Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes

Human molecular genetics

Volumn 23, Issue 7, 2014, Pages 1907-1915

  Tort, Frederic ^a   Ferrer Cortès, Xènia ^a   Thió, Marta ^a   Navarro Sastre, Aleix ^a   Matalonga, Leslie ^a   Quintana, Ester ^a   Bujan, Núria ^a   Arias, Angela ^a   García Villoria, Judit ^a   Acquaviva, Cecile ^a   Vianey Saban, Christine ^a   Artuch, Rafael ^a   García Cazorla, Àngels ^a   Briones, Paz ^a   Ribes, Antonia ^a  

^a HOSPITAL CLÍNIC   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

2 OXOGLUTARIC ACID; ACYLTRANSFERASE; ALPHA-KETOGLUTARIC ACID; LIPOYLTRANSFERASE I; LYASE; OXOGLUTARATE DEHYDROGENASE; PYRUVATE DEHYDROGENASE COMPLEX; THIOCTIC ACID;

ANIMAL; CASE REPORT; CELL CULTURE; CHLOROCEBUS AETHIOPS; COS 1 CELL LINE; DEFICIENCY; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; ENERGY METABOLISM; FEMALE; GENETICS; HUMAN; LACTIC ACIDOSIS; LIPOYLATION; METABOLISM; MISSENSE MUTATION; MITOCHONDRION; MORTALITY; NEWBORN;

ACIDOSIS, LACTIC; ACYLTRANSFERASES; AMINO ACID METABOLISM, INBORN ERRORS; ANIMALS; CELLS, CULTURED; CERCOPITHECUS AETHIOPS; COS CELLS; ENERGY METABOLISM; FEMALE; HUMANS; INFANT, NEWBORN; KETOGLUTARATE DEHYDROGENASE COMPLEX; KETOGLUTARIC ACIDS; LIPOYLATION; MITOCHONDRIA; MUTATION, MISSENSE; OXO-ACID-LYASES; PYRUVATE DEHYDROGENASE COMPLEX; THIOCTIC ACID;

EID: 84921302465     PISSN: None     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt585     Document Type: Article

References (0)