Buscar
Mostrando ítems 41-50 de 258
Complement Component C3 Participates in Early Stages of Niemann-Pick C Mouse Liver Damage
(MDPI AG, 2020)
Niemann-Pick type C (NPC), a lysosomal storage disorder, is mainly caused by mutations in the NPC1 gene. Niemann-Pick type C patients and mice show intracellular cholesterol accumulation leading to hepatic failure with ...
c-Abl activates RIPK3 signaling in Gaucher disease
(2021)
Gaucher disease (GD) is caused by homozygous mutations in the GBA1 gene, which encodes the lysosomal β-glucosidase (GBA) enzyme. GD affects several organs and tissues, including the brain in certain variants of the disease. ...
Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study
(2017-01-01)
Mucopolysaccharidoses (MPS) types I, II and VI are associated with deficiencies in alpha- L-iduronidase, iduronate-2-sulfatase and N-acetylgalactosamine-4-sulfatase, respectively, and generally involve progressive and ...
A Mouse Systems Genetics Approach Reveals Common and Uncommon Genetic Modifiers of Hepatic Lysosomal Enzyme Activities and Glycosphingolipids
(2023)
Identification of genetic modulators of lysosomal enzyme activities and glycosphingolipids (GSLs) may facilitate the development of therapeutics for diseases in which they participate, including Lysosomal Storage Disorders ...
New mutations in the GLA gene in Brazilian families with Fabry disease
(NATURE PUBLISHING GROUPNEW YORK, 2012-06)
Fabry disease (FD) is an X-linked inborn error of glycosphingolipid catabolism that results from mutations in the alpha-galactosidase A (GLA) gene. Evaluating the enzymatic activity in male individuals usually performs the ...
Swainsonine-induced lysosomal storage disease in goats caused by the ingestion of Sida rodrigoi Monteiro in North-western Argentina
(Pergamon-Elsevier Science Ltd, 2017-03)
There are numerous poisonous plants that can induce intralysosomal accumulation of glycoproteins and neurologic syndromes. Here we describe for the first time, a disease caused by ingesting Sida rodrigoi Monteiro in goats ...
Generation of Polyclonal Antibodies Against Recombinant Human Glucocerebrosidase Produced in Escherichia coli
(HUMANA PRESS INC, 2010)
Deficiency of the lysosomal glucocerebrosidase (GCR) enzyme results in Gaucher`s disease, the most common inherited storage disorder. Treatment consists of enzyme replacement therapy by the administration of recombinant ...
Prevalence of obstructive sleep apnea in patients with mucopolysaccharidosis types I, II, and VI in a reference center
(Springer, 2014-12-01)
Mucopolysaccharidosis (MPS) encompasses a group of rare lysosomal storage disorders that are associated with the accumulation of glycosaminoglycans in organs and tissues. Respiratory disorders occur in all MPS types. in ...