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Items: 1 to 20 of 95

1.

Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia.

Lindhurst MJ, Fiermonte G, Song S, Struys E, De Leonardis F, Schwartzberg PL, Chen A, Castegna A, Verhoeven N, Mathews CK, Palmieri F, Biesecker LG.

Proc Natl Acad Sci U S A. 2006 Oct 24;103(43):15927-32. Epub 2006 Oct 11.

2.

The evidence that the DNC (SLC25A19) is not the mitochondrial deoxyribonucleotide carrier.

Kang J, Samuels DC.

Mitochondrion. 2008 Mar;8(2):103-8. doi: 10.1016/j.mito.2008.01.001. Epub 2008 Jan 18. Review.

PMID:
18280798
3.

Chronic alcohol exposure affects pancreatic acinar mitochondrial thiamin pyrophosphate uptake: studies with mouse 266-6 cell line and primary cells.

Srinivasan P, Nabokina S, Said HM.

Am J Physiol Gastrointest Liver Physiol. 2015 Nov 1;309(9):G750-8. doi: 10.1152/ajpgi.00226.2015. Epub 2015 Aug 27.

4.

Inhibition of pancreatic acinar mitochondrial thiamin pyrophosphate uptake by the cigarette smoke component 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone.

Srinivasan P, Thrower EC, Gorelick FS, Said HM.

Am J Physiol Gastrointest Liver Physiol. 2016 May 15;310(10):G874-83. doi: 10.1152/ajpgi.00461.2015. Epub 2016 Mar 17.

5.

Mitochondrial uptake of thiamin pyrophosphate: physiological and cell biological aspects.

Subramanian VS, Nabokina SM, Lin-Moshier Y, Marchant JS, Said HM.

PLoS One. 2013 Aug 30;8(8):e73503. doi: 10.1371/journal.pone.0073503. eCollection 2013. Erratum in: PLoS One. 2017 Oct 11;12 (10 ):e0186541.

6.

Amish microcephaly: Long-term survival and biochemical characterization.

Siu VM, Ratko S, Prasad AN, Prasad C, Rupar CA.

Am J Med Genet A. 2010 Jul;152A(7):1747-51. doi: 10.1002/ajmg.a.33373.

PMID:
20583149
7.

Characterization of the human mitochondrial thiamine pyrophosphate transporter SLC25A19 minimal promoter: a role for NF-Y in regulating basal transcription.

Nabokina SM, Valle JE, Said HM.

Gene. 2013 Oct 10;528(2):248-55. doi: 10.1016/j.gene.2013.06.073. Epub 2013 Jul 18.

8.

Identification and reconstitution of the yeast mitochondrial transporter for thiamine pyrophosphate.

Marobbio CM, Vozza A, Harding M, Bisaccia F, Palmieri F, Walker JE.

EMBO J. 2002 Nov 1;21(21):5653-61.

9.

Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development.

Chen H, Detmer SA, Ewald AJ, Griffin EE, Fraser SE, Chan DC.

J Cell Biol. 2003 Jan 20;160(2):189-200. Epub 2003 Jan 13.

10.

Targeted deletion of the mouse Mitoferrin1 gene: from anemia to protoporphyria.

Troadec MB, Warner D, Wallace J, Thomas K, Spangrude GJ, Phillips J, Khalimonchuk O, Paw BH, Ward DM, Kaplan J.

Blood. 2011 May 19;117(20):5494-502. doi: 10.1182/blood-2010-11-319483. Epub 2011 Feb 10.

11.

SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis.

Spiegel R, Shaag A, Edvardson S, Mandel H, Stepensky P, Shalev SA, Horovitz Y, Pines O, Elpeleg O.

Ann Neurol. 2009 Sep;66(3):419-24. doi: 10.1002/ana.21752.

PMID:
19798730
12.

Mutant deoxynucleotide carrier is associated with congenital microcephaly.

Rosenberg MJ, Agarwala R, Bouffard G, Davis J, Fiermonte G, Hilliard MS, Koch T, Kalikin LM, Makalowska I, Morton DH, Petty EM, Weber JL, Palmieri F, Kelley RI, Schäffer AA, Biesecker LG.

