Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1862, Issue 4, 2016, Pages 592-600

  Oyarzabal, A ^a   Bravo Alonso, I ^a   Sanchez Arago M ^a   Rejas, M T ^b   Merinero, B ^a   Garcia Cazorla A ^c   Artuch, R ^c   Ugarte, M ^a   Rodriguez Pombo P ^a  

^a INSTITUTO DE SALUD CARLOS III   (Spain)

^b UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^c HOSPITAL SANT JOAN DE DÉU   (Spain)

Author keywords

Autism; BCKDK deficiency; Bioenergetics profile; Mitochondrial disease; Mitochondrial elongation; Unrestrained branched chain amino acids catabolism

Indexed keywords

2 OXOISOVALERATE DEHYDROGENASE (LIPOAMIDE); ADENOSINE TRIPHOSPHATE; BRANCHED CHAIN AMINO ACID; GUANOSINE TRIPHOSPHATASE; MITOFUSIN 2; SUPEROXIDE;

ARTICLE; AUTISM; BCKDK GENE; BIOENERGY; CATABOLISM; CELL CYCLE G0 PHASE; CELL CYCLE G1 PHASE; CELL CYCLE G2 PHASE; CELL CYCLE M PHASE; CELL CYCLE PROGRESSION; CELL FATE; CONCENTRATION (PARAMETERS); CONTROLLED STUDY; DIET; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENERGY EXPENDITURE; ENZYME DEFICIENCY; FIBROBLAST; GENE; GENE SILENCING; HUMAN; HUMAN CELL; INTRACELLULAR SPACE; MITOCHONDRIAL DYNAMICS; MITOCHONDRIAL MEMBRANE; OXIDATIVE STRESS; OXYGEN CONSUMPTION; PRIORITY JOURNAL; ULTRASTRUCTURE;

EID: 84958281100     PISSN: 09254439     EISSN: 1879260X     Source Type: Journal    
DOI: 10.1016/j.bbadis.2016.01.016     Document Type: Article

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