| Id |
Subject |
Object |
Predicate |
Lexical cue |
| T1 |
0-128 |
Sentence |
denotes |
Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients. |
| T2 |
129-319 |
Sentence |
denotes |
Two overlapping cDNA clones (1,991 bp and 736 bp, respectively) encoding the precursor of human mitochondrial very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) were cloned and sequenced. |
| T3 |
320-526 |
Sentence |
denotes |
The cDNA inserts of these clones together encompass a region of 2,177 bases, encoding the entire protein of 655 amino acids, including a 40-amino acid leader peptide and a 615-amino acid mature polypeptide. |
| T4 |
527-626 |
Sentence |
denotes |
PCR-amplified VLCAD cDNAs were sequenced in cultured fibroblasts from two VLCAD-deficient patients. |
| T5 |
627-721 |
Sentence |
denotes |
In both patients, a 105-bp deletion encompassing bases 1078-1182 in VLCAD cDNA was identified. |
| T6 |
722-807 |
Sentence |
denotes |
The deletion seems to occur due to exon skipping during processing of VLCAD pre-mRNA. |
| T7 |
808-879 |
Sentence |
denotes |
This is the first demonstration of a mutation causing VLCAD deficiency. |
| T8 |
880-1162 |
Sentence |
denotes |
Quantitative cDNA expression of normal human VLCAD was performed in the patients' fibroblasts, using vaccinia viral system, which demonstrated that the deficiency of the normal VLCAD protein causes impaired long-chain fatty acid beta-oxidation activity in the patients' fibroblasts. |
| T9 |
1163-1467 |
Sentence |
denotes |
In patient fibroblasts, raising VLCAD activity to approximately 20% of normal control fibroblast activity raised palmitic acid beta-oxidation flux to the level found in control fibroblasts, which may offer important information for the rational design of future somatic gene therapy for VLCAD deficiency. |
