Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
- Auteur
- SCHEPER, Gert C1 ; VAN DER KLOK, Thom1 ; SCHIFFMANN, Raphael7 ; KRÄGELOH-MANN, Ingeborg8 ; SMEITINK, Jan A. M9 ; FLORENTZ, Catherine2 ; VAN COSTER, Rudy3 ; PRONK, Jan C10 ; VAN DER KNAAP, Marjo S1 ; VAN ANDEL, Rob J1 ; VAN BERKEL, Carola G. M1 ; SISSLER, Marie2 ; SMET, Joél3 ; MURAVINA, Tatjana I4 ; SERKOV, Sergey V5 ; UZIEL, Graziella6 ; BUGIANI, Marianna6
[1] Department of Pediatrics and Child Neurology, Vrije University Medical Center, 1081 HV Amsterdam, Netherlands
[2] Institut de Biologie Moléculaire et Cellulaire du Centre National de la Recherche Scientifique (CNRS), Université Louis Pasteur, 67084 Strasbourg, France
[3] Department of Pediatrics, Division of Neurology and Metabolism, University Hospital, 9000 Gent, Belgium
[4] Institute of Neurology, Burdenko Neurosurgery Institute, Russian Academy of Medical Sciences, Moscow, Russian Federation
[5] Department of Neuroimaging, Burdenko Neurosurgery Institute, Russian Academy of Medical Sciences, Moscow, Russian Federation
[6] Child Neurology Department, Istituto Nazionale Neurologico C. Besta, 20133 Milan, Italy
[7] Developmental and Metabolic Neurology Branch, National Institute for Neurological Disorders and Stroke, US National Institutes of Health, Bethesda, Maryland 20892, United States
[8] Department of Pediatric Neurology, University Children's Hospital, 72076 Tübingen, Germany
[9] Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen Center for Mitochondrial Disorders, 6500 HB Nijmegen, Netherlands
[10] Department of Human Genetics, Vrije University Medical Center, 1081 BT Amsterdam, Netherlands - Source
Nature genetics. 2007, Vol 39, Num 4, pp 534-539, 6 p ; ref : 30 ref
- Editeur
- Nature Publishing Group, London
- Pays de publication
- United Kingdom
- Type de document
- Article
- Langue
- Russian
- Mot clé (fr)
- Aspartate-tRNA ligase Déficit Lactate Leucoencéphalopathie Mitochondrie Moelle épinière Tronc cérébral Carbon-oxygen ligases Encéphale Enzyme Ligases Système nerveux central
- Mot clé (en)
- Aspartate-tRNA ligase Deficiency Lactates Leucoencephalopathy Mitochondria Spinal cord Brain stem Carbon-oxygen ligases Encephalon Enzyme Ligases Central nervous system
- Mot clé (es)
- Aspartate-tRNA ligase Déficiencia Lactato Leucoencefalopatía Mitocondria Médula espinal Tronco cerebral Carbon-oxygen ligases Encéfalo Enzima Ligases Sistema nervioso central
- Classification
- Pascal
- 002 Sciences biologiques et medicales / 002A Sciences biologiques fondamentales et appliquees. Psychologie / 002A07 Genetique des eucaryotes. Evolution biologique et moleculaire
- Discipline
- Eukaryotes genetics. Biological and molecular evolution
- Provenance
- Inist-CNRS
- Base de données
- PASCAL
- Identifiant INIST
- 18673214
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1038/ng2013 
https://dx.doi.org/10.1038/ng2013
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