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[PMID]:28385189
[Au] Autor:White EJ; Trigatti BL; Igdoura SA
[Ad] Endereço:Department of Biology, McMaster University, Hamilton, Ontario, Canada.
[Ti] Título:Suppression of NK and CD8 T cells reduces astrogliosis but accelerates cerebellar dysfunction and shortens life span in a mouse model of Sandhoff disease.
[So] Source:J Neuroimmunol;306:55-67, 2017 May 15.
[Is] ISSN:1872-8421
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Sandhoff disease is an inherited lysosomal storage disease, resulting from the deficiency of lysosomal ß-hexosaminidase A and B enzyme activity. The Hexb-/- mouse model recapitulates human disease and leads to fatal neurodegeneration and neuroinflammation. IL-15 is important for the proliferation of NK, NK T, and CD8 cytotoxic/memory T cells. In order to determine how changes to IL-15-dependent immune cell populations would alter the course of Sandhoff disease in mice, we generated a Hexb-/-Il-15-/- double knockout mouse and used motor behaviour tests, analyzed peripheral blood and brain leukocyte immunophenotypes, cytokine secretion, as well as examined markers of microgliosis, astrogliosis and apoptosis. Hexb-/-Il-15-/- mice had an accelerated neurodegenerative phenotype, and reached the humane endpoint at 118±3.5d, compared to Hexb-/- mice (127±2.2d). The performance of Hexb-/-Il-15-/- mice declined earlier than Hexb-/- mice on the rotarod and righting reflex motor behaviour tests. Hexb-/- mice had a significantly higher prevalence of pro-inflammatory monocytes in the blood relative to C57BL/6 mice, but this was unaltered by IL-15 deficiency. The prevalence of NK cells and CD8 T cells in Il-15-/- and Hexb-/-Il-15-/- mice was decreased compared to wild type and Hexb-/- mice. While Hexb-/- mice displayed an increase in the prevalence of CD4 and CD8 T cells in brain leukocytes compared to C57BL/6 mice, there was a decrease in CD8 T cells in Hexb-/-Il-15-/- compared to Hexb-/- mice. In addition, circulating IL-17 and IL-10 levels were significantly higher in Hexb-/-Il-15-/- mice, suggesting heightened inflammation compared to Hexb-/- mice. Interestingly, astrogliosis levels were significantly reduced in the cerebellum of Hexb-/-Il-15-/- mice compared to Hexb-/- mice while microgliosis was not affected in brains of Hexb-/-Il-15-/- mice. Our study demonstrated that IL-15 depletion dramatically reduced numbers of NK and CD8 T cells as well as astrocytes but accelerated disease progression in Sandhoff mice. These results pointed to interactions between NK/CD8 T cells and astrogliosis and potentially a protective role for NK/CD8 T cells and/or astrocytes during disease progression. This observation supports the notion that expanding the IL-15-dependent NK and CD8 T cells populations with IL-15 therapy may have therapeutic benefits for Sandhoff disease.
[Mh] Termos MeSH primário: Linfócitos T CD8-Positivos/patologia
Doenças Cerebelares/etiologia
Gliose/terapia
Células Matadoras Naturais/patologia
Doença de Sandhoff/complicações
Doença de Sandhoff/mortalidade
[Mh] Termos MeSH secundário: Animais
Antígenos CD/metabolismo
Apoptose/genética
Proliferação Celular/efeitos dos fármacos
Proliferação Celular/genética
Doenças Cerebelares/genética
Doenças Cerebelares/patologia
Modelos Animais de Doenças
Feminino
Regulação da Expressão Gênica/genética
Proteína Glial Fibrilar Ácida/metabolismo
Hexosaminidase B/genética
Hexosaminidase B/metabolismo
Interleucina-15/genética
Interleucina-15/metabolismo
Células Matadoras Naturais/metabolismo
Locomoção/genética
Masculino
Camundongos
Camundongos Endogâmicos C57BL
Camundongos Transgênicos
Transtornos dos Movimentos/etiologia
Transtornos dos Movimentos/genética
Doença de Sandhoff/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antigens, CD); 0 (Glial Fibrillary Acidic Protein); 0 (Interleukin-15); 0 (glial fibrillary astrocytic protein, mouse); EC 3.2.1.52 (Hexosaminidase B)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170408
[St] Status:MEDLINE


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[PMID]:27697305
[Au] Autor:Lee HF; Chi CS; Tsai CR
[Ad] Endereço:Department of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan; School of Medicine, Chung Shan Medical University, Taichung, Taiwan. Electronic address: leehf@hotmail.com.tw.
