相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Atomistic and coarse-grained simulations of membrane proteins: A practical guide
Damien Jefferies et al.
METHODS (2021)
Function-related asymmetry of the specific cardiolipin binding sites on the mitochondrial ADP/ATP carrier
Xiaoting Mao et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES (2021)
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant
Sunitha Balaraju et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2020)
Molecular Insights from Conformational Ensembles via Machine Learning
Oliver Fleetwood et al.
BIOPHYSICAL JOURNAL (2020)
Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23
Amna Al-Futaisi et al.
CLINICAL GENETICS (2020)
Effect of Copper on the Mitochondrial Carnitine/Acylcarnitine Carrier Via Interaction with Cys136 and Cys155. Possible Implications in Pathophysiology
Nicola Giangregorio et al.
MOLECULES (2020)
Improved protein structure prediction using potentials from deep learning
Andrew W. Senior et al.
NATURE (2020)
Improved protein structure prediction using predicted interresidue orientations
Jianyi Yang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2020)
Molecular Dynamics Simulations of the Elusive Matrix-open State of Mitochondrial ADP/ATP Carrier
Sanja Skulj et al.
ISRAEL JOURNAL OF CHEMISTRY (2020)
Rethinking Metadynamics: From Bias Potentials to Probability Distributions
Michele Invernizzi et al.
JOURNAL OF PHYSICAL CHEMISTRY LETTERS (2020)
Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review
Ferdinando Palmieri et al.
BIOMOLECULES (2020)
SLC25A51 is a mammalian mitochondrial NAD+ transporter
Timothy S. Luongo et al.
NATURE (2020)
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)
Molecular dynamics simulations on apo ADP/ATP carrier shed new lights on the featured motif of the mitochondrial carriers
Qiuzi Yi et al.
MITOCHONDRION (2019)
H+ transport is an integral function of the mitochondrial ADP/ATP carrier
Ambre M. Bertholet et al.
NATURE (2019)
Promoting transparency and reproducibility in enhanced molecular simulations
Massimiliano Bonomi et al.
NATURE METHODS (2019)
A further leap of improvement in tertiary structure prediction in CASP13 prompts new routes for future assessments
Luciano A. Abriata et al.
PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS (2019)
BCAA catabolism in brown fat controls energy homeostasis through SLC25A44
Takeshi Yoneshiro et al.
NATURE (2019)
Distance-based protein folding powered by deep learning
Jinbo Xu
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2019)
Evaluation of template-based modeling in CASP13
Tristan I. Croll et al.
PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS (2019)
Protein structure prediction using multiple deep neural networks in the 13th Critical Assessment of Protein Structure Prediction (CASP13)
Andrew W. Senior et al.
PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS (2019)
The Molecular Mechanism of Transport by the Mitochondrial ADP/ATP Carrier
Jonathan J. Ruprecht et al.
CELL (2019)
Computational Modeling of Realistic Cell Membranes
Siewert J. Marrink et al.
CHEMICAL REVIEWS (2019)
SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency
Giuseppe Punzi et al.
HUMAN MOLECULAR GENETICS (2018)
The mammalian phosphate carrier SLC25A3 is a mitochondrial copper transporter required for cytochrome c oxidase biogenesis
Aren Boulet et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2018)
Assessment of hard target modeling in CASP12 reveals an emerging role of alignment-based contact prediction methods
Luciano A. Abriata et al.
PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS (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)
Cardiolipin dynamics and binding to conserved residues in the mitochondrial ADP/ATP carrier
Anna L. Duncan et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES (2018)
Conformational landscapes of membrane proteins delineated by enhanced sampling molecular dynamics simulations
Tyler J. Harpole et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES (2018)
Inhibition of mitochondrial UCP1 and UCP3 by purine nucleotides and phosphate
Gabriel Macher et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES (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)
Structure refinement of membrane proteins via molecular dynamics simulations
Bercem Dutagaci et al.
PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS (2018)
Experimental accuracy in protein structure refinement via molecular dynamics simulations
Lim Heo et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)
Atomistic modeling of alternating access of a mitochondrial ADP/ATP membrane transporter with molecular simulations
Koichi Tamura et al.
PLOS ONE (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)
Modelling the free energy profile of the mitochondrial ADP/ATP carrier
Roger Springett et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2017)
Asymmetric dimethylarginine is transported by the mitochondrial carrier SLC25A2
Vito Porcelli et al.
AMINO ACIDS (2016)
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)
Lipid-Loving ANTs: Molecular Simulations of Cardiolipin Interactions and the Organization of the Adenine Nucleotide Translocase in Model Mitochondrial Membranes
George Hedger et al.
BIOCHEMISTRY (2016)
The switching mechanism of the mitochondrial ADP/ATP carrier explored by free-energy landscapes
Adriana Pietropaolo et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (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)
SLC25A46 Mutations Underlie Progressive Myoclonic Ataxia With Optic Atrophy and Neuropathy
Gavin Charlesworth et al.
