St George-Hyslop PH - Search Results

1

A presenilin-1 mutation in a Japanese family with Alzheimer's disease and distinctive abnormalities on cranial MRI.

Aoki M, Abe K, Oda N, Ikeda M, Tsuda T, Kanai M, Shoji M, St George-Hyslop PH, Itoyama Y. Aoki M, et al. Neurology. 1997 Apr;48(4):1118-20. doi: 10.1212/wnl.48.4.1118. Neurology. 1997. PMID: 9109915

2

The clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients.

Ikeda M, Sharma V, Sumi SM, Rogaeva EA, Poorkaj P, Sherrington R, Nee L, Tsuda T, Oda N, Watanabe M, Aoki M, Shoji M, Abe K, Itoyama Y, Hirai S, Schellenberg GD, Bird TD, St George-Hyslop PH. Ikeda M, et al. Ann Neurol. 1996 Dec;40(6):912-7. doi: 10.1002/ana.410400614. Ann Neurol. 1996. PMID: 9007097

3

Carboxyl-terminal fragments of presenilin-1 are closely related to cytoskeletal abnormalities in Alzheimer's brains.

Tomidokoro Y, Ishiguro K, Igeta Y, Matsubara E, Kanai M, Shizuka M, Kawarabayashi T, Harigaya Y, Kawakatsu S, Ii K, Ikeda M, St George-Hyslop PH, Hirai S, Okamoto K, Shoji M. Tomidokoro Y, et al. Biochem Biophys Res Commun. 1999 Mar 24;256(3):512-8. doi: 10.1006/bbrc.1998.0119. Biochem Biophys Res Commun. 1999. PMID: 10080929

4

Variable clinical symptoms in familial amyotrophic lateral sclerosis with a novel point mutation in the Cu/Zn superoxide dismutase gene.

Ikeda M, Abe K, Aoki M, Sahara M, Watanabe M, Shoji M, St George-Hyslop PH, Hirai S, Itoyama Y. Ikeda M, et al. Neurology. 1995 Nov;45(11):2038-42. doi: 10.1212/wnl.45.11.2038. Neurology. 1995. PMID: 7501156

5

Enhanced accumulation of tau in doubly transgenic mice expressing mutant betaAPP and presenilin-1.

Samura E, Shoji M, Kawarabayashi T, Sasaki A, Matsubara E, Murakami T, Wuhua X, Tamura S, Ikeda M, Ishiguro K, Saido TC, Westaway D, St George Hyslop P, Harigaya Y, Abe K. Samura E, et al. Brain Res. 2006 Jun 13;1094(1):192-9. doi: 10.1016/j.brainres.2005.12.134. Epub 2006 May 19. Brain Res. 2006. PMID: 16713590

6

Generation of amyloid beta protein from a presenilin-1 and betaAPP complex.

Shizuka-Ikeda M, Matsubara E, Ikeda M, Kanai M, Tomidokoro Y, Ikeda Y, Watanabe M, Kawarabayashi T, Harigaya Y, Okamoto K, Maruyama K, Castaño EM, St George-Hyslop P, Shoji M. Shizuka-Ikeda M, et al. Biochem Biophys Res Commun. 2002 Mar 29;292(2):571-8. doi: 10.1006/bbrc.2002.6681. Biochem Biophys Res Commun. 2002. PMID: 11906199

7

Increased production of beta-amyloid and vulnerability to endoplasmic reticulum stress by an aberrant spliced form of presenilin 2.

Sato N, Imaizumi K, Manabe T, Taniguchi M, Hitomi J, Katayama T, Yoneda T, Morihara T, Yasuda Y, Takagi T, Kudo T, Tsuda T, Itoyama Y, Makifuchi T, Fraser PE, St George-Hyslop P, Tohyama M. Sato N, et al. J Biol Chem. 2001 Jan 19;276(3):2108-14. doi: 10.1074/jbc.M006886200. Epub 2000 Oct 12. J Biol Chem. 2001. PMID: 11031265 Free article.

8

Presenilin-1 mutations downregulate the signalling pathway of the unfolded-protein response.

Katayama T, Imaizumi K, Sato N, Miyoshi K, Kudo T, Hitomi J, Morihara T, Yoneda T, Gomi F, Mori Y, Nakano Y, Takeda J, Tsuda T, Itoyama Y, Murayama O, Takashima A, St George-Hyslop P, Takeda M, Tohyama M. Katayama T, et al. Nat Cell Biol. 1999 Dec;1(8):479-85. doi: 10.1038/70265. Nat Cell Biol. 1999. PMID: 10587643

9

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.

Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, Chi H, Lin C, Li G, Holman K, Tsuda T, Mar L, Foncin JF, Bruni AC, Montesi MP, Sorbi S, Rainero I, Pinessi L, Nee L, Chumakov I, Pollen D, Brookes A, Sanseau P, Polinsky RJ, Wasco W, Da Silva HA, Haines JL, Perkicak-Vance MA, Tanzi RE, Roses AD, Fraser PE, Rommens JM, St George-Hyslop PH. Sherrington R, et al. Nature. 1995 Jun 29;375(6534):754-60. doi: 10.1038/375754a0. Nature. 1995. PMID: 7596406

10

Analysis of the c-FOS gene on chromosome 14 and the promoter of the amyloid precursor protein gene in familial Alzheimer's disease.

Rogaev EI, Lukiw WJ, Vaula G, Haines JL, Rogaeva EA, Tsuda T, Alexandrova N, Liang Y, Mortilla M, Amaducci L, Bergamini L, Bruni AC, Foncin JF, Macciardi F, Montesi M, Sorbi S, Rainero I, Pinessi L, Polinsky RJ, Frommelt P, Duara R, Lopez R, Pollen D, Gusella JF, Tanzi R, MacLachlan D, Crapper D, St George-Hyslop PH, et al. Rogaev EI, et al. Neurology. 1993 Nov;43(11):2275-9. doi: 10.1212/wnl.43.11.2275. Neurology. 1993. PMID: 8232942

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