ArticleActa neuropathologica2020
Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.
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Article in Acta neuropathologica, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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24citing papers in PubMed
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Who cites it
24 citing papers in PubMed.
- Cardiac regeneration and repair: the emerging mechanisms and therapeutic approaches.Molecular biomedicine · 2026Review
- SHMT2 deficiency disrupts transcriptional regulation through homocysteine-mediated suppression of histone lactylation in Huntington's disease models.The Journal of clinical investigation · 2026Article
- Serine Hydroxymethyltransferase (SHMT) in biology and disease: molecular mechanisms and therapeutic targeting.Journal of translational medicine · 2026Review
- De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.American journal of human genetics · 2026Article
- A systems genetics approach to uncover mitochondrial drivers of heart failure reveals mitochondria-nuclear cross talk in genetically diverse mouse strains.bioRxiv : the preprint server for biology · 2025Article
- Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.American journal of human genetics · 2025Article
- Multifaceted role of serine hydroxymethyltransferase in health and disease.Molecules and cells · 2025Review
- SHMT2 overexpression improves glaucoma by enhancing mitophagy in retinal ganglion cells through promoting the phospho of PINK1.Diagnostic pathology · 2025Article
- Changes in the Proteomic Profile After Audiogenic Kindling in the Inferior Colliculus of the GASH/Sal Model of Epilepsy.International journal of molecular sciences · 2025Article
- Mild neurodevelopmental disorder due to reduced SHMT2 enzymatic activity caused by novel compound heterozygous variants: expanding the phenotypic spectrum.Neurogenetics · 2024Article
- Identifying potential dietary treatments for inherited metabolic disorders using Drosophila nutrigenomics.Cell reports · 2024Article
- SHMT2 Mediates Small-Molecule-Induced Alleviation of Alzheimer Pathology Via the 5'UTR-dependent ADAM10 Translation Initiation.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.Brain communications · 2024Article
- MiR-383-5p inhibits the proliferation and migration of lung adenocarcinoma cells by targeting SHMT2.Journal of Cancer · 2024Article
- ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.Genome medicine · 2023Article
- Impairments in SHMT2 expression or cellular folate availability reduce oxidative phosphorylation and pyruvate kinase activity.Genes & nutrition · 2023Article
- SHMT2 Induces Stemness and Progression of Head and Neck Cancer.International journal of molecular sciences · 2022Article
- The role of SHMT2 in modulating lipid metabolism in hepatocytes via glycine-mediated mTOR activation.Amino acids · 2022Article
- Spike S1 domain interactome in non-pulmonary systems: A role beyond the receptor recognition.Frontiers in molecular biosciences · 2022Article
- Knockdown of SHMT2 enhances the sensitivity of gastric cancer cells to radiotherapy through the Wnt/β-catenin pathway.Open life sciences · 2022Article
Corrections and comments
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Authors and funding
27 authors.
Àngels García-CazorlaNeurometabolic Unit and Synaptic Metabolism Lab, Neurology Department, Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, 08950, Barcelona, Catalonia, Spain. agarcia@sjdhospitalbarcelona.org.
Edgard VerduraCentre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
Natalia Juliá-PalaciosNeurometabolic Unit and Synaptic Metabolism Lab, Neurology Department, Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, 08950, Barcelona, Catalonia, Spain.
Eric N AndersonDepartment of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, 15224, USA.
Leire GoicoecheaCentre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
Laura Planas-SerraCentre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
Enkhtuul TsogtbaatarDepartment of Cardiovascular Medicine, Mayo Clinic, Scottdale, AZ, 85260, USA.
Nikita R DsouzaBioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.
Agatha SchlüterCentre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
Roser UrreiztiCentre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
Jessica M TarnowskiDepartment of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA.
Ralitza H GavrilovaDepartment of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA.
SHMT2 Working Group
Montserrat RuizCentre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
Agustí Rodríguez-PalmeroCentre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
Stéphane FourcadeCentre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
Benjamin CognéService de Génétique Médicale, CHU de Nantes, and INSERM, CNRS, Université de Nantes, l'Institut du Thorax, Nantes, 44000, Nantes, Pays de la Loire, France.
Thomas BesnardService de Génétique Médicale, CHU de Nantes, and INSERM, CNRS, Université de Nantes, l'Institut du Thorax, Nantes, 44000, Nantes, Pays de la Loire, France.
Marie VincentService de Génétique Médicale, CHU de Nantes, and INSERM, CNRS, Université de Nantes, l'Institut du Thorax, Nantes, 44000, Nantes, Pays de la Loire, France.
Stéphane BézieauService de Génétique Médicale, CHU de Nantes, and INSERM, CNRS, Université de Nantes, l'Institut du Thorax, Nantes, 44000, Nantes, Pays de la Loire, France.
Clifford D FolmesDepartment of Cardiovascular Medicine, Mayo Clinic, Scottdale, AZ, 85260, USA.
Michael T ZimmermannBioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.
Eric W KleeDepartment of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA.
Udai Bhan PandeyDepartment of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, 15224, USA.
Rafael ArtuchCentre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
Margot A CousinCenter for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA.
Aurora PujolCentre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain. apujol@idibell.cat.ORCID 0000-0002-9606-0600
Funding
Training in the Neurobiology of Neurological DiseaseT32NS086749 · NINDS · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI Omar El Gharbawie, REBECCA P SEAL · 2014 to 2026
$4.8MMetabolic reprogramming in pluripotent induction and cardiac lineage specificatioR00HL121079 · NHLBI · MAYO CLINIC ARIZONA · PI FOLMES, CLIFFORD D · 2017 to 2019
$747kMetabolic reprogramming in pluripotent induction and cardiac lineage specificatioK99HL121079 · NHLBI · MAYO CLINIC ROCHESTER · PI FOLMES, CLIFFORD D · 2014 to 2015
$279kNHLBI NIH HHS K99 HL121079NHLBI NIH HHS R00 HL121079NINDS NIH HHS T32 NS086749
Abstract
PubMed holds no abstract for this paper.
Indexed as
BrainCarbonFemaleGlycine HydroxymethyltransferaseHeartHumansMagnetic Resonance ImagingMaleMalformations of Cortical DevelopmentMitochondriaSyndromeCarbonGlycine HydroxymethyltransferaseSHMT protein, humanCardiomyopathyCongenital microcephalyMitochondrial one-carbon metabolismPerisylvian polymicrogyriaSHMT2
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.