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Molecular analysis of three novel G6PD variants: G6PD Pedoplis-Ckaro, G6PD Piotrkow and G6PD Krakow

100%

Maciag M., Plochocka D., Jablonska-Skwiecinska E., Mendek-Czajkowska E., Golaszewska E., Strojny W., Balwierz W., Zdebska E., Burzynska B.

Acta Biochimica Polonica

2007

tom 54

nr 4

877-881

We present three novel mutations in the G6PD gene and discuss the changes they cause in the 3-dimensional structure of the enzyme: 573C→G substitution that predicts Phe to Leu at position 191 in the C-terminus of helix αe, 851T→C mutation which results in the substitution 284Val→Ala in the β+α domain close to the C-terminal part of helix αj, and 1175T→C substitution that predicts Ile to Thr change at position 392.

Characterization of a novel transcript variant of human STAU1 gene

80%

Nie F., Yao H., Qi R., Li X., Wu C.

Acta Biochimica Polonica

2008

tom 55

nr 3

473-478

Human STAU1 is one member of the family of double-stranded RNA (dsRNA)-binding proteins. It is thought to function in transporting mRNA, controlling translation and eliciting mRNA decay in neurons, and to function in infection of influenza virus and human immunodeficiency virus type 1 (HIV-1). Four transcripts coding two isoforms have been identified before. In this study, we have isolated a novel transcript of STAU1, coding a novel isoform that has six amino acids more (SFPLKQ) than isoform a. In order to examine the tissue distribution of this novel isoform, we have performed RT-PCR experiments and the analysis showed that it was highly expressed in heart, liver, kidney and pancreas.

Ograniczanie wyników

2 Acta Biochimica Polonica

1 Balwierz W.

1 Burzynska B.

1 Golaszewska E.

1 Jablonska-Skwiecinska E.

1 Li X.

1 Maciag M.

1 Mendek-Czajkowska E.

1 Nie F.

1 Plochocka D.

1 Qi R.

1 Strojny W.

1 Wu C.

1 Yao H.

1 Zdebska E.

1 2008

1 2007

Wyniki wyszukiwania

Molecular analysis of three novel G6PD variants: G6PD Pedoplis-Ckaro, G6PD Piotrkow and G6PD Krakow

Characterization of a novel transcript variant of human STAU1 gene