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Purificação e imobilização de β-glicosidase do fungo Thermoascus aurantiacus em criogéis supermacroporosos
(Universidade Estadual Paulista (Unesp), 2021-02-22)
As β-glicosidases são enzimas que hidrolisam ligações glicosídicas β-(1,4) terminais, função essencial a muitos processos biológicos, sendo, portanto, de grande interesse para a bioquímica e a biotecnologia. Este trabalho ...
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations
(DR DIETRICH STEINKOPFF VERLAG, 2009)
Pompe disease (glycogen storage disease type II or acid maltase deficiency) is an inherited autosomal recessive deficiency of acid alpha-glucosidase (GAA), with predominant manifestations of skeletal muscle weakness. A ...
Rol de la subunidad beta de la glucosidasa II en el control de calidad del plegamiento de glicoproteínas en el retículo endoplásmicoThe role of glucosidase II ß subunit in the quality control of glycoprotein folding in the endoplasmic reticulum
(Facultad de Ciencias Exactas y Naturales. Universidad de Buenos Aires, 2012)
UDP-Glucose: Glycoprotein Glucosyltransferase 1,2 (UGGT1,2)
(Springer, 2014)
Almost one-third of proteins synthesized by eukaryotic cells belong to the secretory pathway, entering the endoplasmic reticulum (ER) either co- or posttranslationally. In the ER, proteins acquire their native tertiary ...
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations
(Dr Dietrich Steinkopff Verlag, 2009-11-01)
Pompe disease (glycogen storage disease type II or acid maltase deficiency) is an inherited autosomal recessive deficiency of acid alpha-glucosidase (GAA), with predominant manifestations of skeletal muscle weakness. A ...
Análise e expressão de genes de PKS II e de carboidrases provenientes de bibliotecas metagenômicas
(Universidade Estadual Paulista (Unesp), 2015-02-12)
The Clone metagenomic B5pl37 (insert of 23kb length) was obtained by a PCR prospect for gene set Polyketide Synthases type II (PKSII) in a library cosmidial eucalyptus grove soil sample (SE). The PKSII are responsible for ...
Pompe disease: Clinical perspectives
(Dove Medical, 2017)
Pompe disease (acid alpha-glucosidase deficiency, OMIM 232300) is a rare lysosomal storage disorder due to autosomal recessive mutations in the GAA gene. It has also been called acid maltase deficiency and glycogen storage ...
Implementação e padronização de técnicas de dosagem enzimática para detecção de doenças de depósito lisossômico
(Universidade Federal de São Paulo (UNIFESP), 2009-02-27)
Objectives: To implement and to standardize enzymatic activity techniques using dried blood spots on filter paper for the enzymes -galactosidase A, for the diagnosis of Fabry Disease patients; -iduronidase, for the ...