Molecular pathophysiology of neurodegenerative disease caused by γPKC mutations

References

• Adachi N, Kobayashi T, Takahashi H, Kawasaki T, Shirai Y, Ueyama T, . 2008. Enzymological analysis of mutant protein kinase Cγ causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis. J Biol Chem 283: 19854–19863.
   PubMed Web of Science ®Google Scholar
• Chen C, Kano M, Abeliovich A, Chen L, Bao S, Kim JJ, . 1995. Impaired motor coordination correlates with persistent multiple climbing fiber innervation in PKC gamma mutant mice. Cell 83:1233–1242.
   PubMed Web of Science ®Google Scholar
• Chen DH, Brkanac Z, Verlinde CL, Tan XJ, Bylenok L, Nochlin D, . 2003. Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet 72:839–849.
   PubMedGoogle Scholar
• Chen DH, Cimino PJ, Ranum LP, Zoghbi HY, Yabe I, Schut L, . 2005. The clinical and genetic spectrum of spinocerebellar ataxia 14. Neurology 64:1258–1260.
   PubMedGoogle Scholar
• Crowe JH. 2007. Trehalose as a “chemical chaperone”: fact and fantasy. Adv Exp Med Biol 594:143–158.
   PubMed Web of Science ®Google Scholar
• Durr A. 2010. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol 9:885–894.
   PubMed Web of Science ®Google Scholar
• Glabe CG. 2006. Common mechanisms of amyloid oligomer pathogenesis in degenerative disease. Neurobiol Aging 27:570–575.
   PubMed Web of Science ®Google Scholar
• Hiramoto K, Kawakami H, Inoue K, Seki T, Maruyama H, Morino H, . 2006. Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4. Mov Disord 21:1355–1360.
   PubMedGoogle Scholar
• Nishizuka Y. 1995. Protein kinase C and lipid signaling for sustained cellular responses. Faseb J 9:484–496.
   PubMed Web of Science ®Google Scholar
• Paulson HL. 2009. The spinocerebellar ataxias. J Neuroophthalmol 29:227–237.
   PubMed Web of Science ®Google Scholar
• Ross CA, Pickart CM. 2004. The ubiquitin-proteasome pathway in Parkinson's disease and other neurodegenerative diseases. Trends Cell Biol 14:703–711.
   PubMed Web of Science ®Google Scholar
• Ross CA, Poirier MA. 2004. Protein aggregation and neurodegenerative disease. Nat Med 10(Suppl):S10–17.
   PubMedGoogle Scholar
• Saito N, Shirai Y. 2002. Protein kinase C gamma (PKC gamma): function of neuron specific isotype. J Biochem (Tokyo) 132:683–687.
   PubMed Web of Science ®Google Scholar
• Sakai N, Sasaki K, Ikegaki N, Shirai Y, Ono Y, Saito N. 1997. Direct visualization of the translocation of the gamma-subspecies of protein kinase C in living cells using fusion proteins with green fluorescent protein. J Cell Biol 139:1465–1476.
   PubMedGoogle Scholar
• Sakai N, Tsubokawa H, Matsuzaki M, Kajimoto T, Takahashi E, Ren Y, . 2004. Propagation of gammaPKC translocation along the dendrites of Purkinje cell in gammaPKC-GFP transgenic mice. Genes Cells 9:945–957.
   PubMedGoogle Scholar
• Seki T, Adachi N, Ono Y, Mochizuki H, Hiramoto K, Amano T, . 2005. Mutant protein kinase Cgamma found in spinocerebellar ataxia type 14 is susceptible to aggregation and causes cell death. J Biol Chem 280:29096–29106.
   PubMedGoogle Scholar
• Seki T, Takahashi H, Adachi N, Abe N, Shimahara T, Saito N, . 2007. Aggregate formation of mutant protein kinase C gamma found in spinocerebellar ataxia type 14 impairs ubiquitin-proteasome system and induces endoplasmic reticulum stress. Eur J Neurosci 26:3126–3140.
   PubMedGoogle Scholar
• Seki T, Shimahara T, Yamamoto K, Abe N, Amano T, Adachi N, . 2009. Mutant gammaPKC found in spinocerebellar ataxia type 14 induces aggregate-independent maldevelopment of dendrites in primary cultured Purkinje cells. Neurobiol Dis 33:260–273.
   PubMedGoogle Scholar
• Seki T, Abe-Seki N, Kikawada T, Takahashi H, Yamamoto K, Adachi N, . 2010. Effect of trehalose on the properties of mutant gamma PKC, which causes spinocerebellar ataxia type 14, in neuronal cell lines and cultured Purkinje cells. J Biol Chem 285:33252–33264.
   PubMed Web of Science ®Google Scholar
• Shirai Y, Sakai N, Saito N. 1998. Subspecies-specific targeting mechanism of protein kinase C. Jpn J Pharmacol 78:411–417.
   PubMedGoogle Scholar
• Tanaka M, Machida Y, Niu S, Ikeda T, Jana NR, Doi H, . 2004. Trehalose alleviates polyglutamine-mediated pathology in a mouse model of Huntington disease. Nat Med 10:148–154.
   PubMed Web of Science ®Google Scholar
• Yamamoto K, Seki T, Adachi N, Takahashi T, Tanaka S, Hide I, . 2010. Mutant protein kinase C gamma that causes spinocerebellar ataxia type 14 (SCA14) is selectively degraded by autophagy. Genes Cells 15:425–438.
   PubMedGoogle Scholar