[Ti] Título:Early cardiac involvement in an infantile Sandhoff disease case with novel mutations.
[So] Source:Brain Dev;39(2):171-176, 2017 Feb.
[Is] ISSN:1872-7131
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: Hepatosplenomegaly is often present in infantile Sanshoff disease. However, cardiac involvement is extremely uncommon. CASE REPORT: We describe a 14-month-old female baby who exhibited mitral regurgitation and cardiomegaly at the age of 2months, dilation of the left atrium and left ventricle at age of 6months, followed by regression of developmental milestones after an episode of minor infection at age of 14months. Brain magnetic resonance imaging revealed signal changes over the bilateral thalami, bilateral cerebral white matter and left putamen. An examination of the fundus showed presence of cherry-red spots in both macular areas. The lysosomal enzymatic activities showed a marked reduction of ß-hexosaminidase B (HEXB) activity. Two novel mutations of HEXB gene were identified. One of the mutations was a c.1538 T>C mutation, which predicted a p.L513P amino acid substitution of leucine to proline; the other was a c.299+5 G>A mutation, which was a splice site mutation. CONCLUSION: Cardiac involvement might occur prior to neurological symptoms in infantile Sandhoff disease, and it should be included in the differential diagnoses of metabolic cardiomyopathies in the infantile stage.
[Mh] Termos MeSH primário: Cardiomiopatias/genética
Cardiomiopatias/fisiopatologia
Hexosaminidase B/genética
Mutação
Doença de Sandhoff/genética
Doença de Sandhoff/fisiopatologia
[Mh] Termos MeSH secundário: Encéfalo/diagnóstico por imagem
Cardiomiopatias/diagnóstico por imagem
Análise Mutacional de DNA
Diagnóstico Diferencial
Ecocardiografia
Feminino
Hexosaminidase B/metabolismo
Seres Humanos
Lactente
Imagem por Ressonância Magnética
Linhagem
Doença de Sandhoff/diagnóstico por imagem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.2.1.52 (Hexosaminidase B)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170214
[Lr] Data última revisão:
170214
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161005
[St] Status:MEDLINE


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[PMID]:25481446
[Au] Autor:Wang W; Jashnani A; Aluri SR; Gustafson JA; Hsueh PY; Yarber F; McKown RL; Laurie GW; Hamm-Alvarez SF; MacKay JA
[Ad] Endereço:Department of Pharmacology and Pharmaceutical Sciences, University of Southern California, Los Angeles, CA, United States.
[Ti] Título:A thermo-responsive protein treatment for dry eyes.
[So] Source:J Control Release;199:156-67, 2015 Feb 10.
[Is] ISSN:1873-4995
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Millions of Americans suffer from dry eye disease, and there are few effective therapies capable of treating these patients. A decade ago, an abundant protein component of human tears was discovered and named lacritin (Lacrt). Lacrt has prosecretory activity in the lacrimal gland and mitogenic activity at the corneal epithelium. Similar to other proteins placed on the ocular surface, the durability of its effect is limited by rapid tear turnover. Motivated by the rationale that a thermo-responsive coacervate containing Lacrt would have better retention upon administration, we have constructed and tested the activity of a thermo-responsive Lacrt fused to an elastin-like polypeptide (ELP). Inspired from the human tropoelastin protein, ELP protein polymers reversibly phase separate into viscous coacervates above a tunable transition temperature. This fusion construct exhibited the prosecretory function of native Lacrt as illustrated by its ability to stimulate ß-hexosaminidase secretion from primary rabbit lacrimal gland acinar cells. It also increased tear secretion from non-obese diabetic (NOD) mice, a model of autoimmune dacryoadenitis, when administered via intra-lacrimal injection. Lacrt ELP fusion proteins undergo temperature-mediated assembly to form a depot inside the lacrimal gland. We propose that these Lacrt ELP fusion proteins represent a potential therapy for dry eye disease and the strategy of ELP-mediated phase separation may have applicability to other diseases of the ocular surface.
