Sentence examples for mutant proteins such from inspiring English sources

Familial but not sporadic neurodegenerative diseases are associated with overexpressed or mutant proteins such as α-syn in PD (Thenganatt and Jankovic, 2014).

Interestingly, MID1 mutant proteins, such as those that have been identified in patients with OS, lose the ability to interact with EF-1α, strongly supporting a role for the complex in protein translation.

Furthermore, in the two-hybrid system vimentin was able to interact also with Rab7a mutant proteins such as the dominant negative T22N, the constitutively active Q67L and the CMT2B-causing mutants L129F, K157N, N161T and V162M (Fig. 1A B).

The KDELR also activates extracellular signal-regulated kinases (ERKs) and autophagy, which contributes to the clearance of intracellularly aggregated mutant proteins, such as superoxide dismutase 1 (SOD1), α-synuclein, and the pathological huntingtin [ 9].

Other mutant proteins such as the cystic fibrosis (Kopito 1999; Riordan 1999) causing delta F508 variant of the chloride channel (Gilbert et al. 1998) and misfolded major histocompatibility complex class I protein (Hsu et al. 1991; Raposo et al. 1995), have been shown to accumulate in the expanded pre-Golgi intermediates.

However, the advent of databases with experimental thermodynamic parameters for both wild-type and mutant proteins such as ProTherm and ProNIT (protein-nucleic acid) (Kumar et al., 2006) and more recently the SKEMPI (Moal and Fernandez-Recio, 2012), which describes protein protein complexes, has been helpful to the study of mutations on a larger scale.

This suggests a gain of function of the mutant protein such as retention of associated RNAs or proteins within the nucleus.

However, it was shown clearly that co-expression with the wild-type form increased the ability to form hexamers of otherwise monomeric mutant protein, such as the R374Q mutant (29).

Mutant cellular proteins such as mutant p53 may also provide useful targets for immunotherapy.

PBA and TUDCA are chemical chaperones that stabilize protein conformation, improve ER folding capacity, and facilitate trafficking of mutant proteins; as such, they have been shown to reduce ER stress levels (Ozcan et al, 2006).

These findings suggest that while certain branches of the UPS can be impaired by mutant polyglutamine proteins, such proteins do not necessarily cause total blockade of UPS-dependent degradation.