Related references
Note: Only part of the references are listed.Expanding Phenotypic Spectrum of Cerebral Aspartate-Glutamate Carrier Isoform 1 (AGC1) Deficiency
Brian Pfeiffer et al.
NEUROPEDIATRICS (2020)
Strategies for fighting mitochondrial diseases
C. Viscomi et al.
JOURNAL OF INTERNAL MEDICINE (2020)
Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13
Melis Demir Kose et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2020)
Mitochondrial functions and rare diseases
L. Dard et al.
MOLECULAR ASPECTS OF MEDICINE (2020)
Urea cycle disorders-update
Shirou Matsumoto et al.
JOURNAL OF HUMAN GENETICS (2019)
The human uncoupling proteins 5 and 6 (UCP5/SLC25A14 and UCP6/SLC25A30) transport sulfur oxyanions, phosphate and dicarboxylates
Ruggiero Gorgoglione et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2019)
Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group
Camille Lemattre et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2019)
Bilateral Striatal Necrosis with Polyneuropathy with a Novel SLC25A19 (Mitochondrial Thiamine Pyrophosphate Carrier OMIMI*606521) Mutation: Treatable Thiamine Metabolic Disorder-A Report of Two Indian Cases
Vykuntaraju K. Gowda et al.
NEUROPEDIATRICS (2019)
Mitochondrial Carriers for Aspartate, Glutamate and Other Amino Acids: A Review
Magnus Monne et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)
Deficiency of Mitochondrial Aspartate-Glutamate Carrier 1 Leads to Oligodendrocyte Precursor Cell Proliferation Defects Both In Vitro and In Vivo
Sabrina Petralla et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)
Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4
Roberta Bottega et al.
JOURNAL OF HUMAN GENETICS (2019)
A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up
Jaehui Ryu et al.
BMC MEDICAL GENETICS (2019)
The Molecular Mechanism of Transport by the Mitochondrial ADP/ATP Carrier
Jonathan J. Ruprecht et al.
CELL (2019)
Pivotal role of inter-organ aspartate metabolism for treatment of mitochondrial aspartate-glutamate carrier 2 (citrin) deficiency, based on the mouse model
Takeyori Saheki et al.
SCIENTIFIC REPORTS (2019)
A Mutation in the Mitochondrial Aspartate/Glutamate Carrier Leads to a More Oxidizing Intramitochondrial Environment and an Inflammatory Myopathy in Dutch Shepherd Dogs
G. Diane Shelton et al.
JOURNAL OF NEUROMUSCULAR DISEASES (2019)
SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency
Giuseppe Punzi et al.
HUMAN MOLECULAR GENETICS (2018)
An overview of combined D-2-and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants
Ana Pop et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2018)
Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis
Homa Majd et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2018)
Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier SLC25A11 Gene Confer a Predisposition to Metastatic Paragangliomas
Alexandre Buffet et al.
CANCER RESEARCH (2018)
Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy
M. Almannai et al.
CLINICAL GENETICS (2018)
Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease
Veronika Boczonadi et al.
GENETICS IN MEDICINE (2018)
Nuclear genes involved in mitochondrial diseases caused by instability of mitochondrial DNA
Joanna Rusecka et al.
JOURNAL OF APPLIED GENETICS (2018)
Medium-chain triglycerides supplement therapy with a low-carbohydrate formula can supply energy and enhance ammonia detoxification in the hepatocytes of patients with adult-onset type II citrullinemia
Kiyoshi Hayasaka et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2018)
Mitochondrial medicine in the omics era
Joyeeta Rahman et al.
LANCET (2018)
Two new cases of mitochondrial myopathy with exercise intolerance, hyperlactatemia and cardiomyopathy, caused by recessive SLC25A4 mutations
Anouk Tosserams et al.
MITOCHONDRION (2018)
Formate rescues neural tube defects caused by mutations in Slc25a32
Jimi Kim et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)
Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease
Elizabeth M. McCormick et al.
CURRENT OPINION IN PEDIATRICS (2018)
Insights into the genotype-phenotype correlation and molecular function of SLC25A46
Alexander J. Abrams et al.
HUMAN MUTATION (2018)
Mitochondrial genetic medicine
Douglas C. Wallace
NATURE GENETICS (2018)
Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy
Martin S. King et al.
NEUROLOGY-GENETICS (2018)
A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion
Idan Cohen et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)
Manifestation of recessive combined D-2-, L-2-hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome
Mariko Eguchi et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)
Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I
M. C. Braunisch et al.
CLINICAL GENETICS (2018)
A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family
S. Khan et al.
BRITISH JOURNAL OF DERMATOLOGY (2018)
Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder
M. Nguyen et al.
CLINICAL GENETICS (2017)
The Conversion of Glutamate by Glutamine Synthase in Neocortical Astrocytes from Juvenile Rat Is Important to Limit Glutamate Spillover and Peri/Extrasynaptic Activation of NMDA Receptors
Yosra Trabelsi et al.
