; Sequeiros J; Silveira I
J Hum Genet; 2005; 50(10):523-529. PubMed ID: 16189624
[TBL] [Abstract][Full Text] [Related]
6. Transcriptome Profile of a New Mouse Model of Spinocerebellar Ataxia Type 14 Implies Changes in Cerebellar Development.
Mezey SE; Kapfhammer JP; Shimobayashi E
Genes (Basel); 2022 Aug; 13(8):. PubMed ID: 36011327
[TBL] [Abstract][Full Text] [Related]
7. 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
Acta Neuropathol Commun; 2018 Sep; 6(1):99. PubMed ID: 30249303
[TBL] [Abstract][Full Text] [Related]
8. 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
J Neurochem; 2014 Mar; 128(5):741-51. PubMed ID: 24134140
[TBL] [Abstract][Full Text] [Related]
9. 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
J Neurol; 2022 Mar; 269(3):1476-1484. PubMed ID: 34292398
[TBL] [Abstract][Full Text] [Related]
10. Calcium Signaling, PKC Gamma, IP3R1 and CAR8 Link Spinocerebellar Ataxias and Purkinje Cell Dendritic Development.
Shimobayashi E; Kapfhammer JP
Curr Neuropharmacol; 2018 Jan; 16(2):151-159. PubMed ID: 28554312
[TBL] [Abstract][Full Text] [Related]
11. Investigation of Visual System Involvement in Spinocerebellar Ataxia Type 14.
Ihl T; Kadas EM; Oberwahrenbrock T; Endres M; Klockgether T; Schroeter J; Brandt AU; Paul F; Minnerop M; Doss S; Schmitz-Hübsch T; Zimmermann HG
Cerebellum; 2020 Aug; 19(4):469-482. PubMed ID: 32338350
[TBL] [Abstract][Full Text] [Related]
12. Pharmacological induction of heat shock proteins ameliorates toxicity of mutant PKCγ in spinocerebellar ataxia type 14.
Nakazono A; Adachi N; Takahashi H; Seki T; Hamada D; Ueyama T; Sakai N; Saito N
J Biol Chem; 2018 Sep; 293(38):14758-14774. PubMed ID: 30093405
[TBL] [Abstract][Full Text] [Related]
13. Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4.
Hiramoto K; Kawakami H; Inoue K; Seki T; Maruyama H; Morino H; Matsumoto M; Kurisu K; Sakai N
Mov Disord; 2006 Sep; 21(9):1355-60. PubMed ID: 16763984
[TBL] [Abstract][Full Text] [Related]
14. A New Mouse Model Related to SCA14 Carrying a Pseudosubstrate Domain Mutation in PKCγ Shows Perturbed Purkinje Cell Maturation and Ataxic Motor Behavior.
Shimobayashi E; Kapfhammer JP
J Neurosci; 2021 Mar; 41(9):2053-2068. PubMed ID: 33478986
[TBL] [Abstract][Full Text] [Related]
15. 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
Arch Neurol; 2004 Aug; 61(8):1242-8. PubMed ID: 15313841
[TBL] [Abstract][Full Text] [Related]
16. Simplified Model of PKCγ Signaling Dysregulation and Cytosol-to-Membrane Translocation Kinetics During Neurodegenerative Spinocerebellar Ataxia Type 14 (SCA14).
Aslam N; Alvi F
Front Neurosci; 2019; 13():1397. PubMed ID: 32082104
[TBL] [Abstract][Full Text] [Related]
17. Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report.
Duggirala N; Ngo KJ; Pagnoni SM; Rosa AL; Fogel BL
J Med Case Rep; 2023 Apr; 17(1):168. PubMed ID: 37101238
[TBL] [Abstract][Full Text] [Related]
18. Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype.
Vlak MH; Sinke RJ; Rabelink GM; Kremer BP; van de Warrenburg BP
Mov Disord; 2006 Jul; 21(7):1025-8. PubMed ID: 16547918
[TBL] [Abstract][Full Text] [Related]
19. 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
Ann Clin Transl Neurol; 2021 Apr; 8(4):774-789. PubMed ID: 33739604
[TBL] [Abstract][Full Text] [Related]
20. Mutant PKCγ in spinocerebellar ataxia type 14 disrupts synapse elimination and long-term depression in Purkinje cells in vivo.
Shuvaev AN; Horiuchi H; Seki T; Goenawan H; Irie T; Iizuka A; Sakai N; Hirai H
J Neurosci; 2011 Oct; 31(40):14324-34. PubMed ID: 21976518
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]