Gaucher disease type 1 (GD1), caused by mutations in the GBA1 gene, results β-glucocerebrosidase (GCase) deficiency. Gene therapy is under investigation as a potential treatment option for patients with GD1. The investigational gene FLT201 consists of an adeno-associated virus (AAVS3) encoding novel GCase variant (GCase-85). Preclinical characterization showed promising results, GCase-85 being ...

 Background: Spinal muscular atrophy (SMA) is the second most common lethal autosomal recessive disease. It is a neuromuscular disorder caused by degenerative of lower motor neurons and occasionally bulbar neurons leading to progressive limb paralysis and muscular atrophy. The SMN1 gene is recognized as a SMA causing gene while NAIP has been characterized as a modifying factor for the clinical ...

Terminally differentiated plasma cells and mouse T cells do not express major histocompatibility complex (MHC) class II genes although class II gene expression is observed in pre-B and mature B cells as well as in activated human T cells. Transient heterokaryons were prepared and analyzed to investigate the mechanisms of inactivation of MHC class II gene in mouse plasmarytoma cells and mouse T ...

Terminally differentiated plasma cells and mouse T cells do not express major histocompatibility complex (MHC) class II genes although class II gene expression is observed in pre-B and mature B cells as well as in activated human T cells. Transient heterokaryons were prepared and analyzed to investigate the mechanisms of inactivation of MHC class II gene in mouse plasmacytoma cells and mouse T ...

Light is a very important factor in growth and reproduction. This study aims to determine the effect of two different lighting systems on expression MyoD, IGF-I STAT5B genes leg muscles Japanese quail. For this aim, were used; 16 hours’ light: 8 darkness (16 h L: D) group I (8 II. Quantitative real-time PCR was used for assessment gene levels muscles. When Real Time results evaluated, it determ...

It has been noted that the expression of Sd(a), including its antigenic structure, the beta-1,4-N-acetylgalactosyltransferase II (beta4GalNAcT-II) activity responsible for its formation, and the Sd(a) beta4GalNAcT-II mRNA transcript, is drastically reduced in oncogenetic processes in gastrointestinal tissues. Markedly reduced metastatic potential has been demonstrated in colon and gastric cance...