Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Linus J. Östberg"'
Autor:
Camila D.Almeida Mgnani Silva, Débora de Paula Michelatto, Ana Letícia Gori Lusa, Soara Menabo, Leif Karlsson, Bengt Persson, Svetlana Lajic, Linus J. Östberg, Lilia Baldazzi, Gil Guerra-Júnior, Sofia Helena Valente de Lemos-Marini, Antonio Balsamo, Michela Barbaro, Maricilda Palandi de Mello, Nella Augusta Greggio
Publikováno v:
Clinical Biochemistry. 73:50-56
Objective Congenital adrenal hyperplasia (CAH) is an inborn error of metabolism and a common disorder of sex development where >90% of all cases are due to 21-hydroxylase deficiency. Novel and rare pathogenic variants account for 5% of all clinical c
Publikováno v:
Chemico-Biological Interactions. 234:80-84
Mammalian alcohol dehydrogenase (ADH) is a protein family divided into six classes and the number of known family members is increasing rapidly. Several primate genomes are completely analyzed for the ADH region, where higher primates (human and homi
Autor:
Anna Wedell, Svetlana Lajic, Bengt Persson, Fernanda Caroline Soardi, Linus J. Östberg, Michela Barbaro, Maricilda Palandi de Mello
Publikováno v:
Clinical Endocrinology. 82:37-44
A detailed genotype-phenotype evaluation is presented by studying the enzyme activities of five rare amino acid substitutions (Arg233Gly, Ala265Ser, Arg341Trp, Arg366Cys and Met473Ile) identified in the CYP21A2 gene in patients investigated for Conge
Publikováno v:
Biomolecular Concepts, Vol 5, Iss 3, Pp 257-264 (2014)
Aggregation of transthyretin (TTR), a plasma-binding protein for thyroxine and retinol-binding protein, is the cause of several amyloid diseases. Disease-associated mutations are well known, but wild-type TTR is, to a lesser extent, also amyloidogeni
Publikováno v:
Chemico-Biological Interactions. 202:97-103
Alcohol dehydrogenase 5 (ADH5) is a member of the mammalian alcohol dehydrogenase family of yet undefined functions. ADH5 was first identified at the DNA level in human and deer mouse. A rat alcohol dehydrogenase structure of similar type has been is
Autor:
Svetlana Lajic, Ana Letícia Gori Lusa, Sofia Helena Valente de Lemos-Marini, Linus J. Östberg, Michela Barbaro, Maricilda Palandi de Mello, Leif Karlsson, Gil Guerra-Júnior, Bengt Persson, Débora de Paula Michelatto, Camila D.Almeida Mgnani Silva
Publikováno v:
International Journal of Endocrinology, Vol 2016 (2016)
We present the functional and structural effects of seven novel (p.Leu12Met, p.Arg16Cys, p.Ser101Asn, p.Ser202Gly, p.Pro267Leu, p.Gln389_Ala391del, and p.Thr450Met) and two previously reported but not studied (p.Ser113Phe and p.Thr450Pro)CYP21A2mutat
Publikováno v:
Biochemical and biophysical research communications. 450(4)
The C-peptide of proinsulin exhibits multiple activities and several of the underlying molecular interactions are known. We recently showed that human C-peptide is sub-divided into a tripartite architecture and that the pattern, rather than the exact
Autor:
Bengt Persson, Linus J. Östberg, Mikko Hellgren, Claudia A. Staab, Jan-Olov Höög, Jonas Carlsson
Publikováno v:
Cellular and molecular life sciences : CMLS. 67(17)
Alcohol dehydrogenase 3 (ADH3) has been assigned a role in nitric oxide homeostasis due to its function as an S-nitrosoglutathione reductase. As altered S-nitrosoglutathione levels are often associated with disease, compounds that modulate ADH3 activ