Pyruvate dehydrogenase deficiency as a result of splice-site mutations in the PDX1 gene
| Autor: | Marc Abitbol, Cécile Marsac, Bernard Aral, Runu Dey |
|---|---|
| Rok vydání: | 2002 |
| Předmět: |
Pyruvate dehydrogenase lipoamide kinase isozyme 1
Endocrinology Diabetes and Metabolism Molecular Sequence Data Pyruvate Dehydrogenase Complex Biology PKM2 Pyruvate dehydrogenase phosphatase medicine.disease_cause Biochemistry E3 binding protein Exon Endocrinology Genetics medicine Humans Amino Acid Sequence Lactic Acid Molecular Biology Sequence Deletion Mutation Base Sequence Pyruvate dehydrogenase complex medicine.disease Molecular biology Pyruvate dehydrogenase deficiency biology.protein RNA Splice Sites Leigh Disease Peptides |
| Zdroj: | Molecular Genetics and Metabolism. 76:344-347 |
| ISSN: | 1096-7192 |
| DOI: | 10.1016/s1096-7192(02)00104-x |
| Popis: | Mutations in the E3-binding protein component of pyruvate dehydrogenase complex have been demonstrated in a few cases of Leigh syndrome. We report that two mutations previously detected in the E3-binding protein cDNA are the consequence of splice-site mutations. Both involved a single base substitution in the conserved dinucleotides of splice junctions, one leading to skipping of an exon and the other, to activation of a cryptic site. Our findings add to the understanding of molecular basis of E3-binding protein deficiency and indicate yet again the high frequency of splicing mutations in this gene. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect