Mitochondrial transporters of the SLC25 family and associated diseases: a review (Q38209474)

31 August 2017

title

Mitochondrial transporters of the SLC25 family and associated diseases: a review (English)

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31 August 2017

Ferdinando Palmieri

1

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31 August 2017

publication date

6 May 2014

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Journal of Inherited Metabolic Disease

31 August 2017

published in

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31 August 2017

volume

37

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31 August 2017

issue

4

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31 August 2017

page(s)

565-575

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The human gene SLC25A17 encodes a peroxisomal transporter of coenzyme A, FAD and NAD+

31 August 2017

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

21 January 2018

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Functional and structural role of amino acid residues in the even-numbered transmembrane alpha-helices of the bovine mitochondrial oxoglutarate carrier

21 January 2018

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The mitochondrial citrate transporter, CIC, is essential for mitochondrial homeostasis

21 January 2018

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Tissue-specific expression of the two isoforms of the mitochondrial phosphate carrier in bovine tissues.

21 January 2018

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Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy.

21 January 2018

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Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter.

21 January 2018

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

21 January 2018

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Identification of the mitochondrial glutamate transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms

21 January 2018

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

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Identification of the mitochondrial ATP-Mg/Pi transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution.

21 January 2018

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Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia

21 January 2018

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Identification and functional expression of the mitochondrial pyruvate carrier

21 January 2018

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

21 January 2018

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Human mitochondrial transmembrane metabolite carriers: tissue distribution and its implication for mitochondrial disorders

21 January 2018

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The mitochondrial carnitine/acylcarnitine carrier: function, structure and physiopathology

21 January 2018

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The mitochondrial citrate carrier: a new player in inflammation

21 January 2018

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Role of adenine nucleotide translocator 1 in mtDNA maintenance

21 January 2018

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The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

21 January 2018

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SLC25A1, or CIC, is a novel transcriptional target of mutant p53 and a negative tumor prognostic marker

21 January 2018

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Recombinant expression of the Ca(2+)-sensitive aspartate/glutamate carrier increases mitochondrial ATP production in agonist-stimulated Chinese hamster ovary cells

21 January 2018

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

21 January 2018

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Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation

21 January 2018

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Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children.

21 January 2018

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Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy

21 January 2018

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Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts

21 January 2018

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The substrate specificity of mitochondrial carriers: mutagenesis revisited

21 January 2018

1 reference

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Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria

21 January 2018

1 reference

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The mitochondrial transporter family (SLC25): physiological and pathological implications

21 January 2018

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Diseases caused by defects of mitochondrial carriers: a review

21 January 2018

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The mitochondrial transporter family SLC25: identification, properties and physiopathology

21 January 2018

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Structure and function of mitochondrial carriers - role of the transmembrane helix P and G residues in the gating and transport mechanism

21 January 2018

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Mitochondrial metabolite transport

21 January 2018

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Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria

21 January 2018

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Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy

21 January 2018

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Identification of mitochondrial carriers in Saccharomyces cerevisiae by transport assay of reconstituted recombinant proteins.

21 January 2018

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Evolution, structure and function of mitochondrial carriers: a review with new insights

21 January 2018

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Targeting and assembly of the oxoglutarate carrier: general principles for biogenesis of carrier proteins of the mitochondrial inner membrane

21 January 2018

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Structure of mitochondrial ADP/ATP carrier in complex with carboxyatractyloside

21 January 2018

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SLC25A22 is a novel gene for migrating partial seizures in infancy.

21 January 2018

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Mitochondrial carriers in the cytoplasmic state have a common substrate binding site

21 January 2018

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The mechanism of transport by mitochondrial carriers based on analysis of symmetry

21 January 2018

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Mutant deoxynucleotide carrier is associated with congenital microcephaly

21 January 2018

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SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis

21 January 2018

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

21 January 2018

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AGC1 deficiency associated with global cerebral hypomyelination.

21 January 2018

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Mitochondrial carrier protein biogenesis: role of the chaperones Hsc70 and Hsp90.

21 January 2018

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Expression in Escherichia coli, functional characterization, and tissue distribution of isoforms A and B of the phosphate carrier from bovine mitochondria

21 January 2018

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12 December 2020

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

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12 December 2020

Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.

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12 December 2020

Structures of yeast mitochondrial ADP/ATP carriers support a domain-based alternating-access transport mechanism

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12 December 2020

The sequences of human and bovine genes of the phosphate carrier from mitochondria contain evidence of alternatively spliced forms

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12 December 2020

The mitochondrial citrate/isocitrate carrier plays a regulatory role in glucose-stimulated insulin secretion

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12 December 2020

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

1 reference

12 December 2020

10.1007/S10545-014-9708-5

Identifiers

DOI

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Dimensions Publication ID

31 August 2017

1038106165

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