MOVEMENT DISORDERS (2016)
SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance
Manuel Schiff et al.
NEW ENGLAND JOURNAL OF MEDICINE (2016)
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26
Yoshihito Kishita et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
Trends in Thermostability Provide Information on the Nature of Substrate, Inhibitor, and Lipid Interactions with Mitochondrial Carriers
Paul G. Crichton et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2015)
Linear Response Path Following: A Molecular Dynamics Method To Simulate Global Conformational Changes of Protein upon Ligand Binding
Koichi Tamura et al.
JOURNAL OF CHEMICAL THEORY AND COMPUTATION (2015)
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder
Alexander J. Abrams et al.
NATURE GENETICS (2015)
I-TASSER server: new development for protein structure and function predictions
Jianyi Yang et al.
NUCLEIC ACIDS RESEARCH (2015)
The TOPCONS web server for consensus prediction of membrane protein topology and signal peptides
Konstantinos D. Tsirigos et al.
NUCLEIC ACIDS RESEARCH (2015)
Fatty Acid Flippase Activity of UCP2 Is Essential for Its Proton Transport in Mitochondria
Marcelo J. Berardi et al.
CELL METABOLISM (2014)
PLUMED 2: New feathers for an old bird
Gareth A. Tribello et al.
COMPUTER PHYSICS COMMUNICATIONS (2014)
The Human SLC25A33 and SLC25A36 Genes of Solute Carrier Family 25 Encode Two Mitochondrial Pyrimidine Nucleotide Transporters
Maria Antonietta Di Noia et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2014)
The Human Gene SLC25A29, of Solute Carrier Family 25, Encodes a Mitochondrial Transporter of Basic Amino Acids
Vito Porcelli et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2014)
CHARMM-GUI Membrane Builder Toward Realistic Biological Membrane Simulations
Emilia L. Wu et al.
JOURNAL OF COMPUTATIONAL CHEMISTRY (2014)
Mitochondrial transporters of the SLC25 family and associated diseases: a review
Ferdinando Palmieri
JOURNAL OF INHERITED METABOLIC DISEASE (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)
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)
SLC25A22 Is a Novel Gene for Migrating Partial Seizures in Infancy
Annapurna Poduri et al.
ANNALS OF NEUROLOGY (2013)
Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals
Takao Fukushima et al.
JOURNAL OF HUMAN GENETICS (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)
Dangerous Liaisons between Detergents and Membrane Proteins. The Case of Mitochondrial Uncoupling Protein 2
Manuela Zoonens et al.
JOURNAL OF THE AMERICAN CHEMICAL SOCIETY (2013)
Lipids of mitochondria
Susanne E. Horvath et al.
PROGRESS IN LIPID RESEARCH (2013)
The human gene SLC25A17 encodes a peroxisomal transporter of coenzyme A, FAD and NAD+
Gennaro Agrimi et al.
BIOCHEMICAL JOURNAL (2012)
Toward Understanding the Mechanism of Ion Transport Activity of Neuronal Uncoupling Proteins UCP2, UCP4, and UCP5
Tuan Hoang et al.
BIOCHEMISTRY (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)
Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy
Andoni Echaniz-Laguna et al.
JOURNAL OF MEDICAL GENETICS (2012)
Markov models of molecular kinetics: Generation and validation
Jan-Hendrik Prinz et al.
JOURNAL OF CHEMICAL PHYSICS (2011)
Necrotizing soft tissue infection of the scalp after fronto-facial advancement by internal distraction in a 7-year old girl with Gorlin-Chaudhry-Moss syndrome - A case report
Nicolai Adolphs et al.
JOURNAL OF CRANIO-MAXILLOFACIAL SURGERY (2011)
Mitochondrial uncoupling protein 2 structure determined by NMR molecular fragment searching
Marcelo J. Berardi et al.
NATURE (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)
Protein Thermostability Calculations Using Alchemical Free Energy Simulations
Daniel Seeliger et al.
BIOPHYSICAL JOURNAL (2010)
Fontaine-Farriaux Syndrome: A Recognizable Craniosynostosis Syndrome With Nail, Skeletal, Abdominal, and Central Nervous System Anomalies
Marco Castori et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
SLC25A19 Mutation as a Cause of Neuropathy and Bilateral Striatal Necrosis
Ronen Spiegel et al.
ANNALS OF NEUROLOGY (2009)
Characterization of SCaMC-3-like/slc25a41, a novel calcium-independent mitochondrial ATP-Mg/Pi carrier
Javier Traba et al.
