The interplay between impaired protein biosynthesis and/or function caused by missense mutations, particularly in relation to specific protein regions, has been poorly investigated. As model we chose the severe p.Y450C mutation in the carboxyl-terminal region of coagulation factor IX (FIX) and, by expression of a panel of recombinant variants, demonstrated the key role of the tyrosine phenyl group for both FIX secretion and coagulant activity. Comparison among highly homologous coagulation serine proteases indicate that additive or compensatory pleiotropic effects on secretion and function by carboxyl-terminal mutations produce life-threatening or mild phenotypes in the presence of similarly reduced protein amounts
Pre-peptide regions of secreted proteins display wide sequence variability, even among highly homolo...
Factor IX is a vitamin K-dependent serine protease, which exists as a zymogen in the blood. On activ...
Factor IX (FIX) is a vitamin K-dependent serine protease precursor that upon activation plays a cr...
The interplay between impaired protein biosynthesis and/or function caused by missense mutations, pa...
AbstractThe interplay between impaired protein biosynthesis and/or function caused by missense mutat...
Background The homologous coagulation factor X (FX), VII (FVII), IX (FIX) and protein C (PC) display...
BACKGROUND: The homologous coagulation factor X (FX), VII (FVII), IX (FIX) and protein C (PC) displ...
The gene mutations leading to hemorrhagic disorders provide peculiar models to elucidate molecular m...
Journal URL: http://www.springer.at/amino_acidsAbstractIn this study site-directed mutagenesis was p...
We report 2 asymptomatic homozygotes for the nonsense p.R462X mutation affecting the carboxy-terminu...
We report 2 asymptomatic homozygotes for the nonsense p.R462X mutation affecting the carboxy-terminu...
Background: Amino acid substitutions caused by missense mutations, representing the most frequent ca...
Background Missense mutations often impair protein folding and intracellular processing, which can b...
Background Amino acid substitutions caused by missense mutations, representing the most frequent ge...
Factor VII (FVII), IX (FIX), X and protein C (PC), having distinct protein properties and specificit...
Pre-peptide regions of secreted proteins display wide sequence variability, even among highly homolo...
Factor IX is a vitamin K-dependent serine protease, which exists as a zymogen in the blood. On activ...
Factor IX (FIX) is a vitamin K-dependent serine protease precursor that upon activation plays a cr...
The interplay between impaired protein biosynthesis and/or function caused by missense mutations, pa...
AbstractThe interplay between impaired protein biosynthesis and/or function caused by missense mutat...
Background The homologous coagulation factor X (FX), VII (FVII), IX (FIX) and protein C (PC) display...
BACKGROUND: The homologous coagulation factor X (FX), VII (FVII), IX (FIX) and protein C (PC) displ...
The gene mutations leading to hemorrhagic disorders provide peculiar models to elucidate molecular m...
Journal URL: http://www.springer.at/amino_acidsAbstractIn this study site-directed mutagenesis was p...
We report 2 asymptomatic homozygotes for the nonsense p.R462X mutation affecting the carboxy-terminu...
We report 2 asymptomatic homozygotes for the nonsense p.R462X mutation affecting the carboxy-terminu...
Background: Amino acid substitutions caused by missense mutations, representing the most frequent ca...
Background Missense mutations often impair protein folding and intracellular processing, which can b...
Background Amino acid substitutions caused by missense mutations, representing the most frequent ge...
Factor VII (FVII), IX (FIX), X and protein C (PC), having distinct protein properties and specificit...
Pre-peptide regions of secreted proteins display wide sequence variability, even among highly homolo...
Factor IX is a vitamin K-dependent serine protease, which exists as a zymogen in the blood. On activ...
Factor IX (FIX) is a vitamin K-dependent serine protease precursor that upon activation plays a cr...