GLIA (2017)
Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2
Christine T. Ferrara et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2017)
Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype
Debby Mei Hellebrekers et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2017)
Mitochondrial ATP-Mg/phosphate carriers transport divalent inorganic cations in complex with ATP
Magnus Monne et al.
JOURNAL OF BIOENERGETICS AND BIOMEMBRANES (2017)
Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay
Emma S. Reid et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2017)
Single Nucleotide Polymorphisms in SLC19A1 and SLC25A9 Are Associated with Childhood Autism Spectrum Disorder in the Chinese Han Population
Jun Liu et al.
JOURNAL OF MOLECULAR NEUROSCIENCE (2017)
Three mitochondrial transporters of Saccharomyces cerevisiae are essential for ammonium fixation and lysine biosynthesis in synthetic minimal medium
P. Scarcia et al.
MOLECULAR GENETICS AND METABOLISM (2017)
SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families
Monia B. Hammer et al.
NEURODEGENERATIVE DISEASES (2017)
Inhibition of the Mitochondrial Glutamate Carrier SLC25A22 in Astrocytes Leads to Intracellular Glutamate Accumulation
Emmanuelle Goubert et al.
FRONTIERS IN CELLULAR NEUROSCIENCE (2017)
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
Nadja Ehmke et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise
Karin Writzl et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation
Marie-Amelyne Le Rouzic et al.
BLOOD CELLS MOLECULES AND DISEASES (2017)
Thiamine Deficiency in Childhood with Attention to Genetic Causes: Survival and Outcome Predictors
Juan Dario Ortigoza-Escobar et al.
ANNALS OF NEUROLOGY (2017)
A novel mutation in SLC25A46 causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy
R. A. Sulaiman et al.
CLINICAL GENETICS (2017)
Down-regulation of the mitochondria' aspartate-glutamate carrier isoform 1 AGC1 inhibits proliferation and N-acetylaspartate synthesis in Neuro2A cells
Emanuela Profilo et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2017)
Biochemical characterization of a new mitochondrial transporter of dephosphocoenzyme A in Drosophila melanogaster
Angelo Vozza et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2017)
Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans
Hanan E. Shamseldin et al.
HUMAN GENETICS (2016)
Recurrent De Novo Dominant Mutations in SLC2SA4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number
Kyle Thompson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Discoveries, metabolic roles and diseases of mitochondrial carriers: A review
Ferdinando Palmieri et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2016)
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia
Jijun Wan et al.
BRAIN (2016)
SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome
Alexandre Janer et al.
EMBO MOLECULAR MEDICINE (2016)
Characterization of Human and Yeast Mitochondrial Glycine Carriers with Implications for Heme Biosynthesis and Anemia
Paola Lunetti et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2016)
SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance
Manuel Schiff et al.
NEW ENGLAND JOURNAL OF MEDICINE (2016)
Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency
Amanda Smith et al.
JIMD REPORTS, VOL 30 (2016)
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26
Yoshihito Kishita et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
Calcium-induced conformational changes in the regulatory domain of the human mitochondrial ATP-Mg/Pi carrier
Steven P. D. Harborne et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2015)
The ketogenic diet compensates for AGC1 deficiency and improves myelination
Maria Dahlin et al.
EPILEPSIA (2015)
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder
Alexander J. Abrams et al.
NATURE GENETICS (2015)
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Diego Martinelli et al.
ORPHANET JOURNAL OF RARE DISEASES (2015)
The mitochondrial citrate transporter, CIC, is essential for mitochondrial homeostasis.
Olga Catalina-Rodriguez et al.
Oncotarget (2015)
Genetic deletion of the mitochondrial phosphate carrier desensitizes the mitochondrial permeability transition pore and causes cardiomyopathy
J. Q. Kwong et al.
CELL DEATH AND DIFFERENTIATION (2014)
Single-nucleotide evolution quantifies the importance of each site along the structure of mitochondrial carriers
Ciro Leonardo Pierri et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2014)
Mitochondrial transporters of the SLC25 family and associated diseases: a review
Ferdinando Palmieri
JOURNAL OF INHERITED METABOLIC DISEASE (2014)
A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: Functional analysis of the mutant protein
Nagehan Ersoy Tunali et al.