BIOCHEMICAL JOURNAL (2009)
Cardiolipin and mitochondrial carriers
Martin Klingenberg
BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES (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)
HDMCP uncouples yeast mitochondrial respiration and alleviates steatosis in L02 and hepG2 cells by decreasing ATP and H2O2 levels: A novel mechanism for NAFLD
Xi Jin et al.
JOURNAL OF HEPATOLOGY (2009)
Regulation of Mitochondrial Iron Import through Differential Turnover of Mitoferrin 1 and Mitoferrin 2
Prasad N. Paradkar et al.
MOLECULAR AND CELLULAR BIOLOGY (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)
The ADP and ATP transport in mitochondria and its carrier
Martin Klingenberg
BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES (2008)
Adaptive biasing force method for scalar and vector free energy calculations
Eric Darve et al.
JOURNAL OF CHEMICAL PHYSICS (2008)
Binding of ADP in the mitochondrial ADP/ATP carrier is driven by an electrostatic funnel
Francois Dehez et al.
JOURNAL OF THE AMERICAN CHEMICAL SOCIETY (2008)
The evidence that the DNC (SLC25A19) is not the mitochondrial deoxyribonucleotide carrier
Jonghoon Kang et al.
MITOCHONDRION (2008)
An adult with type 2 citrullinemia presenting in Europe
Giuseppe Fiermonte et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
Well-tempered metadynamics: A smoothly converging and tunable free-energy method
Alessandro Barducci et al.
PHYSICAL REVIEW LETTERS (2008)
Electrostatic funneling of substrate in mitochondrial inner membrane carriers
Yi Wang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
The mechanism of transport by mitochondrial carriers based on analysis of symmetry
Alan J. Robinson et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Mitochondrial phosphate-carrier deficiency:: A novel disorder of oxidative phosphorylation
Johannes A. Mayr et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Setting up and running molecular dynamics simulations of membrane proteins
Christian Kandt et al.
METHODS (2007)
Structural dynamics of the mitochondrial ADP/ATP carrier revealed by molecular dynamics simulation studies
M. Falconi et al.
PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS (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)
The conserved substrate binding site of mitochondrial carriers
Edmund R. S. Kunji et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2006)
Efficient reconstruction of complex free energy landscapes by multiple walkers metadynamics
P Raiteri et al.
JOURNAL OF PHYSICAL CHEMISTRY B (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)
Structural basis for lipid-mediated interactions between mitochondrial ADP/ATP carrier monomers
H Nury et al.
FEBS LETTERS (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)
The common-866G/A polymorphism in the promoter region of the UCP-2 gene is associated with reduced risk of type 2 diabetes in Caucasians from Italy
A Bulotta et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (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)
Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation
V Iacobazzi et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Identification of the human mitochondrial S-adenosylmethionine transporter:: bacterial expression, reconstitution, functional characterization and tissue distribution
G Agrimi et al.
BIOCHEMICAL JOURNAL (2004)
A mutation inactivating the mitochondrial inner membrane folate transporter creates a glycine requirement for survival of Chinese hamster cells
EA McCarty et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (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)
UCSF chimera - A visualization system for exploratory research and analysis
EF Pettersen et al.
JOURNAL OF COMPUTATIONAL CHEMISTRY (2004)
Structure of mitochondrial ADP/ATP carrier in complex with carboxyatractyloside
E Pebay-Peyroula et al.
NATURE (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)
A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient
AI Al Aqeel et al.
CLINICAL GENETICS (2003)
Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation
A Tamamori et al.
EUROPEAN JOURNAL OF PEDIATRICS (2002)
Escaping free-energy minima
A Laio et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Mutant deoxynucleotide carrier is associated with congenital microcephaly
MJ Rosenberg et al.
NATURE GENETICS (2002)
Molecular dynamics simulations of biomolecules
M Karplus et al.
NATURE STRUCTURAL BIOLOGY (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)
A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions
H Komaki et al.
ANNALS OF NEUROLOGY (2002)
A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family
L Napoli et al.
NEUROLOGY (2001)
Citrin and aralar1 are Ca2+-stimulated aspartate/glutamate transporters in mitochondria
L Palmieri et al.
EMBO JOURNAL (2001)
Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
S Salvi et al.
NEUROLOGY (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)
Possible clinical and histologic manifestations of adult-onset type II citrullinenia in early infancy
T Tomomasa et al.
JOURNAL OF PEDIATRICS (2001)
Infantile cholestatic jaundice associated with adult-onset type II citrullinemia
Y Tazawa et al.
JOURNAL OF PEDIATRICS (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)
Neonatal presentation of adult-onset type II citrullinemia
T Ohura et al.
HUMAN GENETICS (2001)
Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X
T Miyamoto et al.
JOURNAL OF HUMAN GENETICS (2001)
Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia
T Yasuda et al.
HUMAN GENETICS (2000)
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)
Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency
A Ogawa et al.
JOURNAL OF HUMAN GENETICS (2000)