[Mh] Termos MeSH primário: Síndromes do Olho Seco/tratamento farmacológico
Elastina/uso terapêutico
Glicoproteínas/uso terapêutico
Proteínas/uso terapêutico
[Mh] Termos MeSH secundário: Actinas/metabolismo
Animais
Dacriocistite/imunologia
Preparações de Ação Retardada
Elastina/química
Feminino
Glicoproteínas/química
Hexosaminidase B/metabolismo
Temperatura Alta
Seres Humanos
Técnicas In Vitro
Aparelho Lacrimal/metabolismo
Masculino
Camundongos Endogâmicos C57BL
Camundongos Endogâmicos NOD
Cultura Primária de Células
Proteínas/química
Coelhos
Proteínas Recombinantes de Fusão
Lágrimas/secreção
Transcitose
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T; RESEARCH SUPPORT, U.S. GOV'T, NON-P.H.S.
[Nm] Nome de substância:
0 (Actins); 0 (Delayed-Action Preparations); 0 (Glycoproteins); 0 (LACRT protein, human); 0 (Proteins); 0 (Recombinant Fusion Proteins); 9007-58-3 (Elastin); EC 3.2.1.52 (Hexosaminidase B)
[Em] Mês de entrada:1602
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:141208
[St] Status:MEDLINE


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[PMID]:24915922
[Au] Autor:Huang Y; Xie T; Zheng J; Zhao X; Liu H; Liu L
[Ad] Endereço:Department of Endocrinology and Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou 510623, China.
[Ti] Título:[Clinical and molecular characteristics of a child with juvenile Sandhoff disease].
[So] Source:Zhonghua Er Ke Za Zhi;52(4):313-6, 2014 Apr.
[Is] ISSN:0578-1310
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To explore the clinical features and molecular mutation of HEXB gene in a case with juvenile Sandhoff disease. METHOD: We retrospectively reviewed the clinical, neuroimaging and biochemical findings in this Chinese child with juvenile Sandhoff disease. Hexosaminidase A and hexosaminidase A & B activities were measured in blood leukocytes by fluorometric assay. HEXB gene molecular analysis was performed by PCR and direct sequencing. RESULT: The 9-year-old boy was admitted for psychomotor regression. He presented slowly progressive gait disorder and dysarthria during the last three years. Cranial MRI revealed a marked cerebellar atrophy with normal intensity in the thalamus and basal ganglia. Brain MRS showed normal in the thalamus and basal ganglia. Hexosaminidase A was 69.5 (mg·h) [normal controls 150-360 nmol/(mg·h)], hexosaminidase A & B activity was 119 nmol/(mg·h)[normal controls 600-3 500 nmol/(mg·h)], confirming the diagnosis of Sandhoff disease. The patient was a compound heterozygote for a novel deletion mutation c.1404delT (p. P468P fsX62) and a reported mutation c.1509-26G>A. CONCLUSION: The clinical features of juvenile Sandhoff disease include ataxia, dysarthria and cerebellar atrophy. The enzyme assay and molecular analysis of HEXB gene can confirm the diagnosis of Sandhoff disease. The novel mutation c.1404delT(p. P468P fsX62) is a disease-related mutation.
[Mh] Termos MeSH primário: Mutação
Doença de Sandhoff/diagnóstico
Doença de Sandhoff/genética
Cadeia beta da beta-Hexosaminidase/genética
[Mh] Termos MeSH secundário: Encéfalo/diagnóstico por imagem
Encéfalo/patologia
Ataxia Cerebelar/diagnóstico
Ataxia Cerebelar/enzimologia
Ataxia Cerebelar/genética
Criança
Análise Mutacional de DNA
Heterozigoto
Hexosaminidase A/sangue
Hexosaminidase A/metabolismo
Hexosaminidase B/sangue
Hexosaminidase B/metabolismo
Seres Humanos
Leucócitos/enzimologia
Imagem por Ressonância Magnética
Masculino
Radiografia
Estudos Retrospectivos
Doença de Sandhoff/enzimologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
EC 3.2.1.52 (HEXB protein, human); EC 3.2.1.52 (Hexosaminidase A); EC 3.2.1.52 (Hexosaminidase B); EC 3.2.1.52 (beta-Hexosaminidase beta Chain)
[Em] Mês de entrada:1410
[Cu] Atualização por classe:161125
[Lr] Data última revisão:
161125
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:140612
[St] Status:MEDLINE


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[PMID]:24910985
[Au] Autor:Umemoto EY; Speck M; Shimoda LM; Kahue K; Sung C; Stokes AJ; Turner H
[Ad] Endereço:Laboratory of Immunology and Signal Transduction, Division of Natural Sciences and Mathematics, Chaminade University, Honolulu, HI, United States.
