Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review

Strategies for fighting mitochondrial diseases

(2020) Carlo Viscomi et al.   JOURNAL OF INTERNAL MEDICINE

Mitochondrial functions and rare diseases

(2020) L. Dard et al.   MOLECULAR ASPECTS OF MEDICINE

The Molecular Mechanism of Transport by the Mitochondrial ADP/ATP Carrier

(2019) Jonathan J. Ruprecht et al.   CELL

Urea cycle disorders—update

(2019) Shirou Matsumoto et al.   JOURNAL OF HUMAN GENETICS

The human uncoupling proteins 5 and 6 (UCP5/SLC25A14 and UCP6/SLC25A30) transport sulfur oxyanions, phosphate and dicarboxylates

(2019) Ruggiero Gorgoglione et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group

(2019) Camille Lemattre et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2019) Vykuntaraju K. Gowda et al.   NEUROPEDIATRICS

Mitochondrial Carriers for Aspartate, Glutamate and Other Amino Acids: A Review

(2019) Magnus Monné et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Deficiency of Mitochondrial Aspartate-Glutamate Carrier 1 Leads to Oligodendrocyte Precursor Cell Proliferation Defects Both In Vitro and In Vivo

(2019) Sabrina Petralla et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4

(2019) Roberta Bottega et al.   JOURNAL OF HUMAN GENETICS

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

(2019) Jaehui Ryu et al.   BMC Medical Genetics

Expanding Phenotypic Spectrum of Cerebral Aspartate–Glutamate Carrier Isoform 1 (AGC1) Deficiency

(2019) Brian Pfeiffer et al.   NEUROPEDIATRICS

Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13

(2019) Melis Demir Köse et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis

(2018) Homa Majd et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate CarrierSLC25A11Gene Confer a Predisposition to Metastatic Paragangliomas

(2018) Alexandre Buffet et al.   CANCER RESEARCH

Expanding the phenotype of SLC25A42 -associated mitochondrial encephalomyopathy

(2018) M. Almannai et al.   CLINICAL GENETICS

Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease

(2018) Veronika Boczonadi et al.   GENETICS IN MEDICINE

Nuclear genes involved in mitochondrial diseases caused by instability of mitochondrial DNA

(2018) Joanna Rusecka et al.   JOURNAL OF APPLIED GENETICS

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

(2018) Kiyoshi Hayasaka et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mitochondrial medicine in the omics era

(2018) Joyeeta Rahman et al.   LANCET

Two new cases of mitochondrial myopathy with exercise intolerance, hyperlactatemia and cardiomyopathy, caused by recessive SLC25A4 mutations

(2018) Anouk Tosserams et al.   MITOCHONDRION

Formate rescues neural tube defects caused by mutations inSlc25a32

(2018) Jimi Kim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mitochondrial disease genetics update

(2018) Elizabeth M. McCormick et al.   CURRENT OPINION IN PEDIATRICS

Insights into the genotype-phenotype correlation and molecular function of SLC25A46

(2018) Alexander J. Abrams et al.   HUMAN MUTATION

Mitochondrial genetic medicine

(2018) Douglas C. Wallace   NATURE GENETICS

Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype

(2017) Debby M E I Hellebrekers et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency

(2017) Giuseppe Punzi et al.   HUMAN MOLECULAR GENETICS

Mitochondrial ATP-Mg/phosphate carriers transport divalent inorganic cations in complex with ATP

(2017) Magnus Monné et al.   JOURNAL OF BIOENERGETICS AND BIOMEMBRANES

Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay

(2017) Emma S. Reid et al.   JOURNAL OF INHERITED METABOLIC DISEASE

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants

(2017) Ana Pop et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Single Nucleotide Polymorphisms in SLC19A1 and SLC25A9 Are Associated with Childhood Autism Spectrum Disorder in the Chinese Han Population

(2017) Jun Liu et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Three mitochondrial transporters of Saccharomyces cerevisiae are essential for ammonium fixation and lysine biosynthesis in synthetic minimal medium

(2017) P. Scarcia et al.   MOLECULAR GENETICS AND METABOLISM

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families

(2017) Monia B. Hammer et al.   Neurodegenerative Diseases

Inhibition of the Mitochondrial Glutamate Carrier SLC25A22 in Astrocytes Leads to Intracellular Glutamate Accumulation

(2017) Emmanuelle Goubert et al.   Frontiers in Cellular Neuroscience

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

(2016) Kyle Thompson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Discoveries, metabolic roles and diseases of mitochondrial carriers: A review

(2016) Ferdinando Palmieri et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia

(2016) Jijun Wan et al.   BRAIN

Novel pathogenicSLC25A46splice-site mutation causes an optic atrophy spectrum disorder

(2016) M. Nguyen et al.   CLINICAL GENETICS

SLC25A46is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome

(2016) Alexandre Janer et al.   EMBO Molecular Medicine

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

(2016) Yosra Trabelsi et al.   GLIA

Characterization of Human and Yeast Mitochondrial Glycine Carriers with Implications for Heme Biosynthesis and Anemia

(2016) Paola Lunetti et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2 (UCP2)

(2016) Christine T. Ferrara et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

(2016) Manuel Schiff et al.   NEW ENGLAND JOURNAL OF MEDICINE

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26

(2015) Yoshihito Kishita et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Calcium-induced conformational changes in the regulatory domain of the human mitochondrial ATP-Mg/Pi carrier

