Concepedia

Pyruvate dehydrogenase deficiency as a result of splice-site mutations in the PDX1 gene

Runu Dey, Bernard Aral, Marc Abitbol, C. Marsac

Molecular Genetics and Metabolism · 2002 · 16 citations · 12 references

DOI

Concepts

References

12

Dihydrolipoamide Dehydrogenase-binding Protein of the Human Pyruvate Dehydrogenase Complex

Robert A. Harris, Melissa M. Bowker-Kinley, Pengfei Wu et al. · Journal of Biological Chemistry · 1997 · 109 citations · Full text

, , +11

Evidence for Splice Site Pairing via Intron Definition in <i>Schizosaccharomyces pombe</i>

Charles Romfo, Consuelo J. Alvarez, Willem J. van Heeckeren et al. · Molecular and Cellular Biology · 2000 · 81 citations · Full text

, , +17

Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia.

B. H. Robinson, N. MacKay, Roumyana Petrova-Benedict et al. · Journal of Clinical Investigation · 1990 · 67 citations · Full text

, , +15

A Short Sequence within Two Purine-Rich Enhancers Determines 5′ Splice Site Specificity

Leslie L. Elrick, Mary Beth Humphrey, Thomas A. Cooper et al. · Molecular and Cellular Biology · 1998 · 39 citations · Full text

, , +15

Defect in the lipoyl-bearing protein X subunit of the pyruvate dehydrogenase complex in two patients with encephalomyelopathy

C. Marsac, D. Stansbie, Gisèle Bonne et al. · The Journal of Pediatrics · 1993 · 37 citations

, , +14