[Ti] Título:Single-walled carbon nanotube exposure induces membrane rearrangement and suppression of receptor-mediated signalling pathways in model mast cells.
[So] Source:Toxicol Lett;229(1):198-209, 2014 Aug 17.
[Is] ISSN:1879-3169
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Carbon nanotubes (CNT) are environmental challenges to the respiratory and gastrointestinal mucosa, and to the dermal immune system. Mast cells (MC) are pro-inflammatory immunocytes that reside at these interfaces with the environment. Mast cells are sources of pro-inflammatory mediators (histamine, serotonin, matrix-active proteases, eicosanoids, prostanoids, cytokines and chemokines), which are released in a calcium-dependent manner following immunological challenge or physico-chemical stimulation. Since C-60 fullerenes, which share geometry with CNT, are suppressive of mast cell-driven inflammatory responses, we explored the effects of unmodified SWCNT aggregates on mast cell signaling pathways, phenotype and pro-inflammatory function. We noted SWCNT suppression of antigen-induced signalling pathways and pro-inflammatory degranulation responses. Mast cells recognize unmodified SWCNT by remodeling the plasma membrane, disaggregating the cortical actin cytoskeleton and relocalizing clathrin. Clathrin was also identified as a component of an affinity-purified 'interactome' isolated from MC using an SWCNT affinity matrix for mast cell lysates. Together, these data are consistent with the ability of SWCNT to suppress mast cell pro-inflammatory function via a novel recognition mechanism.
[Mh] Termos MeSH primário: Membrana Celular/efeitos dos fármacos
Mastócitos/efeitos dos fármacos
Nanotubos de Carbono/toxicidade
Receptores de IgE/metabolismo
Transdução de Sinais/efeitos dos fármacos
[Mh] Termos MeSH secundário: Sequência de Aminoácidos
Western Blotting
Cálcio/metabolismo
Sinalização do Cálcio/efeitos dos fármacos
Linhagem Celular
Membrana Celular/ultraestrutura
Clatrina/metabolismo
Citoesqueleto/efeitos dos fármacos
Fulerenos/toxicidade
Hexosaminidase B/metabolismo
Seres Humanos
Imuno-Histoquímica
Mastócitos/ultraestrutura
Microscopia Eletrônica
Dados de Sequência Molecular
Receptores de IgE/efeitos dos fármacos
Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por Matriz
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T; RESEARCH SUPPORT, U.S. GOV'T, NON-P.H.S.
[Nm] Nome de substância:
0 (Clathrin); 0 (Fullerenes); 0 (Nanotubes, Carbon); 0 (Receptors, IgE); EC 3.2.1.52 (Hexosaminidase B); SY7Q814VUP (Calcium)
[Em] Mês de entrada:1409
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:140610
[St] Status:MEDLINE


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[PMID]:24484945
[Au] Autor:Chojnowska S; Minarowska A; Waszkiewicz N; Kepka A; Zalewska-Szajda B; Goscik E; Kowal K; Olszewska E; Konarzewska-Duchnowska E; Minarowski L; Zwierz K; Ladny JR; Szajda SD
[Ad] Endereço:Medical Institute, College of Computer Science and Business Administration, Lomza, Poland. Electronic address: schojnowska@pwsip.edu.pl.
[Ti] Título:The activity of N-acetyl-ß-d-hexosaminidase A and B and ß-glucuronidase in nasal polyps and hypertrophic nasal concha.
[So] Source:Otolaryngol Pol;68(1):20-4, 2014 Jan-Feb.
