Lysosomes
Mostrando 1-12 de 713 artigos, teses e dissertações.
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1. Fabry disease: genetics, pathology, and treatment
SUMMARY Fabry disease (FD) is a recessive monogenic inheritance disease linked to chromosome X, secondary to mutations in the GLA gene. Its prevalence is estimated between 1:8,454 and 1:117,000 among males and is probably underdiagnosed. Mutations in the GLA gene lead to the progressive accumulation of globotriaosylceramide (Gb3). Gb3 accumulates in lysosome
Rev. Assoc. Med. Bras.. Publicado em: 13/01/2020
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2. Lysosomal Storage Diseases
Abstract Lysosomal storage diseases are a group of inherited and acquired disorders. They are characterized by interruption of recycling of cellular and extracellular molecules. Clinically, they are presented as developmental and neurological symptoms similar to other inherited and acquired disorders. This article reviews the function of lysosomes, the curre
J. inborn errors metab. screen.. Publicado em: 15/07/2019
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3. Lysosomes, Lysosomal Storage Diseases, and Inflammation
Abstract Lysosomes were originally described in the early 1950s by de Duve who was also the first to recognize the importance of these organelles in human disease. We know now that lysosomes are involved in numerous biological processes, and abnormalities in lysosomal function may result in a broad range of diseases. This review will briefly discuss the role
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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4. Anderson-Fabry Disease: A Rare Disease That Mimics Common Cardiac, Neurological, Renal, and Other Disorders: Approach for the Differential Diagnosis and Follow-Up
Abstract Anderson-Fabry disease (AFD) is a rare inherited X-linked disease, caused by mutations of the gene encoding the α-galactosidase A enzyme, that leads to a deficiency or absence of its activity with consequent accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids in the lysosomes of several cells types in the organism, mainly the e
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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5. 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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6. Case report of myeloperoxidase deficiency associated with disseminated paracoccidioidomycosis and peritoneal tuberculosis
Abstract Myeloperoxidase (MOP) is present in monocyte and neutrophil lysosomes, catalyzing hydrogen peroxide and chloride ion conversion to hypochlorous acid. MOP seems to destroy pathogens during phagocytosis by neutrophils and is considered an important defense against innumerous bacteria. We present a patient who had MOP deficiency, who presented with a s
Rev. Soc. Bras. Med. Trop.. Publicado em: 2017-08
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7. ALCALOIDES ACRIDÔNICOS INIBEM CATEPSINA L E V
Cathepsins represent a class of enzymes that has the primary function of randomly degrading proteins in the lysosomes, although are also involved in different pathologies. The aim of this paper was to evaluate the capacity of acridone alkaloids isolated from Swinglea glutinosa (Rutaceae) to inhibit cathepsin L in vitro . The IC50 values found were in the 0.8
Quím. Nova. Publicado em: 2016-01
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8. Arthropod venom Hyaluronidases: biochemical properties and potential applications in medicine and biotechnology
AbstractHyaluronidases are enzymes that mainly degrade hyaluronan, the major glycosaminoglycan of the interstitial matrix. They are involved in several pathological and physiological activities including fertilization, wound healing, embryogenesis, angiogenesis, diffusion of toxins and drugs, metastasis, pneumonia, sepsis, bacteremia, meningitis, inflammatio
J. Venom. Anim. Toxins incl. Trop. Dis. Publicado em: 10/11/2015
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9. Copper Induced Lysosomal Membrane Destabilisation in Haemolymph Cells of Mediterranean Green Crab (Carcinus aestuarii, Nardo, 1847) from the Narta Lagoon (Albania)
ABSTRACTDestabilisation of blood cell lysosomes in Mediterranean green crabCarcinus aestuarii was investigated using Neutral Red Retention Assay (NRRA). Crabs collected in Narta Lagoon, Vlora (Albania) during May 2014 were exposed in the laboratory to sub-lethal, environmentally realistic concentrations of copper. Neutral Red Retention Time (NRRT) and glucos
Braz. arch. biol. technol.. Publicado em: 2015-10
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10. Interferon-γ inhibits group B Streptococcus survival within human endothelial cells
Endothelial dysfunction is a major component of the pathophysiology of septicaemic group B Streptococcus (GBS) infections. Although cytokines have been shown to activate human umbilical vein endothelial cells (HUVECs), the capacity of interferon (IFN)-γ to enhance the microbicidal activity of HUVECs against GBS has not been studied. We report that the viabi
Mem. Inst. Oswaldo Cruz. Publicado em: 28/10/2014
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11. Histomorphological changes by epididymal lithiasis in roosters
Epididymal lithiasis (EL) histopathology is described using light and electronic microscopy in roosters (Gallus gallus domesticus) naturally affected by EL in Minas Gerais, Brazil. The histologic and morphological changes by EL in roosters was performed regarding cellular and subcellular details through light and electron microscopy. Efferent ductules epithe
Rev. Bras. Cienc. Avic.. Publicado em: 2014-03
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12. Peripheral blood fibrocytes: new information to explain the dynamics of Leishmania infection
Fibrocytes are important for understanding the progression of many diseases because they are present in areas where pathogenic lesions are generated. However, the morphology of fibrocytes and their interactions with parasites are poorly understood. In this study, we examined the morphology of peripheral blood fibrocytes and their interactions with Leishmania
Mem. Inst. Oswaldo Cruz. Publicado em: 28/11/2013