Nat Genet. 2002 Sep;32(1):175-9. Epub 2002 Aug 19.

PMID:
12185364
13.

MISC-1/OGC links mitochondrial metabolism, apoptosis and insulin secretion.

Gallo M, Park D, Luciani DS, Kida K, Palmieri F, Blacque OE, Johnson JD, Riddle DL.

PLoS One. 2011 Mar 23;6(3):e17827. doi: 10.1371/journal.pone.0017827.

14.

Deficiency of zonula occludens-1 causes embryonic lethal phenotype associated with defected yolk sac angiogenesis and apoptosis of embryonic cells.

Katsuno T, Umeda K, Matsui T, Hata M, Tamura A, Itoh M, Takeuchi K, Fujimori T, Nabeshima Y, Noda T, Tsukita S, Tsukita S.

Mol Biol Cell. 2008 Jun;19(6):2465-75. doi: 10.1091/mbc.E07-12-1215. Epub 2008 Mar 19.

15.

Slc25a12 disruption alters myelination and neurofilaments: a model for a hypomyelination syndrome and childhood neurodevelopmental disorders.

Sakurai T, Ramoz N, Barreto M, Gazdoiu M, Takahashi N, Gertner M, Dorr N, Gama Sosa MA, De Gasperi R, Perez G, Schmeidler J, Mitropoulou V, Le HC, Lupu M, Hof PR, Elder GA, Buxbaum JD.

Biol Psychiatry. 2010 May 1;67(9):887-94. doi: 10.1016/j.biopsych.2009.08.042. Epub 2009 Dec 16.

16.

The biochemical properties of the mitochondrial thiamine pyrophosphate carrier from Drosophila melanogaster.

Iacopetta D, Carrisi C, De Filippis G, Calcagnile VM, Cappello AR, Chimento A, Curcio R, Santoro A, Vozza A, Dolce V, Palmieri F, Capobianco L.

FEBS J. 2010 Mar;277(5):1172-81. doi: 10.1111/j.1742-4658.2009.07550.x. Epub 2010 Jan 27.

17.

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.

Ortigoza-Escobar JD, Molero-Luis M, Arias A, Oyarzabal A, Darín N, Serrano M, Garcia-Cazorla A, Tondo M, Hernández M, Garcia-Villoria J, Casado M, Gort L, Mayr JA, Rodríguez-Pombo P, Ribes A, Artuch R, Pérez-Dueñas B.

Brain. 2016 Jan;139(Pt 1):31-8. doi: 10.1093/brain/awv342. Epub 2015 Dec 10.

PMID:
26657515
18.

Embryonic Lethality of Mitochondrial Pyruvate Carrier 1 Deficient Mouse Can Be Rescued by a Ketogenic Diet.

Vanderperre B, Herzig S, Krznar P, Hörl M, Ammar Z, Montessuit S, Pierredon S, Zamboni N, Martinou JC.

PLoS Genet. 2016 May 13;12(5):e1006056. doi: 10.1371/journal.pgen.1006056. eCollection 2016 May.

19.

Loss of vps54 function leads to vesicle traffic impairment, protein mis-sorting and embryonic lethality.

Karlsson P, Droce A, Moser JM, Cuhlmann S, Padilla CO, Heimann P, Bartsch JW, Füchtbauer A, Füchtbauer EM, Schmitt-John T.

Int J Mol Sci. 2013 May 24;14(6):10908-25. doi: 10.3390/ijms140610908.

20.

Reduced N-acetylaspartate levels in mice lacking aralar, a brain- and muscle-type mitochondrial aspartate-glutamate carrier.

Jalil MA, Begum L, Contreras L, Pardo B, Iijima M, Li MX, Ramos M, Marmol P, Horiuchi M, Shimotsu K, Nakagawa S, Okubo A, Sameshima M, Isashiki Y, Del Arco A, Kobayashi K, Satrústegui J, Saheki T.

J Biol Chem. 2005 Sep 2;280(35):31333-9. Epub 2005 Jun 29.

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