[Is] ISSN:2300-8423
[Cp] País de publicação:Poland
[La] Idioma:eng
[Ab] Resumo:UNLABELLED: Nasal polyps and hypertrophic lower nasal conchae are common disorders of nasal cavity. The majority of etiopathogenetic theories indicate inflammatory background of polyps and hypertrophic concha. N-acetyl-ß-D-hexosaminidase and ß-glucuronidase are lysosomal exoglycosidases revealing accelerated activity in inflammatory processes. AIM: The aim of the study was to evaluate the catabolism of glycoconjugates in nasal polyps and hypertrophic nasal concha basing on the activity of N-acetyl-ß-D-hexosaminidase (HEX) and ß-glucuronidase (GLU). MATERIAL AND METHODS: Material consisted of nasal polyps taken from 40 patients during polypectomy in patients with chronic rhinosinusitis with nasal polyps (CRSwNP) and hypertrophic lower nasal conchae taken from 20 patients during mucotomy. The activity of HEX, HEX A, HEX B and GLU in supernatant of homogenates of nasal polyps and hypertrophic lower nasal concha tissues has been estimated using colorimetric method. RESULTS: Statistically significant decrease has been observed in concentration of the activity (per 1mg of tissue) of HEX (p<0.05), HEX B (p<0.001) and specific activity (per 1mg of protein) of HEX B (p<0.001) in nasal polyps tissue in comparison to hypertrophic lower nasal conchae tissue. CONCLUSIONS: Decrease in the activity and specific activity concentration of the majority of examined lysosomal exoglycosidases (increasing in inflammations) in comparison to hypertrophic lower nasal conchae suggests electrolytes disorders and questions the inflammatory background of nasal polyps.
[Mh] Termos MeSH primário: Glucuronidase/metabolismo
Hexosaminidase A/metabolismo
Hexosaminidase B/metabolismo
Pólipos Nasais/enzimologia
Conchas Nasais/enzimologia
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Feminino
Seres Humanos
Hipertrofia/enzimologia
Masculino
Meia-Idade
Conchas Nasais/patologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
EC 3.2.1.31 (Glucuronidase); EC 3.2.1.52 (Hexosaminidase A); EC 3.2.1.52 (Hexosaminidase B)
[Em] Mês de entrada:1511
[Cu] Atualização por classe:140203
[Lr] Data última revisão:
140203
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:140204
[St] Status:MEDLINE


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[PMID]:24356898
[Au] Autor:Chiricozzi E; Niemir N; Aureli M; Magini A; Loberto N; Prinetti A; Bassi R; Polchi A; Emiliani C; Caillaud C; Sonnino S
[Ad] Endereço:Department of Medical Biotechnology and Translational Medicine, University of Milano, Via F.lli Cervi 93, 20090, Segrate, Italy, elena.chiricozzi@unimi.it.
[Ti] Título:Chaperone therapy for GM2 gangliosidosis: effects of pyrimethamine on ß-hexosaminidase activity in Sandhoff fibroblasts.
[So] Source:Mol Neurobiol;50(1):159-67, 2014 Aug.
[Is] ISSN:1559-1182
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Sphingolipidoses are inherited genetic diseases due to mutations in genes encoding proteins involved in the lysosomal catabolism of sphingolipids. Despite a low incidence of each individual disease, altogether, the number of patients involved is relatively high and resolutive approaches for treatment are still lacking. The chaperone therapy is one of the latest pharmacological approaches to these storage diseases. This therapy allows the mutated protein to escape its natural removal and to increase its quantity in lysosomes, thus partially restoring the metabolic functions. Sandhoff disease is an autosomal recessive inherited disorder resulting from ß-hexosaminidase deficiency and characterized by large accumulation of GM2 ganglioside in brain. No enzymatic replacement therapy is currently available, and the use of inhibitors of glycosphingolipid biosynthesis for substrate reduction therapy, although very promising, is associated with serious side effects. The chaperone pyrimethamine has been proposed as a very promising drug in those cases characterized by a residual enzyme activity. In this review, we report the effect of pyrimethamine on the recovery of ß-hexosaminidase activity in cultured fibroblasts from Sandhoff patients.
[Mh] Termos MeSH primário: Fibroblastos/efeitos dos fármacos
Hexosaminidase B/metabolismo
Chaperonas Moleculares/farmacologia
Pirimetamina/farmacologia
Doença de Sandhoff/tratamento farmacológico
[Mh] Termos MeSH secundário: Fibroblastos/enzimologia
Seres Humanos
Chaperonas Moleculares/uso terapêutico
Pirimetamina/uso terapêutico
Doença de Sandhoff/enzimologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Molecular Chaperones); EC 3.2.1.52 (Hexosaminidase B); Z3614QOX8W (Pyrimethamine)
[Em] Mês de entrada:1506
[Cu] Atualização por classe:171108
[Lr] Data última revisão:
171108
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:131221
[St] Status:MEDLINE
[do] DOI:10.1007/s12035-013-8605-5


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[PMID]:23894776
[Au] Autor:Raczkowska K; Zalewska-Szajda B; Chojnowska S; Kepka A; Raczkowski K; Waszkiewicz N; Siedlecka-Czykier E; Dadan J; Snarska J; Zwierz K; Ladny JR; Szajda SD
[Ad] Endereço:Wyzsza Szkola Zawodowa Ochrony Zdrowia Towarzystwa Wiedzy Powszechnej w Lomzy. kasied@o2.pl
[Ti] Título:[Isoforms A and B of lysosomal N-acetyl-beta-D-hexosaminidase in serum and urine of parenterally fed patients].
