Genetic basis of mitochondrial HMG-CoA synthase deficiency

Human Genetics

Volumn 109, Issue 1, 2001, Pages 19-23

  Aledo, R ^a   Zschocke, J ^a   Pie J ^a   Mir, C ^a   Fiesel, S ^a   Mayatepek, E ^a   Hoffmann, G F ^a   Casals, N ^a   Hegardt, F G ^a  

^a UNIVERSITY OF BARCELONA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; CARNITINE; COMPLEMENTARY DNA; FATTY ACID; GLUCOSE; HYDROXYMETHYLGLUTARYL COENZYME A SYNTHASE; KETONE; LACTATE DEHYDROGENASE; MEVALONIC ACID; MITOCHONDRIAL ENZYME;

ACIDURIA; AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; AUXOTROPHY; CASE REPORT; CHROMOSOME MUTATION; CYTOSOL; DIAGNOSTIC PROCEDURE; DIAGNOSTIC VALUE; DIET RESTRICTION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FOOD INTAKE; GASTROENTERITIS; GENE EXPRESSION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC CODE; GENETIC MARKER; GLUCOSE INFUSION; HEPATOMEGALY; HUMAN; HYPOGLYCEMIA; HYPOGLYCEMIC COMA; IN VITRO STUDY; INFANT; KETOGENESIS; LACTATE DEHYDROGENASE BLOOD LEVEL; LIVER; MALE; MISSENSE MUTATION; MOLECULAR DYNAMICS; PRIORITY JOURNAL; RECESSIVE INHERITANCE; RESPIRATORY ARREST; TESTIS; TREATMENT OUTCOME; URINALYSIS; VOMITING;

ANIMALS; BASE SEQUENCE; CHO CELLS; CRICETINAE; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA, COMPLEMENTARY; FEMALE; GENE EXPRESSION; GENES, RECESSIVE; HUMANS; HYDROXYMETHYLGLUTARYL-COA SYNTHASE; INFANT; MALE; MITOCHONDRIA; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE;

EID: 0034910847     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390100554     Document Type: Article

References (13)

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2. Rat mitochondrial and cytosolic 3-hydroxy-3-methylglutaryl-CoA synthases are encoded by two different genes
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5. Blatella germanica has two HMG-CoA synthase genes. Both are regulated in the ovary during the gonadotrophic cycle
6. Efficient amplification using megaprimer by asymmetric polymerase chain reaction
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10. Transfection of the ketogenic mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase cDNA into Mev-1 cells corrects their auxotrophy for mevalonate
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