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Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.
García-Cazorla, Àngels; Verdura, Edgard; Juliá-Palacios, Natalia; Anderson, Eric N; Goicoechea, Leire; Planas-Serra, Laura; Tsogtbaatar, Enkhtuul; Dsouza, Nikita R; Schlüter, Agatha; Urreizti, Roser; Tarnowski, Jessica M; Gavrilova, Ralitza H; Ruiz, Montserrat; Rodríguez-Palmero, Agustí; Fourcade, Stéphane; Cogné, Benjamin; Besnard, Thomas; Vincent, Marie; Bézieau, Stéphane; Folmes, Clifford D; Zimmermann, Michael T; Klee, Eric W; Pandey, Udai Bhan; Artuch, Rafael; Cousin, Margot A; Pujol, Aurora.
Afiliación
  • García-Cazorla À; Neurometabolic 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.
  • Verdura E; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain. agarcia@sjdhospitalbarcelona.org.
  • Juliá-Palacios N; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
  • Anderson EN; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.
  • Goicoechea L; Neurometabolic Unit and Synaptic Metabolism Lab, Neurology Department, Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, 08950, Barcelona, Catalonia, Spain.
  • Planas-Serra L; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
  • Tsogtbaatar E; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, 15224, USA.
  • Dsouza NR; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
  • Schlüter A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.
  • Urreizti R; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
  • Tarnowski JM; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.
  • Gavrilova RH; Department of Cardiovascular Medicine, Mayo Clinic, Scottdale, AZ, 85260, USA.
  • Ruiz M; Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Scottdale, AZ, 85260, USA.
  • Rodríguez-Palmero A; Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.
  • Fourcade S; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
  • Cogné B; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.
  • Besnard T; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
  • Vincent M; Clinical Biochemistry Department, Institut de Recerca Sant Joan de Déu, and MetabERN, 08950, Barcelona, Catalonia, Spain.
  • Bézieau S; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA.
  • Folmes CD; Department of Neurology, Mayo Clinic, Rochester, MN, 55905, USA.
  • Zimmermann MT; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA.
  • Klee EW; Department of Neurology, Mayo Clinic, Rochester, MN, 55905, USA.
  • Artuch R; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
  • Cousin MA; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.
  • Pujol A; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
Acta Neuropathol ; 140(6): 971-975, 2020 12.
Article en En | MEDLINE | ID: mdl-33015733
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Glicina Hidroximetiltransferasa / Encéfalo / Malformaciones del Desarrollo Cortical / Corazón / Mitocondrias Tipo de estudio: Etiology_studies Límite: Female / Humans / Male Idioma: En Revista: Acta Neuropathol Año: 2020 Tipo del documento: Article País de afiliación: España
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Glicina Hidroximetiltransferasa / Encéfalo / Malformaciones del Desarrollo Cortical / Corazón / Mitocondrias Tipo de estudio: Etiology_studies Límite: Female / Humans / Male Idioma: En Revista: Acta Neuropathol Año: 2020 Tipo del documento: Article País de afiliación: España