Saheki T - Search Results

1

Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue.

Sinasac DS, Crackower MA, Lee JR, Kobayashi K, Saheki T, Scherer SW, Tsui LC. Sinasac DS, et al. Among authors: saheki t. Genomics. 1999 Dec 1;62(2):289-92. doi: 10.1006/geno.1999.6006. Genomics. 1999. PMID: 10610724

2

Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia.

Sinasac DS, Moriyama M, Jalil MA, Begum L, Li MX, Iijima M, Horiuchi M, Robinson BH, Kobayashi K, Saheki T, Tsui LC. Sinasac DS, et al. Among authors: saheki t. Mol Cell Biol. 2004 Jan;24(2):527-36. doi: 10.1128/MCB.24.2.527-536.2004. Mol Cell Biol. 2004. PMID: 14701727 Free PMC article.

3

Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD).

Saheki T, Kobayashi K. Saheki T, et al. J Hum Genet. 2002;47(7):333-41. doi: 10.1007/s100380200046. J Hum Genet. 2002. PMID: 12111366 Review.

4

Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency.

Lu YB, Kobayashi K, Ushikai M, Tabata A, Iijima M, Li MX, Lei L, Kawabe K, Taura S, Yang Y, Liu TT, Chiang SH, Hsiao KJ, Lau YL, Tsui LC, Lee DH, Saheki T. Lu YB, et al. Among authors: saheki t. J Hum Genet. 2005;50(7):338-346. doi: 10.1007/s10038-005-0262-8. Epub 2005 Jul 30. J Hum Genet. 2005. PMID: 16059747

5

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.

Kobayashi K, Sinasac DS, Iijima M, Boright AP, Begum L, Lee JR, Yasuda T, Ikeda S, Hirano R, Terazono H, Crackower MA, Kondo I, Tsui LC, Scherer SW, Saheki T. Kobayashi K, et al. Among authors: saheki t. Nat Genet. 1999 Jun;22(2):159-63. doi: 10.1038/9667. Nat Genet. 1999. PMID: 10369257

6

Pregnancy in a healthy woman with untreated citrullinemia.

Potter MA, Zeesman S, Brennan B, Kobayashi K, Gao HZ, Tabata A, Saheki T, Whelan DT. Potter MA, et al. Among authors: saheki t. Am J Med Genet A. 2004 Aug 15;129A(1):77-82. doi: 10.1002/ajmg.a.20559. Am J Med Genet A. 2004. PMID: 15266621

7

[Molecular basis of citrin deficiency].

Kobayashi K, Saheki T. Kobayashi K, et al. Among authors: saheki t. Seikagaku. 2004 Dec;76(12):1543-59. Seikagaku. 2004. PMID: 15675368 Review. Japanese. No abstract available.

8

Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency.

Saheki T, Iijima M, Li MX, Kobayashi K, Horiuchi M, Ushikai M, Okumura F, Meng XJ, Inoue I, Tajima A, Moriyama M, Eto K, Kadowaki T, Sinasac DS, Tsui LC, Tsuji M, Okano A, Kobayashi T. Saheki T, et al. J Biol Chem. 2007 Aug 24;282(34):25041-52. doi: 10.1074/jbc.M702031200. Epub 2007 Jun 25. J Biol Chem. 2007. PMID: 17591776 Free article.

9

Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia.

Yasuda T, Yamaguchi N, Kobayashi K, Nishi I, Horinouchi H, Jalil MA, Li MX, Ushikai M, Iijima M, Kondo I, Saheki T. Yasuda T, et al. Among authors: saheki t. Hum Genet. 2000 Dec;107(6):537-45. doi: 10.1007/s004390000430. Hum Genet. 2000. PMID: 11153906

10

Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle.

Saheki T, Kobayashi K, Iijima M, Horiuchi M, Begum L, Jalil MA, Li MX, Lu YB, Ushikai M, Tabata A, Moriyama M, Hsiao KJ, Yang Y. Saheki T, et al. Mol Genet Metab. 2004 Apr;81 Suppl 1:S20-6. doi: 10.1016/j.ymgme.2004.01.006. Mol Genet Metab. 2004. PMID: 15050970 Review.

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