(Q22009988)

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

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

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J A Camacho

1

author given names

Jose A.

author last names

Camacho

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Dimensions Publication ID

14 September 2022

C Obie

2

author given names

Cassandra

author last names

Obie

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Dimensions Publication ID

14 September 2022

B Biery

3

author given names

Barbara

author last names

Biery

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Dimensions Publication ID

14 September 2022

B K Goodman

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author given names

Barbara K.

author last names

Goodman

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Dimensions Publication ID

14 September 2022

C A Hu

5

author given names

Chien-An

author last names

Hu

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14 September 2022

S Almashanu

6

author given names

Shlomo

author last names

Almashanu

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14 September 2022

G Steel

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author given names

Gary

author last names

Steel

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14 September 2022

R Casey

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author given names

Robin

author last names

Casey

1 reference

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14 September 2022

M Lambert

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author given names

Marie

author last names

Lambert

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14 September 2022

G A Mitchell

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author given names

Grant A.

author last names

Mitchell

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14 September 2022

D Valle

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author given names

David

author last names

Valle

1 reference

Dimensions Publication ID

14 September 2022

language of work or name

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publication date

June 1999

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Nature Genetics

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22

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2

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151-8

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Evidence for the existence of an ornithine/citrulline antiporter in rat liver mitochondria

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Identification and purification of the ornithine/citrulline carrier from rat liver mitochondria

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The purified and reconstituted ornithine/citrulline carrier from rat liver mitochondria: electrical nature and coupling of the exchange reaction with H+ translocation

1 reference

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Kinetic characterization of the reconstituted ornithine carrier from rat liver mitochondria

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Ornithinemia, hyperammonemia, and homocitrullinuria. A disease associated with mental retardation and possibly caused by defective mitochondrial transport

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Hyperammonemia-hyperornithinemia-homocitrullinuria syndrome: neurologic, ophthalmologic, and neuropsychologic examination of six patients.

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Neonatal form of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria (HHH) syndrome and prenatal diagnosis

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Neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with favorable outcome

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Mitochondrial metabolite carrier proteins: purification, reconstitution, and transport studies

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Mitochondrial carrier proteins

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Phylogenetic classification of the mitochondrial carrier family of Saccharomyces cerevisiae

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Highly conserved charge-pair networks in the mitochondrial carrier family

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Structural and functional aspects of the phosphate carrier from mitochondria

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The phosphate carrier from yeast mitochondria. Dimerization is a prerequisite for function

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

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

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Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

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Bacterial overexpression, purification, and reconstitution of the carnitine/acylcarnitine carrier from rat liver mitochondria

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Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient

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Regulation of mRNA levels for five urea cycle enzymes in rat liver by diet, cyclic AMP, and glucocorticoids

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An analysis of vertebrate mRNA sequences: intimations of translational control

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High-resolution YAC-cosmid-STS map of human chromosome 13.

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Defective ornithine metabolism in cultured skin fibroblasts from patients with the syndrome of hyperornithinemia, hyperammonemia and homocitrullinuria.

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Molecular cloning of a peroxisomal Ca2+-dependent member of the mitochondrial carrier superfamily

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Identification and characterization of human PMP34, a protein closely related to the peroxisomal integral membrane protein PMP47 of Candida boidinii

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Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: low creatine excretion and effect of citrulline, arginine, or ornithine supplement

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Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Associated with Decreased Carbamyl Phosphate Synthetase I Activity

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Ornithine loading did not prevent induced hyperammonemia in a patient with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

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