Serum selenium was reduced in these animals, which was a direct consequence of the mutant TRα1 and not related to their metabolic alterations.
Only one transgenic line, 13a, exhibited nondisjunction levels significantly different than the wild-type transgene, and this is likely a consequence of the mutant protein being expressed at lower levels than wild type (Table 1, Figure S2).
While it is unknown if these pathways are altered as a direct consequence of the mutant SOD1 protein's toxic gain of function or as a secondary defence, the data contribute further evidence of the potential for PI3K and AKT activators and PTEN inhibitors as therapeutic agents to slow the progression of motor neuron degeneration.
Although we have no in vitro data on the functional consequences of the W210R mutant, in silico analysis suggests that the amino acid change is severely damaging.
The mechanism of IAPP amyloid formation is not known in sufficient detail to offer an atomic level description of the consequences of the H18L mutant on amyloid formation by IAPP or on the binding of IAPP to resveratrol.
As the transferrin receptor is located correctly at the plasma membrane in TS-mutant cells at 42°C, impaired endocytosis is a direct consequence of the temperature-sensitive effect of the mutant clathrin.
As a consequence, replication of the mutant viruses in MDCK cell culture is strictly dependent on exogenously added proteases targeting monobasic cleavage sites, such as trypsin.
To determine the electrophysiological consequences of the Kcv mutants, we examined their functional properties in Xenopus oocytes using two-electrode voltage-clamp methods.
In light of the most recent publications ascribing Parkin a role in promotion of mitophagy [14], [15], [16], [17] our results can be interpreted as consequences of the inability of mutant Parkin to perform its function.
The consequences of the presence of mutant huntingtin in other tissues are less well understood.
However, except for a reduced glycolytic activity of GAPDH in fibroblast cells derived from HD patients (Mazzola & Sirover, 2001), other biochemical and physiological consequences of the association of mutant huntingtin and GAPDH have not been examined.
