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Biology and Biochemistry

D-Index
61
Citations
12486
World Ranking
11414
National Ranking
219

Overview

Rafael Artuch is affiliated with the Instituto de Salud Carlos III in Spain. Their research spans biochemistry, genetics, and molecular biology, with a significant output in medicine. The scientist has contributed extensively to subfields such as molecular biology, genetics, clinical biochemistry, physiology, and biochemistry.

Their work addresses several key topics including metabolism and genetic disorders, mitochondrial function and pathology, amino acid enzymes and metabolism, genomics and rare diseases, genetics and neurodevelopmental disorders, RNA modifications and cancer, and coenzyme Q10 studies and effects.

Rafael Artuch has published in various journals, with frequent contributions to the Journal of Inherited Metabolic Disease, bioRxiv (Cold Spring Harbor Laboratory), Orphanet Journal of Rare Diseases, Antioxidants, and Clinical Chemistry.

Several recent papers illustrate the range of their research interests and contributions:

  • Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies (2020, Orphanet Journal of Rare Diseases)
  • CSVS, a crowdsourcing database of the Spanish population genetic variability (2020, Nucleic Acids Research)
  • Generation of mitochondrial reactive oxygen species is controlled by ATPase inhibitory factor 1 and regulates cognition (2021, PLoS Biology)
  • Annexin A6 Is Critical to Maintain Glucose Homeostasis and Survival During Liver Regeneration in Mice (2020, Hepatology)
  • Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome (2020, Acta Neuropathologica)

The scientist collaborates frequently with other researchers, including:

  • Àngels García-Cazorla
  • Abraham J. Paredes-Fuentes
  • Aída Ormazábal
  • Clara Oliva
  • Antònia Ribes

Best Publications

  • Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

    Gillian Rice;Teresa Patrick;Rekha Parmar;Claire F Taylor

  • Coenzyme Q deficiency triggers mitochondria degradation by mitophagy.

    Ángeles Rodríguez-Hernández;Mario D. Cordero;Leonardo Salviati;Rafael Artuch

  • Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

    Tessa Wassenberg;Marta Molero-Luis;Kathrin Jeltsch;Georg F. Hoffmann

  • Total Homocysteine in Pediatric Patients

    M. Antonia Vilaseca;Dolores Moyano;Imma Ferrer;Rafael Artuch

  • An international classification of inherited metabolic disorders (ICIMD).

    Carlos R Ferreira;Shamima Rahman;Shamima Rahman;Markus Keller;Johannes Zschocke

  • GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction.

    Raquel Montero;Delia Yubero;Delia Yubero;Joan Villarroya;Desiree Henares

  • HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins.

    Aida Ormazabal;Angels García-Cazorla;Yolanda Fernández;Emilio Fernández-Álvarez

  • Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies

    Susana Graciela Kalko;Sonia Paco;Cristina Jou;Maria Angels Rodríguez

  • Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion.

    Merce Pineda;Aida Ormazabal;Esther López-Gallardo;Andres Nascimento

  • Idebenone treatment in paediatric and adult patients with Friedreich ataxia: long-term follow-up.

    Mercè Pineda;Javier Arpa;Raquel Montero;Asunción Aracil

  • Hyperlactatemia in Human Immunodeficiency Virus–Uninfected Infants Who Are Exposed to Antiretrovirals

    Antoni Noguera;Claudia Fortuny;Carmen Muñoz-Almagro;Emilia Sanchez

  • Cerebellar ataxia with coenzyme Q10 deficiency: diagnosis and follow-up after coenzyme Q10 supplementation.

    Rafael Artuch;Gloria Brea-Calvo;Paz Briones;Asunción Aracil

  • Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency

    Leonardo Salviati;Eva Trevisson;Maria Angeles Rodriguez Hernandez;Alberto Casarin

  • Children with stroke: polymorphism of the MTHFR gene, mild hyperhomocysteinemia, and vitamin status.

    E Cardo;E Monrós;C Colomé;R Artuch

  • Development of the serotonergic cells in murine raphe nuclei and their relations with rhombomeric domains.

    Antonia Alonso;Paloma Merchán;Juan E. Sandoval;Luisa Sánchez-Arrones

  • Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy

    Nilo Lambruschini;Belén Pérez-Dueñas;Maria Antonia Vilaseca;Anna Mas

  • MITOCHONDRIAL DISEASES ASSOCIATED WITH CEREBRAL FOLATE DEFICIENCY

    A. Garcia-Cazorla;E. V. Quadros;A. Nascimento;M. T. Garcia-Silva

  • Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.

    Thomas Opladen;Eduardo López-Laso;Elisenda Cortès-Saladelafont;Toni S. Pearson

  • X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism.

    P. Póo-Argüelles;A. Arias;M. A. Vilaseca;A. Ribes

  • International Society for Pediatric and Adolescent Diabetes

    C.E. Brain;M. Hubbard;M.A. Preece;M.O. Savage

Frequent Co-Authors

Julio Montoya
Julio Montoya University of Zaragoza
Eduardo Ruiz-Pesini
Eduardo Ruiz-Pesini University of Zaragoza
Plácido Navas
Plácido Navas Pablo de Olavide University
Leonardo Salviati
Leonardo Salviati University of Padua
Simon J. R. Heales
Simon J. R. Heales University College London
Iain P. Hargreaves
Iain P. Hargreaves Liverpool John Moores University
Manju A. Kurian
Manju A. Kurian University College London
Aurora Pujol
Aurora Pujol Institut d'Investigació Biomédica de Bellvitge
Nenad Blau
Nenad Blau University of Zurich
Michio Hirano
Michio Hirano Columbia University

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