Lysosomal Enzymes
Mostrando 1-12 de 275 artigos, teses e dissertações.
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1. Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma
Abstract Mucolipidosis II and III (ML II and III) alpha/beta and ML III gamma are lysosomal diseases caused by GlcNAc-1-phosphotransferase deficiency. Previous data indicate that MLII patients have functionally impaired immune system that contributes to predisposition to infections.We evaluated the immunological phenotype of three Brazilian patients with ML
Genet. Mol. Biol.. Publicado em: 14/11/2019
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2. The Link Between Lysosomal Storage Disorders and More Common Diseases
Abstract In the last decades, it has become more and more evident that lysosomal storage disorders and common neurodegenerative diseases such as Alzheimer and Parkinson diseases have clinical, neuropathological, and genetic features in common, including lysosomal dysfunction and impaired autophagy. Patients with Gaucher and even carriers of Gaucher disease h
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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3. Small Molecules: Substrate Inhibitors, Chaperones, Stop-Codon Read Through, and Beyond
Abstract Lysosomal storage disorders are rare genetic disorders due to deficient lysosomal activity, which leads to progressive accumulation of nonmetabolized substrates. Patient’s clinical outcomes have significantly improved since the advent of enzyme replacement therapy, even though this therapeutic approach presents important limitations, such as immun
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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4. Expert Opinions on Managing Fertility and Pregnancy in Patients With Mucopolysaccharidosis
Abstract The mucopolysaccharidosis (MPS) disorders are rare genetic diseases caused by deficiencies in lysosomal enzymes involved in the degradation of glycosaminoglycans, leading to pulmonary, cardiac and neurological dysfunctions, skeletal anomalies, impaired vision, and/or hearing and shortened life spans. Whereas in the past, few individuals with MPS rea
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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5. Validation of a Multiplex Tandem Mass Spectrometry Method for the Detection of Selected Lysosomal Storage Diseases in Dried Blood Spots
Abstract Background: Interest in screening methods for lysosomal storage diseases (LSDs) has increased in recent years, since early diagnosis and treatment are essential to prevent or attenuate the onset of symptoms and the complications of these diseases. In the current work, we evaluated the performance of tandem mass spectrometry (MS/MS) for the detectio
J. inborn errors metab. screen.. Publicado em: 16/05/2019
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6. Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart
Abstract Mucopolysaccharidosis (MPS) are a group of rare genetic disorders caused by deficiency in the activity of specific lysosomal enzymes required for the degradation of glycosaminoglycans (GAGs). A defect in the activity of these enzymes will result in the abnormal accumulation of GAGs inside the lysosomes of most cells, inducing progressive cellular da
Genet. Mol. Biol.. Publicado em: 11/04/2019
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7. Outcomes of a Physician Survey on the Type, Progression, Assessment, and Treatment of Neurological Disease in Mucopolysaccharidoses
Abstract The mucopolysaccharidosis (MPS) disorders are a group of rare, inherited lysosomal storage disorders. In each of the 11 MPS (sub)types, deficiency in a specific lysosomal enzyme (1 of 11 identified enzymes) leads to accumulation of glycosaminoglycans, resulting in cell, tissue, and multi-organ dysfunction. There is great heterogeneity in the clinica
J. inborn errors metab. screen.. Publicado em: 28/02/2019
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8. Thiol/disulfide status regulates the activity of thiol-containing kinases related to energy homeostasis in rat kidney
ABSTRACT Considering that thiol-containing enzymes like kinases are critical for several metabolic pathways and energy homeostasis, we investigated the effects of cystine dimethyl ester and/or cysteamine administration on kinases crucial for energy metabolism in the kidney of Wistar rats. Animals were injected twice a day with 1.6 µmol/g body weight cystine
An. Acad. Bras. Ciênc.. Publicado em: 07/12/2017
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9. Gaucher disease in a family from Maranhão
Background: Gaucher disease is an inborn, autosomal recessive error of the metabolism which belongs to the group of lysosomal storage disorders. Objective: This work reports on the treatment of Gaucher disease in several members of the same family from the countryside of Maranhão. Methods: This was an observational, retrospective and prospective, descript
Rev. Bras. Hematol. Hemoter.. Publicado em: 2014-10
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10. Streptozotocin-induced diabetes mellitus affects lysosomal enzymes in rat liver
It has been previously shown that dextran sulfate administered to diabetic rats accumulates in the liver and kidney, and this could be due to a malfunction of the lysosomal digestive pathway. The aim of the present study was to evaluate the expression and activities of lysosomal enzymes that act upon proteins and sulfated polysaccharides in the livers of dia
Braz J Med Biol Res. Publicado em: 2014-06
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11. CORRELAÇÃO DA ATIVIDADE DO PROTEASSOMA, EXPRESSÃO DE CD44 E ENZIMAS PROTEOLÍTICAS EM EXTRATOS INTESTINAIS DE CAMUNDONGOS TRATADOS COM 1,2 DIMETILHIDRAZINA E INIBIDORES BOWMAN-BIRK
The Bowman-Birk inhibitors (BBI) are protein molecules containing two distinct inhibitory domains for trypsin and chymotrypsin-like enzymes. The interest for this class of inhibitors is based on studies which demonstrated a protective effect promoted by BBI, particularly for chemically-induced cancers. In the present work, we evaluated the effects of BBI iso
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 02/06/2011
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12. Avaliação audiológica em pacientes com mucopolissacaridose: estudo da ocorrência, tipo e grau de perda auditiva / Audiological evaluation in mucopolysaccharidosis: study of the occurrence, type and degree of hearing loss
Purpose: the mucopolysaccharidosis are a group of diseases caused by a deficiency in the lysosomal enzymes involved in the metabolism of mucopolysaccharides. Inherited metabolic diseases are caused by inborn errors of metabolism that lead to lack of proper functioning of certain enzymes. Hearing loss is a frequent manifestation in patients with mucopolysacch
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 26/01/2011