[Ti] Título:Izoenzymy A i B lizosomalnej N-acetylo-beta-D-heksozoaminidazy w surowicy i moczu chorych zywionych pozajelitowo..
[So] Source:Pol Merkur Lekarski;34(203):259-62, 2013 May.
[Is] ISSN:1426-9686
[Cp] País de publicação:Poland
[La] Idioma:pol
[Ab] Resumo:UNLABELLED: Parenteral nutrition entails numerous metabolic complications resulting from food bypass of the gastrointestinal tract. Up to now have not been established all complications of parenteral nutrition, despite intensive research and clinical observations. Knowledge of the biochemical changes resulting from parenteral nutrition is essential to effective prevention, early detection and effective treatment of the metabolic disorders induced by parenteral nutrition. The aim of the study was to evaluate the catabolism of glycoconjugates of parenterally fed patients, reflected by the activity of N-acetyl-beta-D-hexosaminidase (HEX): HEX A and HEX B isoenzymes in serum and urine. MATERIAL AND METHODS: Samples of blood and urine were collected from 23 patients: before intravenous alimentation, at start, as well as of fifth and tenth day of parenteral nutrition. The activity of HEX A and HEX B in serum and urine was determined by the colorimetric method of Zwierz et al. as modified by Marciniak et al. The activity of urinary HEXA and HEX B has been calculated per 1 mg of creatinine. RESULTS: The activity of serum HEXA significantly decreased at fifth day, in comparison to the activity before parenteral alimentation, and significantly increased at tenth day of parenteral nutrition. The activity of HEX B in serum increased significantly at fifth and tenth day of the parenteral nutrition. CONCLUSIONS: Parenteral nutrition alter the catabolism of glycoconjugates, reflected by significant changes in serum HEX A and HEX B activities. Urine was the not appropriate material to evaluate the catabolism of glycoconjugates in view of HEX A and HEX B activities.
[Mh] Termos MeSH primário: Hexosaminidase A/sangue
Hexosaminidase A/urina
Hexosaminidase B/sangue
Hexosaminidase B/urina
Nutrição Parenteral
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Feminino
Seres Humanos
Masculino
Doenças Metabólicas/etiologia
Doenças Metabólicas/metabolismo
Doenças Metabólicas/prevenção & controle
Meia-Idade
Nutrição Parenteral/efeitos adversos
Adulto Jovem
[Pt] Tipo de publicação:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.2.1.52 (Hexosaminidase A); EC 3.2.1.52 (Hexosaminidase B)
[Em] Mês de entrada:1308
[Cu] Atualização por classe:130730
[Lr] Data última revisão:
130730
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:130731
[St] Status:MEDLINE


  9 / 232 MEDLINE  
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[PMID]:23470754
[Au] Autor:Venugopal A; Sivakumar N
[Ad] Endereço:Protein Biochemistry and Glycobiology Laboratory, Department of Biochemistry, University of Hyderabad, India.
[Ti] Título:Isolation, purification, and biochemical characterization of two forms of lysosomal ß-N-acetylhexosaminidase from the invertebrate Unio.
[So] Source:Biosci Biotechnol Biochem;77(3):497-504, 2013.