(2015) Steven P.D. Harborne et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

The ketogenic diet compensates for AGC1 deficiency and improves myelination

(2015) Maria Dahlin et al.   EPILEPSIA

Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans

(2015) Hanan E. Shamseldin et al.   HUMAN GENETICS

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

(2015) Alexander J Abrams et al.   NATURE GENETICS

The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome

(2015) Diego Martinelli et al.   Orphanet Journal of Rare Diseases

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

(2015) Olga Catalina-Rodriguez et al.   Oncotarget

Genetic deletion of the mitochondrial phosphate carrier desensitizes the mitochondrial permeability transition pore and causes cardiomyopathy

(2014) J Q Kwong et al.   CELL DEATH AND DIFFERENTIATION

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

(2014) Ferdinando Palmieri   JOURNAL OF INHERITED METABOLIC DISEASE

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

(2014) Nagehan Ersoy Tunalı et al.   MOLECULAR GENETICS AND METABOLISM

UCP2 transports C4 metabolites out of mitochondria, regulating glucose and glutamine oxidation

(2014) A. Vozza et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2014) J. J. Ruprecht et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Calcium-induced conformational changes of the regulatory domain of human mitochondrial aspartate/glutamate carriers

(2014) Chancievan Thangaratnarajah et al.   Nature Communications

Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria

(2013) Benjamin Nota et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Joint Linkage and Association Analysis with Exome Sequence Data Implicates SLC25A40 in Hypertriglyceridemia

(2013) Elisabeth A. Rosenthal et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SLC25A22is a novel gene for migrating partial seizures in infancy

(2013) Annapurna Poduri et al.   ANNALS OF NEUROLOGY

Single-nucleotide evolution quantifies the importance of each site along the structure of mitochondrial carriers

(2013) Ciro Leonardo Pierri et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Agenesis of corpus callosum and optic nerve hypoplasia due to mutations inSLC25A1encoding the mitochondrial citrate transporter

(2013) Simon Edvardson et al.   JOURNAL OF MEDICAL GENETICS

Identification by site-directed mutagenesis of a hydrophobic binding site of the mitochondrial carnitine/acylcarnitine carrier involved in the interaction with acyl groups

(2012) Annamaria Tonazzi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Substrate Specificity of the Two Mitochondrial Ornithine Carriers Can Be Swapped by Single Mutation in Substrate Binding Site

(2012) Magnus Monné et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Progress in understanding 2-hydroxyglutaric acidurias

(2012) Martijn Kranendijk et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The mitochondrial transporter family SLC25: Identification, properties and physiopathology

(2012) Ferdinando Palmieri   MOLECULAR ASPECTS OF MEDICINE

The substrate specificity of mitochondrial carriers: Mutagenesis revisited

(2012) Magnus Monné et al.   MOLECULAR MEMBRANE BIOLOGY

Complete loss of expression of theANT1gene causing cardiomyopathy and myopathy

(2011) Andoni Echaniz-Laguna et al.   JOURNAL OF MEDICAL GENETICS

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

(2011) Cesare Indiveri et al.   MOLECULAR ASPECTS OF MEDICINE

The Mitochondrial Aspartate/Glutamate Carrier AGC1 and Calcium Homeostasis: Physiological Links and Abnormalities in Autism

(2011) Valerio Napolioni et al.   MOLECULAR NEUROBIOLOGY

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

(2011) Johannes A. Mayr et al.   NEUROMUSCULAR DISORDERS

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

(2011) Ferdinando Palmieri et al.   PLANT JOURNAL

Mitochondrial metabolite transport

(2010) Ferdinando Palmieri et al.   Essays in Biochemistry

SLC25A19mutation as a cause of neuropathy and bilateral striatal necrosis

(2009) Ronen Spiegel et al.   ANNALS OF NEUROLOGY

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

(2009) Vincenzo Zara et al.   BIOCHEMICAL JOURNAL

Mutations in the mitochondrial glutamate carrierSLC25A22in neonatal epileptic encephalopathy with suppression bursts

(2009) F Molinari et al.   CLINICAL GENETICS

Identification of novel mutations in theSLC25A15gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study

(2009) Alessandra Tessa et al.   HUMAN MUTATION

A Novel Member of Solute Carrier Family 25 (SLC25A42) Is a Transporter of Coenzyme A and Adenosine 3′,5′-Diphosphate in Human Mitochondria

(2009) Giuseppe Fiermonte et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2009) Duane L Guernsey et al.   NATURE GENETICS

AGC1 Deficiency Associated with Global Cerebral Hypomyelination

(2009) Rolf Wibom et al.   NEW ENGLAND JOURNAL OF MEDICINE

Diseases caused by defects of mitochondrial carriers: A review

(2008) Ferdinando Palmieri   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

The ADP and ATP transport in mitochondria and its carrier

(2008) Martin Klingenberg   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

α-Isopropylmalate, a Leucine Biosynthesis Intermediate in Yeast, Is Transported by the Mitochondrial Oxalacetate Carrier

(2008) Carlo M. T. Marobbio et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency

(2008) Ayako Tabata et al.   JOURNAL OF HUMAN GENETICS

Functional characterization of residues within the carnitine/acylcarnitine translocase RX2PANAAXF distinct motif

(2008) J. Ramon De Lucas et al.   MOLECULAR MEMBRANE BIOLOGY