MOLECULAR GENETICS AND METABOLISM (2014)
UCP2 transports C4 metabolites out of mitochondria, regulating glucose and glutamine oxidation
Angelo Vozza et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Structures of yeast mitochondrial ADP/ATP carriers support a domain-based alternating-access transport mechanism
Jonathan J. Ruprecht et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Calcium-induced conformational changes of the regulatory domain of human mitochondrial aspartate/glutamate carriers
Chancievan Thangaratnarajah et al.
NATURE COMMUNICATIONS (2014)
Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2-and L-2-Hydroxyglutaric Aciduria
Benjamin Nota et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Joint Linkage and Association Analysis with Exome Sequence Data Implicates SLC2SA40 in Hypertriglyceridemia
Elisabeth A. Rosenthal et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
SLC25A22 Is a Novel Gene for Migrating Partial Seizures in Infancy
Annapurna Poduri et al.
ANNALS OF NEUROLOGY (2013)
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter
Simon Edvardson et al.
JOURNAL OF MEDICAL GENETICS (2013)
The mitochondrial transporter family SLC25: Identification, properties and physiopathology
Ferdinando Palmieri
MOLECULAR ASPECTS OF MEDICINE (2013)
The substrate specificity of mitochondrial carriers: Mutagenesis revisited
Magnus Monne et al.
MOLECULAR MEMBRANE BIOLOGY (2013)
Identification by site-directed mutagenesis of a hydrophobic binding site of the mitochondrial carnitine/acylcarnitine carrier involved in the interaction with acyl groups
Annamaria Tonazzi et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2012)
Substrate Specificity of the Two Mitochondrial Ornithine Carriers Can Be Swapped by Single Mutation in Substrate Binding Site
Magnus Monne et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2012)
Progress in understanding 2-hydroxyglutaric acidurias
Martijn Kranendijk et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2012)
Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy
Andoni Echaniz-Laguna et al.
JOURNAL OF MEDICAL GENETICS (2012)
The mitochondrial carnitine/acylcarnitine carrier: Function, structure and physiopathology
Cesare Indiveri et al.
MOLECULAR ASPECTS OF MEDICINE (2011)
The Mitochondrial Aspartate/Glutamate Carrier AGC1 and Calcium Homeostasis: Physiological Links and Abnormalities in Autism
Valerio Napolioni et al.
MOLECULAR NEUROBIOLOGY (2011)
Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children
Johannes A. Mayr et al.
NEUROMUSCULAR DISORDERS (2011)
Evolution, structure and function of mitochondrial carriers: a review with new insights
Ferdinando Palmieri et al.
PLANT JOURNAL (2011)
Mitochondrial metabolite transport
Ferdinando Palmieri et al.
ESSAYS IN BIOCHEMISTRY: MITOCHONDRIAL FUNCTION (2010)
SLC25A19 Mutation as a Cause of Neuropathy and Bilateral Striatal Necrosis
Ronen Spiegel et al.
ANNALS OF NEUROLOGY (2009)
Mitochondrial carrier protein biogenesis: role of the chaperones Hsc70 and Hsp90
Vincenzo Zara et al.
BIOCHEMICAL JOURNAL (2009)
Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts
F. Molinari et al.
CLINICAL GENETICS (2009)
Identification of Novel Mutations in the SLC25A15 Gene in Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome: A Clinical, Molecular, and Functional Study
Alessandra Tessa et al.
HUMAN MUTATION (2009)
A Novel Member of Solute Carrier Family 25 (SLC25A42) Is a Transporter of Coenzyme A and Adenosine 3′,5′-Diphosphate in Human Mitochondria
Giuseppe Fiermonte et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia
Duane L. Guernsey et al.
NATURE GENETICS (2009)
AGC1 Deficiency Associated with Global Cerebral Hypomyelination
Rolf Wibom et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
Diseases caused by defects of mitochondrial carriers: A review
Ferdinando Palmieri
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2008)
The ADP and ATP transport in mitochondria and its carrier
Martin Klingenberg
BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES (2008)
α-isopropylmalate, a leucine biosynthesis intermediate in yeast, is transported by the mitochondrial oxalacetate carrier
Carlo M. T. Marobbio et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency
Ayako Tabata et al.
JOURNAL OF HUMAN GENETICS (2008)
Functional characterization of residues within the carnitine/acylcarnitine translocase RX(2)PANAAXF distinct motif
J. Ramon De Lucas et al.
MOLECULAR MEMBRANE BIOLOGY (2008)
Mitochondrial phosphate-carrier deficiency:: A novel disorder of oxidative phosphorylation
Johannes A. Mayr et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Molecular identification of an Arabidopsis S-adenosylmethionine transporter.: Analysis of organ distribution, bacterial expression, reconstitution into liposomes, and functional characterization
Luigi Palmieri et al.
