Sentence examples for defective enzyme from inspiring English sources

In homocystinuria, the defective enzyme is cystathionine synthetase, which normally converts homocysteine to cystathionine.

In citrullinemia, the defective enzyme is argininosuccinate synthetase; in argininosuccinic aciduria, it is the enzyme argininosuccinase.

Inherited metabolic diseases were postulated to occur when a gene is mutated in such a way as to produce a defective enzyme with diminished or absent function.

The research, led by Stanford's Daria Mochly-Rosen, PhD, and Sunhee Hwang, PhD, identified a small molecule that can patch up the defective enzyme.

Such defects, if not lethal, result in the accumulation and excretion of the substrate of the defective enzyme; in normal organisms, the substrate would not accumulate, because it would be acted upon by the enzyme.

In the current paper, we describe the production of human recombinant PPT1 (the defective enzyme in INCL) by standard methods in Chinese Hamster Ovary (CHO) cells.

He also is investigating how enzyme cofactors like vitamins and minerals fix defective enzymes.

Sufferers inherit genetic mutations that result in defective enzymes (the proteins that perform the body's biochemical reactions).

Their research, partially supported by the Defense Advanced Research Projects Agency DARPAandand the U.S. Army, may enable them to employ U.S. soldiers to test the theory that vitamin supplementation can tune up defective enzymes.

In a review article in the April issue of The American Journal of Clinical Nutrition, UC Berkeley's Bruce N. Ames lists more than 50 genetic diseases successfully treated with high doses of vitamins, most of them rare inborn metabolic diseases due to defective enzymes.

Two proteostasis regulators (celastrol and salubrinal) were used in patient-derived fibroblasts and resulted in improved activity of the defective enzymes.