Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency

Characteristic Analysis of Homo- and Heterodimeric Complexes of Human Mitochondrial Pyruvate Carrier Related to Metabolic Diseases

(2020) Jinyi Lee et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

A Phase 3 Trial of l-Glutamine in Sickle Cell Disease

(2018) Yutaka Niihara et al.   NEW ENGLAND JOURNAL OF MEDICINE

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

The mitochondrial pyruvate carrier in health and disease: To carry or not to carry?

(2016) Tom Bender et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Embryonic Lethality of Mitochondrial Pyruvate Carrier 1 Deficient Mouse Can Be Rescued by a Ketogenic Diet

(2016) Benoît Vanderperre et al.   PLoS Genetics

Mitochondrial pyruvate transport: a historical perspective and future research directions

(2015) Kyle S. McCommis et al.   BIOCHEMICAL JOURNAL

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

(2015) Yongwook Choi et al.   BIOINFORMATICS

Loss of Mitochondrial Pyruvate Carrier 2 in the Liver Leads to Defects in Gluconeogenesis and Compensation via Pyruvate-Alanine Cycling

(2015) Kyle S. McCommis et al.   Cell Metabolism

Mitochondrial pyruvate import and its effects on homeostasis

(2015) Benoît Vanderperre et al.   CURRENT OPINION IN CELL BIOLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Mitochondria: The ketogenic diet—A metabolism-based therapy

(2015) Silvia Vidali et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

The ketogenic diet component decanoic acid increases mitochondrial citrate synthase and complex I activity in neuronal cells

(2014) Sean David Hughes et al.   JOURNAL OF NEUROCHEMISTRY

Glutamine Oxidation Maintains the TCA Cycle and Cell Survival during Impaired Mitochondrial Pyruvate Transport

(2014) Chendong Yang et al.   MOLECULAR CELL

Regulation of Substrate Utilization by the Mitochondrial Pyruvate Carrier

(2014) Nathaniel M. Vacanti et al.   MOLECULAR CELL

A guide to diagnosis and treatment of Leigh syndrome

(2013) F. Baertling et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Genome-Scale CRISPR-Cas9 Knockout Screening in Human Cells

(2013) Ophir Shalem et al.   SCIENCE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Identification and Functional Expression of the Mitochondrial Pyruvate Carrier

(2012) S. Herzig et al.   SCIENCE

A Mitochondrial Pyruvate Carrier Required for Pyruvate Uptake in Yeast, Drosophila, and Humans

(2012) D. K. Bricker et al.   SCIENCE

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Enzymatic assembly of DNA molecules up to several hundred kilobases

(2009) Daniel G Gibson et al.   NATURE METHODS