Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways.

van Berge, Laura; Kevenaar, Josta; Polder, Emiel; Gaudry, Agnès; Florentz, Catherine; Sissler, Marie; van der Knaap, Marjo S; Scheper, Gert C

van Berge, Laura; Kevenaar, Josta; Polder, Emiel; Gaudry, Agnès; Florentz, Catherine; Sissler, Marie; van der Knaap, Marjo S; Scheper, Gert C.

Affiliation

van Berge L; Department of Child Neurology, VU University Medical Center, De Boelalaan 1117, 1081 HV Amsterdam, The Netherlands. l.vanberge@vumc.nl

Biochem J ; 450(2): 345-50, 2013 Mar 01.

Article in En | MEDLINE | ID: mdl-23216004

Subject(s)

Aspartate-tRNA Ligase/genetics; Aspartate-tRNA Ligase/metabolism; Leukoencephalopathies/genetics; Leukoencephalopathies/metabolism; Mitochondria/enzymology; Mitochondrial Diseases/genetics; Mitochondrial Diseases/metabolism; Mutation, Missense; Aspartate-tRNA Ligase/deficiency; Brain Stem/metabolism; Brain Stem/pathology; HEK293 Cells; Humans; Immunohistochemistry; Leukoencephalopathies/pathology; Mitochondria/metabolism; Mitochondrial Diseases/pathology; Spinal Cord/metabolism; Spinal Cord/pathology; Transfection

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Aspartate-tRNA Ligase / Mutation, Missense / Mitochondrial Diseases / Leukoencephalopathies / Mitochondria Limits: Humans Language: En Journal: Biochem J Year: 2013 Type: Article Affiliation country: Netherlands

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