Sentence examples for transport mutations from inspiring English sources

With respect to axonal transport, mutations in protein subunits of the dynein-dynactin complexes, which are responsible for retrograde trafficking in axons, give rise to sensory and/or motor neuron degeneration with relatively mild symptoms and a slow onset.

With respect to retrograde transport, mutations in the dynein heavy chain result in motor-selective dysfunction in mice (15).

Since ABCA7 plays a role in the lipid metabolism as well as in APP transport, mutations in ABCA7 gene might be involved in LOAD.

However, unlike what is seen in mice with ciliary defects due to intraflagellar transport mutations (Brown and Murcia, 2003; Jonassen et al., 2008), the cysts in the Mks1-mutant animals formed prenatally.

Although deletions of SAR1, SEC23, or SEC24 are all lethal in yeast (Lee et al., 2004), consistent with the broad function of ER-Golgi transport, mutations in the genes encoding several mammalian COPII components have been associated with remarkably limited phenotypes, often restricted to a specific cell type or tissue.

Residues VsAMT1 D23 and StAMT1 D15 are predicted to be essential for ammonium transport, while mutations of VsAMT1 W1A-L and S87A and StAMT1 S76A may further enhance ammonium transport.

Blocking of COPII vesicle transport by mutations in sec23, sec24 and sar1 causes a stop of protein trafficking to the extracellular space or to the plasma membrane, and concomitantly, the ER loses its tubular shape and becomes spherical.

As mitochondrial DNA encodes several proteins, including enzymes of the electron transport chain, mutations may lead to impaired energy production and the risk of further electron leakage, compounding the original stress.

The Kcnj13 gene encodes a member of the inwardly rectifying potassium channel family of proteins and regulates ion transmembrane transport and mutations in Kcnj1 are associated with snowflake vitreoretinal degeneration [ 50].

There are now hundreds if not a thousands of examples of transport-defective mutations to proteins.

In yeast, Noc1p and Noc3p are required for ribosome maturation and transport, where mutation of each Noc protein impairs intranuclear transport of 60S subunits at different stages and inhibits pre-rRNA processing [ 26].