Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans.

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Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans.

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Heterologous Expression in Yea ...... ted in HHH Syndrome in Humans.

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Heterologous Expression in Yea ...... ted in HHH Syndrome in Humans.

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Heterologous Expression in Yea ...... ted in HHH Syndrome in Humans.

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P1476

Heterologous Expression in Yea ...... ted in HHH Syndrome in Humans.

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P2093

Eva Trevisson

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Leonardo Salviati

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Mara Doimo

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Raffaele Lopreiato

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Raissa Bortolotto

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Valentina Basso

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P2860

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

The ARG11 gene of Saccharomyces cerevisiae encodes a mitochondrial integral membrane protein required for arginine biosynthesis.

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

Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorder

One-step transformation of yeast in stationary phase

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

The human and mouse SLC25A29 mitochondrial transporters rescue the deficient ornithine metabolism in fibroblasts of patients with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.

The human gene SLC25A29, of solute carrier family 25, encodes a mitochondrial transporter of basic amino acids.

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

Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations.

P304

119-126

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scholarly article

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10.1007/8904_2015_514

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P478

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Filippo M Santorelli

Alessandra Tessa

P577

2015-11-21T00:00:00Z

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P698

26589310

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5059204

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