Suzuki K - Search Results

1

Lack of PPCA expression only partially coincides with lysosomal storage in galactosialidosis mice: indirect evidence for spatial requirement of the catalytic rather than the protective function of PPCA.

Rottier RJ, Hahn CN, Mann LW, del Pilar Martin M, Smeyne RJ, Suzuki K, d'Azzo A. Rottier RJ, et al. Among authors: suzuki k. Hum Mol Genet. 1998 Oct;7(11):1787-94. doi: 10.1093/hmg/7.11.1787. Hum Mol Genet. 1998. PMID: 9736781

2

Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid beta-galactosidase.

Hahn CN, del Pilar Martin M, Schröder M, Vanier MT, Hara Y, Suzuki K, Suzuki K, d'Azzo A. Hahn CN, et al. Among authors: suzuki k. Hum Mol Genet. 1997 Feb;6(2):205-11. doi: 10.1093/hmg/6.2.205. Hum Mol Genet. 1997. PMID: 9063740

3

Paradoxical influence of acid beta-galactosidase gene dosage on phenotype of the twitcher mouse (genetic galactosylceramidase deficiency).

Tohyama J, Vanier MT, Suzuki K, Ezoe T, Matsuda J, Suzuki K. Tohyama J, et al. Among authors: suzuki k. Hum Mol Genet. 2000 Jul 1;9(11):1699-707. doi: 10.1093/hmg/9.11.1699. Hum Mol Genet. 2000. PMID: 10861297

4

Dramatic phenotypic improvement during pregnancy in a genetic leukodystrophy: estrogen appears to be a critical factor.

Matsuda J, Vanier MT, Saito Y, Suzuki K, Suzuki K. Matsuda J, et al. Among authors: suzuki k. Hum Mol Genet. 2001 Nov 1;10(23):2709-15. doi: 10.1093/hmg/10.23.2709. Hum Mol Genet. 2001. PMID: 11726558

5

Mice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosis.

Sango K, McDonald MP, Crawley JN, Mack ML, Tifft CJ, Skop E, Starr CM, Hoffmann A, Sandhoff K, Suzuki K, Proia RL. Sango K, et al. Among authors: suzuki k. Nat Genet. 1996 Nov;14(3):348-52. doi: 10.1038/ng1196-348. Nat Genet. 1996. PMID: 8896570

6

Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids.

Fujita N, Suzuki K, Vanier MT, Popko B, Maeda N, Klein A, Henseler M, Sandhoff K, Nakayasu H, Suzuki K. Fujita N, et al. Among authors: suzuki k. Hum Mol Genet. 1996 Jun;5(6):711-25. doi: 10.1093/hmg/5.6.711. Hum Mol Genet. 1996. PMID: 8776585

7

A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse.

Matsuda J, Vanier MT, Saito Y, Tohyama J, Suzuki K, Suzuki K. Matsuda J, et al. Among authors: suzuki k. Hum Mol Genet. 2001 May 15;10(11):1191-9. doi: 10.1093/hmg/10.11.1191. Hum Mol Genet. 2001. PMID: 11371512

8

Mice deficient in all forms of lysosomal beta-hexosaminidase show mucopolysaccharidosis-like pathology.

Suzuki K, Sango K, Proia RL, Langaman C. Suzuki K, et al. J Neuropathol Exp Neurol. 1997 Jun;56(6):693-703. J Neuropathol Exp Neurol. 1997. PMID: 9184660

9

Mouse models of human lysosomal diseases.

Suzuki K, Proia RL, Suzuki K. Suzuki K, et al. Brain Pathol. 1998 Jan;8(1):195-215. doi: 10.1111/j.1750-3639.1998.tb00145.x. Brain Pathol. 1998. PMID: 9458176 Free PMC article. Review.

10

Myopathy phenotype of transgenic mice expressing active site-mutated inactive p94 skeletal muscle-specific calpain, the gene product responsible for limb girdle muscular dystrophy type 2A.

Tagawa K, Taya C, Hayashi Y, Nakagawa M, Ono Y, Fukuda R, Karasuyama H, Toyama-Sorimachi N, Katsui Y, Hata S, Ishiura S, Nonaka I, Seyama Y, Arahata K, Yonekawa H, Sorimachi H, Suzuki K. Tagawa K, et al. Among authors: suzuki k. Hum Mol Genet. 2000 May 22;9(9):1393-402. doi: 10.1093/hmg/9.9.1393. Hum Mol Genet. 2000. PMID: 10814721

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