[Is] ISSN:1347-6947
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Lysosomal hexosaminidases are glycosyl hydrolases that remove the terminal hexosamine residues of glycoconjugates. Though mammalian hexosaminidases are well characterized, the biochemical nature of these enzymes among invertebrates remains elusive. In this study, we purified two thermostable N-acetyl ß-D-hexosaminidases (hex A and B) to homogeneity from soluble extracts of whole Unio animal tissue by a combination of chromatographic procedures. Purified hex A and hex B migrated as a single protein species on native PAGE and exhibited enzyme activity. However on SDS-PAGE, hex A dissociated into two subunits of molecular masses about 75 kDa and 30 kDa respectively, while hex B showed a molecular mass of 40 kDa. Hex A and B were recognized by the affinity purified mannose 6-phosphate receptor 46 on ligand blot analysis. This specific interaction was similar to what is known for the vertebrate receptors and lysosomal enzymes. The enzymes showed different K(M) values with respect to the substrates p-nitrophenyl N-acetyl-ß-D-glucosaminide and p-nitrophenyl N-acetyl-ß-D-galactosaminide. The enzymes were thermally stable up to 80 °C and showed pH optima between 5.0 and 6.0. This is the first report on the purification of two forms of hexosaminidases from Unio.
[Mh] Termos MeSH primário: Hexosaminidase A/isolamento & purificação
Hexosaminidase A/metabolismo
Hexosaminidase B/isolamento & purificação
Hexosaminidase B/metabolismo
Lisossomos/enzimologia
Unio/citologia
Unio/enzimologia
[Mh] Termos MeSH secundário: Animais
Hexosaminidase A/química
Hexosaminidase B/química
Concentração de Íons de Hidrogênio
Cinética
Manosefosfatos/metabolismo
Solubilidade
Temperatura Ambiente
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Mannosephosphates); 3672-15-9 (mannose-6-phosphate); EC 3.2.1.52 (Hexosaminidase A); EC 3.2.1.52 (Hexosaminidase B)
[Em] Mês de entrada:1309
[Cu] Atualização por classe:130325
[Lr] Data última revisão:
130325
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:130309
[St] Status:MEDLINE


  10 / 232 MEDLINE  
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[PMID]:23266199
[Au] Autor:Sanders DN; Zeng R; Wenger DA; Johnson GS; Johnson GC; Decker JE; Katz ML; Platt SR; O'Brien DP
[Ad] Endereço:Mason Eye Institute, University of Missouri School of Medicine, Columbia, MO 65211, USA.
[Ti] Título:GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin dogs: a potential model for Tay Sachs disease.
[So] Source:Mol Genet Metab;108(1):70-5, 2013 Jan.
[Is] ISSN:1096-7206
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:GM2 gangliosidosis is a fatal lysosomal storage disease caused by a deficiency of ß-hexosaminidase (EC 3.2.1.52). There are two major isoforms of the enzyme: hexosaminidase A composed of an α and a ß subunit (encoded by HEXA and HEXB genes, respectively); and, hexosaminidase B composed of two ß subunits. Hexosaminidase A requires an activator protein encoded by GM2A to catabolize GM2 ganglioside, but even in the absence of the activator protein, it can hydrolyze the synthetic substrates commonly used to assess enzyme activity. GM2 gangliosidosis has been reported in Japanese Chin dogs, and we identified the disease in two related Japanese Chin dogs based on clinical signs, histopathology and elevated brain GM2 gangliosides. As in previous reports, we found normal or elevated hexosaminidase activity when measured with the synthetic substrates. This suggested that the canine disease is analogous to human AB variant of G(M2) gangliosidosis, which results from mutations in GM2A. However, only common neutral single nucleotide polymorphisms were found upon sequence analysis of the canine ortholog of GM2A from the affected Japanese Chins. When the same DNA samples were used to sequence HEXA, we identified a homozygous HEXA:c967G>A transition which predicts a p.E323K substitution. The glutamyl moiety at 323 is known to make an essential contribution to the active site of hexosaminidase A, and none of the 128 normal Japanese Chins and 92 normal dogs of other breeds that we tested was homozygous for HEXA:c967A. Thus it appears that the HEXA:c967G>A transition is responsible for the GM2 gangliosidosis in Japanese Chins.
[Mh] Termos MeSH primário: Modelos Animais de Doenças
Doenças do Cão/genética
Gangliosidoses GM2/genética
Hexosaminidase B/genética
Mutação de Sentido Incorreto
[Mh] Termos MeSH secundário: Animais
Sequência de Bases
Sondas de DNA
Cães
Feminino
Masculino
Linhagem
Reação em Cadeia da Polimerase
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (DNA Probes); EC 3.2.1.52 (Hexosaminidase B)
[Em] Mês de entrada:1306
[Cu] Atualização por classe:130102
[Lr] Data última revisão:
130102
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:121226
[St] Status:MEDLINE



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