Sentence examples for defective transport from inspiring English sources

The underlying metabolic defect is a defective transport of cystine across the lysosomal membrane [ 1, 2].

If, on the contrary, LPC and PC alterations have the same origin, this could involve either malabsorption or a defective transport by lipoproteins or both.

Changes of polycystin-2 gene expression in the retinal cilia may lead to defective transport of functional proteins through this apparatus, although no change in the morphology of cilia in the TGR retina has been detected so far.

These respiration-deficient mutants display elevated steady-state levels of ROS, probably due to enhanced electron leakage from their defective transport chains, which compromises the viability of chronologically-aged cells.

The MLPH-associated dilution of coat or plumage pigmentation should then result in the defective transport of melanosomes.

This finding suggests that the genetic interactions observed for let-23 may be caused by its defective transport in exocyst mutants.

Primary carnitine deficiency (OMIM 212140), which affects between 1 : 37.000–1 : 100.000 newborn individuals, is an autosomal recessive disorder of fatty acid oxidation resulting from defective carnitine transport caused by mutations in carnitine transporter gene SLC22A5 [ 75] coding for OCTN2 transport protein.

Several defects may contribute to the leptin resistant state, including defective leptin transport across the blood-brain barrier, reduced leptin receptor expression, defects in leptin signal transduction, or the induction of feedback inhibitors [10] [7].

The reduced SodA enzymatic activity of the mtsABC mutant, most likely due to low intracellular levels of manganese resulting from defective manganese transport, may account for this defect in ROS resistance.

There are numerous ways a defective membrane transport protein could contribute to a disease state, the most obvious being loss of transport function.

Defective membrane transport of lysine, arginine, and ornithine in the intestines causes lysinuric protein intolerance (LPI), a disorder characterized by protein intolerance, diarrhea, unsatisfactory weight gain, osteoporosis, and rashes; late complications of LPI include kidney and lung disease.