hereditary inclusion body myopathy (hibm) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing. this myopathy is autosomal recessive and associated to upd-n-acetylglucosamine-2-epimerase/n-acetylmannosamine kinase (gne) gene mutations. in this study, we report a novel gne homozygous point mutation c.1834t>g that results in amino acid substitution of cysteine 6...

The genetic manipulation of mice has become an essential and elegant method for studying the function of proteins in physiology, and for testing the veracity of information obtained from cell culture experiments. During the past few years, a variety of transgenic and knockout mouse models of PKB (protein kinase B)/Akt have been generated and investigated. In this paper, we focus on the phenotyp...

Among the signalling proteins that respond to a large variety of signals, protein kinase B (PKB, also known as Akt) appears to be a central player in regulation of metabolism, cell survival, motility, transcription and cell-cycle progression. Conserved from primitive metazoans to humans, PKB belongs to the AGC subfamily of the protein kinase superfamily, which consists of 518 members in humans ...

objective(s) inhibitors of p38 map kinase are considered as suitable target in the treatment of inflammatory diseases such as rheumatoid arthritis and bowel inflammatory diseases. the development of 5-alkylthio-1-aryl-2-(4-pyridinyl) triazoles as inhibitors of p38 map kinase is described. these are analogues of 4- pyridinyl imidazole p38 map kinase inhibitor reported by merck research laborator...

During 3T3-L1 preadipocyte differentiation induction, the insulin-stimulated insulin-like growth factor-1 (IGF-1) receptor signal is responsible for the induction of adipocyte differentiation. Treatment with inhibitors of phosphatidylinositol 3-kinase, LY294002 or wortmannin, leads to the complete blockade of adipocyte differentiation in 3T3-L1 preadipocytes. Of the three factors (1-methyl-3-is...