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Items: 1 to 20 of 192

1.

The use of yeast mitochondria to study the properties of wild-type and mutant human mitochondrial ornithine transporter.

Morizono H, Woolston JE, Colombini M, Tuchman M.

Mol Genet Metab. 2005 Dec;86(4):431-40. Epub 2005 Oct 26.

PMID:
16256388
2.

The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms.

Fiermonte G, Dolce V, David L, Santorelli FM, Dionisi-Vici C, Palmieri F, Walker JE.

J Biol Chem. 2003 Aug 29;278(35):32778-83. Epub 2003 Jun 13.

3.
4.

Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.

Camacho JA, Obie C, Biery B, Goodman BK, Hu CA, Almashanu S, Steel G, Casey R, Lambert M, Mitchell GA, Valle D.

Nat Genet. 1999 Jun;22(2):151-8.

PMID:
10369256
6.

Identification and metabolic role of the mitochondrial aspartate-glutamate transporter in Saccharomyces cerevisiae.

Cavero S, Vozza A, del Arco A, Palmieri L, Villa A, Blanco E, Runswick MJ, Walker JE, Cerdán S, Palmieri F, Satrústegui J.

Mol Microbiol. 2003 Nov;50(4):1257-69.

7.

Insights into the mutation-induced HHH syndrome from modeling human mitochondrial ornithine transporter-1.

Wang JF, Chou KC.

PLoS One. 2012;7(1):e31048. doi: 10.1371/journal.pone.0031048. Epub 2012 Jan 26.

8.

Biochemical analysis of decreased ornithine transport activity in the liver mitochondria from patients with hyperornithinemia, hyperammonemia and homocitrullinuria.

Inoue I, Saheki T, Kayanuma K, Uono M, Nakajima M, Takeshita K, Koike R, Yuasa T, Miyatake T, Sakoda K.

Biochim Biophys Acta. 1988 Jan 12;964(1):90-5.

PMID:
3334877
9.

The human mitochondrial ADP/ATP carriers: kinetic properties and biogenesis of wild-type and mutant proteins in the yeast S. cerevisiae.

De Marcos Lousa C, Trézéguet V, Dianoux AC, Brandolin G, Lauquin GJ.

Biochemistry. 2002 Dec 3;41(48):14412-20.

PMID:
12450408
10.

Transport of arginine and ornithine into isolated mitochondria of Saccharomyces cerevisiae.

Soetens O, Crabeel M, El Moualij B, Duyckaerts C, Sluse F.

Eur J Biochem. 1998 Dec 1;258(2):702-9.

11.

Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.

Tessa A, Fiermonte G, Dionisi-Vici C, Paradies E, Baumgartner MR, Chien YH, Loguercio C, de Baulny HO, Nassogne MC, Schiff M, Deodato F, Parenti G, Rutledge SL, Vilaseca MA, Melone MA, Scarano G, Aldamiz-Echevarría L, Besley G, Walter J, Martinez-Hernandez E, Hernandez JM, Pierri CL, Palmieri F, Santorelli FM.

Hum Mutat. 2009 May;30(5):741-8. doi: 10.1002/humu.20930.

PMID:
19242930
12.

Identification of the yeast ARG-11 gene as a mitochondrial ornithine carrier involved in arginine biosynthesis.

Palmieri L, De Marco V, Iacobazzi V, Palmieri F, Runswick MJ, Walker JE.

FEBS Lett. 1997 Jun 30;410(2-3):447-51.

14.

[Molecular genetic studies of mitochondrial ornithine transporter deficiency (HHH syndrome)].

Tsujino S, Miyamoto T, Kanazawa N.

Nihon Rinsho. 2001 Nov;59(11):2278-84. Review. Japanese.

PMID:
11712419
15.

Effects of heavy metal cations on the mitochondrial ornithine/citrulline transporter reconstituted in liposomes.

Tonazzi A, Indiveri C.

Biometals. 2011 Dec;24(6):1205-15. doi: 10.1007/s10534-011-9479-5. Epub 2011 Jul 17.

PMID:
21769608
16.

Pathogenic potential of SLC25A15 mutations assessed by transport assays and complementation of Saccharomyces cerevisiae ORT1 null mutant.

Marobbio CM, Punzi G, Pierri CL, Palmieri L, Calvello R, Panaro MA, Palmieri F.

Mol Genet Metab. 2015 May;115(1):27-32. doi: 10.1016/j.ymgme.2015.03.003. Epub 2015 Mar 17.

PMID:
25818551
18.

Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.

Camacho JA, Mardach R, Rioseco-Camacho N, Ruiz-Pesini E, Derbeneva O, Andrade D, Zaldivar F, Qu Y, Cederbaum SD.

Pediatr Res. 2006 Oct;60(4):423-9. Epub 2006 Aug 28.

PMID:
16940241
19.
20.

A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: functional analysis of the mutant protein.

Ersoy Tunalı N, Marobbio CM, Tiryakioğlu NO, Punzi G, Saygılı SK, Onal H, Palmieri F.

Mol Genet Metab. 2014 May;112(1):25-9. doi: 10.1016/j.ymgme.2014.03.002. Epub 2014 Mar 20.

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