Year |
Citation |
Score |
2019 |
Machiraju P, Wang X, Sabouny R, Huang J, Zhao T, Iqbal F, King M, Prasher D, Lodha A, Jimenez-Tellez N, Ravandi A, Argiropoulos B, Sinasac D, Khan A, Shutt TE, et al. SS-31 Peptide Reverses the Mitochondrial Fragmentation Present in Fibroblasts From Patients With DCMA, a Mitochondrial Cardiomyopathy. Frontiers in Cardiovascular Medicine. 6: 167. PMID 31803760 DOI: 10.3389/Fcvm.2019.00167 |
0.41 |
|
2019 |
Sabouny R, Wong R, Lee-Glover L, Greenway SC, Sinasac DS, Khan A, Shutt TE. Characterization of the C584R variant in the mtDNA depletion syndrome gene FBXL4, reveals a novel role for FBXL4 as a regulator of mitochondrial fusion. Biochimica Et Biophysica Acta. Molecular Basis of Disease. 165536. PMID 31442532 DOI: 10.1016/J.Bbadis.2019.165536 |
0.422 |
|
2019 |
Phillips E, Sasarman F, Sinasac DS, Al-Hertani W. D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the gene. Molecular Genetics and Metabolism Reports. 20: 100482. PMID 31431883 DOI: 10.1016/J.Ymgmr.2019.100482 |
0.334 |
|
2019 |
Newell C, Khan A, Sinasac D, Shoffner J, Friederich MW, Van Hove JLK, Hume S, Shearer J, Sosova I. Hybrid gel electrophoresis using skin fibroblasts to aid in diagnosing mitochondrial disease. Neurology. Genetics. 5: e336. PMID 31192304 DOI: 10.1212/Nxg.0000000000000336 |
0.334 |
|
2019 |
Saheki T, Moriyama M, Kuroda E, Funahashi A, Yasuda I, Setogawa Y, Gao Q, Ushikai M, Furuie S, Yamamura KI, Takano K, Nakamura Y, Eto K, Kadowaki T, Sinasac DS, et al. Pivotal role of inter-organ aspartate metabolism for treatment of mitochondrial aspartate-glutamate carrier 2 (citrin) deficiency, based on the mouse model. Scientific Reports. 9: 4179. PMID 30862943 DOI: 10.1038/S41598-019-39627-Y |
0.447 |
|
2019 |
Zhao T, Goedhart CM, Sam PN, Sabouny R, Lingrell S, Cornish AJ, Lamont RE, Bernier FP, Sinasac D, Parboosingh JS, Vance JE, Claypool SM, Innes AM, Shutt TE. is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes. Life Science Alliance. 2. PMID 30858161 DOI: 10.26508/lsa.201900353 |
0.336 |
|
2017 |
Davis K, Webster D, Smith C, Jackson S, Sinasac D, Seargeant L, Wei XC, Ferreira P, Midgley J, Foster Y, Li X, He M, Al-Hertani W. ALG9-CDG: New clinical case and review of the literature. Molecular Genetics and Metabolism Reports. 13: 55-63. PMID 28932688 DOI: 10.1016/J.Ymgmr.2017.08.004 |
0.351 |
|
2017 |
Saheki T, Inoue K, Ono H, Fujimoto Y, Furuie S, Yamamura KI, Kuroda E, Ushikai M, Asakawa A, Inui A, Eto K, Kadowaki T, Moriyama M, Sinasac DS, Yamamoto T, et al. Oral aversion to dietary sugar, ethanol and glycerol correlates with alterations in specific hepatic metabolites in a mouse model of human citrin deficiency. Molecular Genetics and Metabolism. PMID 28259708 DOI: 10.1016/J.Ymgme.2017.02.004 |
0.473 |
|
2015 |
Moriyama M, Fujimoto Y, Rikimaru S, Ushikai M, Kuroda E, Kawabe K, Takano K, Asakawa A, Inui A, Eto K, Kadowaki T, Sinasac DS, Okano Y, Yazaki M, Ikeda SI, et al. Mechanism for increased hepatic glycerol synthesis in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse: Urine glycerol and glycerol 3-phosphate as potential diagnostic markers of human citrin deficiency. Biochimica Et Biophysica Acta. 1852: 1787-1795. PMID 25952905 DOI: 10.1016/J.Bbadis.2015.04.023 |
0.462 |
|
2012 |
Saheki T, Inoue K, Ono H, Katsura N, Yokogawa M, Yoshidumi Y, Furuie S, Kuroda E, Ushikai M, Asakawa A, Inui A, Eto K, Kadowaki T, Sinasac DS, Yamamura K, et al. Effects of supplementation on food intake, body weight and hepatic metabolites in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse model of human citrin deficiency. Molecular Genetics and Metabolism. 107: 322-9. PMID 22921887 DOI: 10.1016/J.Ymgme.2012.07.021 |
0.414 |
|
2011 |
Saheki T, Inoue K, Ono H, Tushima A, Katsura N, Yokogawa M, Yoshidumi Y, Kuhara T, Ohse M, Eto K, Kadowaki T, Sinasac DS, Kobayashi K. Metabolomic analysis reveals hepatic metabolite perturbations in citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mice, a model of human citrin deficiency. Molecular Genetics and Metabolism. 104: 492-500. PMID 21908222 DOI: 10.1016/J.Ymgme.2011.08.015 |
0.485 |
|
2007 |
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, et al. Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency. The Journal of Biological Chemistry. 282: 25041-52. PMID 17591776 DOI: 10.1074/Jbc.M702031200 |
0.656 |
|
2006 |
Moriyama M, Li MX, Kobayashi K, Sinasac DS, Kannan Y, Iijima M, Horiuchi M, Tsui LC, Tanaka M, Nakamura Y, Saheki T. Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient mice. Journal of Hepatology. 44: 930-8. PMID 16458993 DOI: 10.1016/J.Jhep.2005.09.018 |
0.629 |
|
2004 |
Sinasac DS, Moriyama M, Jalil MA, Begum L, Li MX, Iijima M, Horiuchi M, Robinson BH, Kobayashi K, Saheki T, Tsui LC. Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia. Molecular and Cellular Biology. 24: 527-36. PMID 14701727 DOI: 10.1128/Mcb.24.2.527-536.2004 |
0.64 |
|
1999 |
Crackower MA, Sinasac DS, Lee JR, Herbrick JA, Tsui LC, Scherer SW. Assignment of the SLC25A12 gene coding for the human calcium-binding mitochondrial solute carrier protein aralar to human chromosome 2q24. Cytogenetics and Cell Genetics. 87: 197-8. PMID 10702666 DOI: 10.1159/000015465 |
0.569 |
|
1999 |
Sinasac DS, Crackower MA, Lee JR, Kobayashi K, Saheki T, Scherer SW, Tsui LC. Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue. Genomics. 62: 289-92. PMID 10610724 DOI: 10.1006/Geno.1999.6006 |
0.626 |
|
1999 |
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. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. Nature Genetics. 22: 159-63. PMID 10369257 DOI: 10.1038/9667 |
0.646 |
|
1999 |
Crackower MA, Sinasac DS, Xia J, Motoyama J, Prochazka M, Rommens JM, Scherer SW, Tsui LC. Cloning and characterization of two cytoplasmic dynein intermediate chain genes in mouse and human. Genomics. 55: 257-67. PMID 10049579 DOI: 10.1006/Geno.1998.5665 |
0.568 |
|
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