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Items: 24


Pivotal role of inter-organ aspartate metabolism for treatment of mitochondrial aspartate-glutamate carrier 2 (citrin) deficiency, based on the mouse model.

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, Furukawa T, Horiuchi M, Tai YH.

Sci Rep. 2019 Mar 12;9(1):4179. doi: 10.1038/s41598-019-39627-y.


PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes.

Zhao T, Goedhart CM, Sam PN, Sabouny R, Lingrell S, Cornish AJ, Lamont RE, Bernier FP, Sinasac D, Parboosingh JS; Care4Rare Canada Consortium, Vance JE, Claypool SM, Innes AM, Shutt TE.

Life Sci Alliance. 2019 Mar 11;2(2). pii: e201900353. doi: 10.26508/lsa.201900353. Print 2019 Apr.


The relationship between d-beta-hydroxybutyrate blood concentrations and seizure control in children treated with the ketogenic diet for medically intractable epilepsy.

Buchhalter JR, D'Alfonso S, Connolly M, Fung E, Michoulas A, Sinasac D, Singer R, Smith J, Singh N, Rho JM.

Epilepsia Open. 2017 May 19;2(3):317-321. doi: 10.1002/epi4.12058. eCollection 2017 Sep.


ALG9-CDG: New clinical case and review of the literature.

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.

Mol Genet Metab Rep. 2017 Sep 6;13:55-63. doi: 10.1016/j.ymgmr.2017.08.004. eCollection 2017 Dec.


A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease.

Barmherzig R, Bullivant G, Cordeiro D, Sinasac DS, Blaser S, Mercimek-Mahmutoglu S.

Pediatr Neurol. 2017 Sep;74:87-91.e2. doi: 10.1016/j.pediatrneurol.2017.05.022. Epub 2017 Jun 1. Review.


Oral aversion to dietary sugar, ethanol and glycerol correlates with alterations in specific hepatic metabolites in a mouse model of human citrin deficiency.

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, Furukawa T, Kobayashi K.

Mol Genet Metab. 2017 Apr;120(4):306-316. doi: 10.1016/j.ymgme.2017.02.004. Epub 2017 Feb 14.


Genetic control of obesity, glucose homeostasis, dyslipidemia and fatty liver in a mouse model of diet-induced metabolic syndrome.

Sinasac DS, Riordan JD, Spiezio SH, Yandell BS, Croniger CM, Nadeau JH.

Int J Obes (Lond). 2016 Feb;40(2):346-55. doi: 10.1038/ijo.2015.184. Epub 2015 Sep 18.


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.

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 S, Zhang C, Song YZ, Sakamoto O, Kure S, Mitsubuchi H, Endo F, Horiuchi M, Nakamura Y, Yamamura K, Saheki T.

Biochim Biophys Acta. 2015 Sep;1852(9):1787-95. doi: 10.1016/j.bbadis.2015.04.023. Epub 2015 May 5.


A novel genetic locus linked to pro-inflammatory cytokines after virulent H5N1 virus infection in mice.

Boon AC, Williams RW, Sinasac DS, Webby RJ.

BMC Genomics. 2014 Nov 24;15:1017. doi: 10.1186/1471-2164-15-1017.


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.

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, Kobayashi K.

Mol Genet Metab. 2012 Nov;107(3):322-9. doi: 10.1016/j.ymgme.2012.07.021. Epub 2012 Aug 2.


Metabolomic analysis reveals hepatic metabolite perturbations in citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mice, a model of human citrin deficiency.

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.

Mol Genet Metab. 2011 Dec;104(4):492-500. doi: 10.1016/j.ymgme.2011.08.015. Epub 2011 Aug 19.


Analyzing complex traits with congenic strains.

Shao H, Sinasac DS, Burrage LC, Hodges CA, Supelak PJ, Palmert MR, Moreno C, Cowley AW Jr, Jacob HJ, Nadeau JH.

Mamm Genome. 2010 Jun;21(5-6):276-86. doi: 10.1007/s00335-010-9267-5. Epub 2010 Jun 4.


Genetic resistance to diet-induced obesity in chromosome substitution strains of mice.

Burrage LC, Baskin-Hill AE, Sinasac DS, Singer JB, Croniger CM, Kirby A, Kulbokas EJ, Daly MJ, Lander ES, Broman KW, Nadeau JH.

Mamm Genome. 2010 Apr;21(3-4):115-29. doi: 10.1007/s00335-010-9247-9. Epub 2010 Feb 3.


Baseline characteristics of patients enrolled in the Canadian Fabry Disease Initiative.

Sirrs S, Clarke JT, Bichet DG, Casey R, Lemoine K, Flowerdew G, Sinasac DS, West ML.

Mol Genet Metab. 2010 Apr;99(4):367-73. doi: 10.1016/j.ymgme.2009.11.001. Epub 2009 Nov 16.


Genetic factors for resistance to diet-induced obesity and associated metabolic traits on mouse chromosome 17.

Millward CA, Burrage LC, Shao H, Sinasac DS, Kawasoe JH, Hill-Baskin AE, Ernest SR, Gornicka A, Hsieh CW, Pisano S, Nadeau JH, Croniger CM.

Mamm Genome. 2009 Feb;20(2):71-82. doi: 10.1007/s00335-008-9165-2. Epub 2009 Jan 10.


Genetic architecture of complex traits: large phenotypic effects and pervasive epistasis.

Shao H, Burrage LC, Sinasac DS, Hill AE, Ernest SR, O'Brien W, Courtland HW, Jepsen KJ, Kirby A, Kulbokas EJ, Daly MJ, Broman KW, Lander ES, Nadeau JH.

Proc Natl Acad Sci U S A. 2008 Dec 16;105(50):19910-4. doi: 10.1073/pnas.0810388105. Epub 2008 Dec 9.


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.

J Biol Chem. 2007 Aug 24;282(34):25041-52. Epub 2007 Jun 25.


Mice with a deletion in the gene for CCAAT/enhancer-binding protein beta are protected against diet-induced obesity.

Millward CA, Heaney JD, Sinasac DS, Chu EC, Bederman IR, Gilge DA, Previs SF, Croniger CM.

Diabetes. 2007 Jan;56(1):161-7.


Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient mice.

Moriyama M, Li MX, Kobayashi K, Sinasac DS, Kannan Y, Iijima M, Horiuchi M, Tsui LC, Tanaka M, Nakamura Y, Saheki T.

J Hepatol. 2006 May;44(5):930-8. Epub 2005 Nov 8.


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.

Mol Cell Biol. 2004 Jan;24(2):527-36.


Assignment of the SLC25A12 gene coding for the human calcium-binding mitochondrial solute carrier protein aralar to human chromosome 2q24.

Crackower MA, Sinasac DS, Lee JR, Herbrick JA, Tsui LC, Scherer SW.

Cytogenet Cell Genet. 1999;87(3-4):197-8. No abstract available.


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.

Genomics. 1999 Dec 1;62(2):289-92.


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.

Nat Genet. 1999 Jun;22(2):159-63.


Cloning and characterization of two cytoplasmic dynein intermediate chain genes in mouse and human.

Crackower MA, Sinasac DS, Xia J, Motoyama J, Prochazka M, Rommens JM, Scherer SW, Tsui LC.

Genomics. 1999 Feb 1;55(3):257-67.


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