PLANT PHYSIOLOGY (2006)
Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia
Marjorie J. Lindhurst et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome
Jose A. Camacho et al.
PEDIATRIC RESEARCH (2006)
Identification of mitochondrial carriers in Saccharomyces cerevisiae by transport assay of reconstituted recombinant proteins
Ferdinando Palmieri et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2006)
Mitochondrial carriers in the cytoplasmic state have a common substrate binding site
AJ Robinson et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Identification of the mitochondrial NAD+ transporter in Saccharomyces cerevisiae
S Todisco et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency
AN Spaan et al.
MOLECULAR GENETICS AND METABOLISM (2005)
Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy
L Palmieri et al.
HUMAN MOLECULAR GENETICS (2005)
Reduced N-acetylaspartate levels in mice lacking aralar, a brain- and muscle-type mitochondrial aspartate-glutamate carrier
MA Jalil et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy
F Molinari et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
A fourth ADP/ATP carrier isoform in man: identification, bacterial expression, functional characterization and tissue distribution
V Dolce et al.
FEBS LETTERS (2005)
Identification of the human mitochondrial S-adenosylmethionine transporter:: bacterial expression, reconstitution, functional characterization and tissue distribution
G Agrimi et al.
BIOCHEMICAL JOURNAL (2004)
The growing family of mitochondrial carriers in Arabidopsis
N Picault et al.
TRENDS IN PLANT SCIENCE (2004)
The mitochondrial transporter family (SLC25): physiological and pathological implications
F Palmieri
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY (2004)
Identification of the mitochondrial ATP-Mg/Pi transporter -: Bacterial expression, reconstitution, functional characterization, and tissue distribution
G Fiermonte et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Identification of a novel human subfamily of mitochondrial carriers with calcium-binding domains
A del Arco et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency
V Iacobazzi et al.
HUMAN MUTATION (2004)
Identification and functional reconstitution of yeast mitochondrial carrier for S-adenosylmethionine
CMT Marobbio et al.
EMBO JOURNAL (2003)
Structure of mitochondrial ADP/ATP carrier in complex with carboxyatractyloside
E Pebay-Peyroula et al.
NATURE (2003)
Recombinant expression of the Ca2+-sensitive aspartate/glutamate carrier increases mitochondrial ATP production in agonist-stimulated chinese hamster ovary cells
FM Lasorsa et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
The mitochondrial ornithine transporter - Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms
G Fiermonte et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Functional analysis of mutations in the human carnitine/acylcarnitine translocase in Aspergillus nidulans
P Pérez et al.
FUNGAL GENETICS AND BIOLOGY (2003)
Biogenesis of rat mitochondrial citrate carrier (CIC): The N-terminal presequence facilitates the solubility of the preprotein but does not act as a targeting signal
V Zara et al.
JOURNAL OF MOLECULAR BIOLOGY (2003)
Identification and reconstitution of theyeast mitochondrial transporter for thiamine pyrophosphate
CMT Marobbio et al.
EMBO JOURNAL (2002)
Mutant deoxynucleotide carrier is associated with congenital microcephaly
MJ Rosenberg et al.
NATURE GENETICS (2002)
Identification of the mitochondrial glutamate transporter - Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms
G Fiermonte et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)
T Saheki et al.
JOURNAL OF HUMAN GENETICS (2002)
Citrin and aralar1 are Ca2+-stimulated aspartate/glutamate transporters in mitochondria
L Palmieri et al.
EMBO JOURNAL (2001)
A common polymorphism in the promoter of UCP2 is associated with decreased risk of obesity in middle-aged humans
H Esterbauer et al.
NATURE GENETICS (2001)
Identification of the human mitochondrial oxodicarboxylate carrier - Bacterial expression, reconstitution functional characterization, tissue distribution, and chromosomal location
G Fiermonte et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
The human mitochondrial deoxynucleotide carrier and its role in the toxicity of nucleoside antivirals
V Dolce et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)
The yeast mitochondrial carrier Leu5p and its human homologue Graves' disease protein are required for accumulation of coenzyme A in the matrix
C Prohl et al.
MOLECULAR AND CELLULAR BIOLOGY (2001)
Functional analysis of mutant human carnitine acylcarnitine translocases in yeast
L Ijlst et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2001)
Identification in Saccharomyces cerevisiae of two isoforms of a novel mitochondrial transporter for 2-oxoadipate and 2-oxoglutarate
L Palmieri et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Retrovirally mediated complementation of the glyB phenotype -: Cloning of a human gene encoding the carrier for entry of folates into mitochondria
SA Titus et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)
Role of adenine nucleotide translocator 1 in mtDNA maintenance
J Kaukonen et al.
SCIENCE (2000)