Reduced Shmt2 Expression Impairs Mitochondrial Folate Accumulation and Respiration, and Leads to Uracil Accumulation in Mouse Mitochondrial DNA

p53 Disruption Increases Uracil Accumulation in DNA of Murine Embryonic Fibroblasts and Leads to Folic Acid–Nonresponsive Neural Tube Defects in Mice

(2020) Erica R Lachenauer et al.   JOURNAL OF NUTRITION

Defective NADPH production in mitochondrial disease complex I causes inflammation and cell death

(2020) Eduardo Balsa et al.   Nature Communications

Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

(2020) Àngels García-Cazorla et al.   ACTA NEUROPATHOLOGICA

Serine Catabolism by SHMT2 Is Required for Proper Mitochondrial Translation Initiation and Maintenance of Formylmethionyl-tRNAs

(2018) Denise R. Minton et al.   MOLECULAR CELL

Genome-wide mapping reveals that deoxyuridine is enriched in the human centromeric DNA

(2018) Xiaoting Shu et al.   Nature Chemical Biology

Mice deficient in the Shmt2 gene have mitochondrial respiration defects and are embryonic lethal

(2018) Haruna Tani et al.   Scientific Reports

Nuclear Folate Metabolism

(2018) Martha S. Field et al.   Annual Review of Nutrition

Mitochondrial translation requires folate-dependent tRNA methylation

(2018) Raphael J. Morscher et al.   NATURE

The mitochondrial inner membrane protein MPV17 prevents uracil accumulation in mitochondrial DNA

(2018) Judith R. Alonzo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Arsenic trioxide targets MTHFD1 and SUMO-dependent nuclear de novo thymidylate biosynthesis

(2017) Elena Kamynina et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Accurate quantification of mouse mitochondrial DNA without co-amplification of nuclear mitochondrial insertion sequences

(2016) Afshan N. Malik et al.   MITOCHONDRION

Maternal dietary uridine causes, and deoxyuridine prevents, neural tube closure defects in a mouse model of folate-responsive neural tube defects

(2015) Lucia Martiniova et al.   AMERICAN JOURNAL OF CLINICAL NUTRITION

Epigenetic regulation of the nuclear-coded GCAT and SHMT2 genes confers human age-associated mitochondrial respiration defects

(2015) Osamu Hashizume et al.   Scientific Reports

An isotope-dilution, GC–MS assay for formate and its application to human and animal metabolism

(2014) Simon G. Lamarre et al.   AMINO ACIDS

Nuclear Enrichment of Folate Cofactors and Methylenetetrahydrofolate Dehydrogenase 1 (MTHFD1) Protectde NovoThymidylate Biosynthesis during Folate Deficiency

(2014) Martha S. Field et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Serine Hydroxymethyltransferase Anchorsde NovoThymidylate Synthesis Pathway to Nuclear Lamina for DNA Synthesis

(2012) Donald D. Anderson et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Dietary folate, but not choline, modifies neural tube defect risk in Shmt1 knockout mice

(2011) Anna E Beaudin et al.   AMERICAN JOURNAL OF CLINICAL NUTRITION

Nuclear Localization ofde NovoThymidylate Biosynthesis Pathway Is Required to Prevent Uracil Accumulation in DNA

(2011) Amanda J. MacFarlane et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Identification of a de novo thymidylate biosynthesis pathway in mammalian mitochondria

(2011) D. D. Anderson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Limited dCTP Availability Accounts for Mitochondrial DNA Depletion in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)

(2011) Emiliano González-Vioque et al.   PLoS Genetics

Compartmentalization of Mammalian Folate-Mediated One-Carbon Metabolism

(2010) Anne S. Tibbetts et al.   Annual Review of Nutrition

A one-step method for quantitative determination of uracil in DNA by real-time PCR

(2010) András Horváth et al.   NUCLEIC ACIDS RESEARCH

Number matters: control of mammalian mitochondrial DNA copy number

(2009) Laura L. Clay Montier et al.   Journal of Genetics and Genomics

Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice

(2008) Luis C. López et al.   HUMAN MOLECULAR GENETICS

Cytoplasmic Serine Hydroxymethyltransferase Regulates the Metabolic Partitioning of Methylenetetrahydrofolate but Is Not Essential in Mice

(2008) Amanda J. MacFarlane et al.   JOURNAL OF BIOLOGICAL CHEMISTRY