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Pesquisa : D08.811.277.450.410.050 [Categoria DeCS]
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[PMID]:29289886
[Au] Autor:Li HY; Lee JD; Chen CW; Sun YC; Cheng WC
[Ad] Endereço:Genomics Research Center, Academia Sinica, 128, Academia Road, Section 2, Nankang, Taipei 115, Taiwan; Institute of Biochemistry and Molecular Biology, National Yang-Ming University, 155, Linong Street, Section 2, Taipei 112, Taiwan.
[Ti] Título:Synthesis of (3S,4S,5S)-trihydroxylpiperidine derivatives as enzyme stabilizers to improve therapeutic enzyme activity in Fabry patient cell lines.
[So] Source:Eur J Med Chem;144:626-634, 2018 Jan 20.
[Is] ISSN:1768-3254
[Cp] País de publicação:France
[La] Idioma:eng
[Ab] Resumo:A series of 3S,4S,5S-trihydroxylated piperidines bearing structural diversity at C-2 or C-6 positions has been synthesized and tested to determine their ability to stabilize the activity of recombinant human α-Galactosidase A (rh-α-Gal A). Hit molecules were identified by rapid inhibitory activity screening, and then further investigated for their ability to protect this enzyme from thermo-induced denaturation and enhance its activity in Fabry patient cell lines. Our study resulted in the identification of a new class of small molecules as enzyme stabilizers for the potential treatment of Fabry disease. Of these, stabilizer 21 was the most effective, showing a 12-fold increase in rh-α-Gal A activity in Fabry disease cell lines.
[Mh] Termos MeSH primário: Inibidores Enzimáticos/farmacologia
Doença de Fabry/tratamento farmacológico
Piperidinas/farmacologia
alfa-Galactosidase/antagonistas & inibidores
[Mh] Termos MeSH secundário: Linhagem Celular
Relação Dose-Resposta a Droga
Inibidores Enzimáticos/síntese química
Inibidores Enzimáticos/química
Estabilidade Enzimática
Doença de Fabry/metabolismo
Doença de Fabry/patologia
Seres Humanos
Estrutura Molecular
Piperidinas/síntese química
Piperidinas/química
Proteínas Recombinantes/metabolismo
Relação Estrutura-Atividade
alfa-Galactosidase/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Enzyme Inhibitors); 0 (Piperidines); 0 (Recombinant Proteins); EC 3.2.1.22 (alpha-Galactosidase); EC 3.2.1.22 (alpha-galactosidase A, human)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180302
[Lr] Data última revisão:
180302
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180101
[St] Status:MEDLINE


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[PMID]:29363955
[Au] Autor:Oh SY; Youn SY; Park MS; Baek NI; Ji GE
[Ad] Endereço:Department of Food and Nutrition, Research Institute of Human Ecology, Seoul National University , Seoul 151-742, Republic of Korea.
[Ti] Título:Synthesis of Stachyobifiose Using Bifidobacterial α-Galactosidase Purified from Recombinant Escherichia coli.
[So] Source:J Agric Food Chem;66(5):1184-1190, 2018 Feb 07.
[Is] ISSN:1520-5118
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The prebiotic effects of GOS (galactooligosaccharides) are known to depend on the glycosidic linkages, degree of polymerization (DP), and the monosaccharide composition. In this study, a novel form of α-GOS with a potentially improved prebiotic effect was synthesized using bifidobacterial α-galactosidase (α-Gal) purified from recombinant Escherichia coli. The carbohydrate produced was identified as α-d-galactopyranosyl-(1→6)-O-α-d-glucopyranosyl-(1→2)-[α-d-galactopyranosyl-(1→6)-O-ß-d-fructofuranoside] and was termed stachyobifiose. Among 17 nonprobiotics, 16 nonprobiotics showed lower growth on stachyobifiose than ß-GOS. In contrast, among the 16 probiotics, 6 probiotics showed higher growth on stachyobifiose than ß-GOS. When compared with raffinose, stachyobifiose was used less by nonprobiotics than raffinose. Moreover, compared with stachyose, stachyobifiose was used less by Escherichia coli, Enterobacter cloacae, and Clostridium butyricum. The average amounts of total short-chain fatty acids (SCFA) produced were in the order of stachyobifiose > stachyose > raffinose > ß-GOS. Taken together, stachyobifiose is expected to contribute to beneficial changes of gut microbiota.
[Mh] Termos MeSH primário: Bifidobacterium/enzimologia
Microbioma Gastrointestinal/fisiologia
Oligossacarídeos/biossíntese
Prebióticos
Proteínas Recombinantes/metabolismo
alfa-Galactosidase/metabolismo
[Mh] Termos MeSH secundário: Bactérias/crescimento & desenvolvimento
Escherichia coli/enzimologia
Escherichia coli/genética
Galactose/metabolismo
Oligossacarídeos/metabolismo
Probióticos
Rafinose/metabolismo
alfa-Galactosidase/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Oligosaccharides); 0 (Prebiotics); 0 (Recombinant Proteins); 25VX64653N (stachyose); EC 3.2.1.22 (alpha-Galactosidase); N5O3QU595M (Raffinose); X2RN3Q8DNE (Galactose)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180226
[Lr] Data última revisão:
180226
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180125
[St] Status:MEDLINE
[do] DOI:10.1021/acs.jafc.7b04703


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[PMID]:28456989
[Au] Autor:Sozmen EY; Sezer ED
[Ad] Endereço:Department of Medical Biochemistry and Metabolism Laboratory, Ege University Faculty of Medicine, Izmir, Turkey. eser.sozmen@ege.edu.tr.
[Ti] Título:Methods for Determination of α-Glycosidase, ß-Glycosidase, and α-Galactosidase Activities in Dried Blood Spot Samples.
[So] Source:Methods Mol Biol;1594:255-264, 2017.
[Is] ISSN:1940-6029
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The lysosomal storage diseases (LDSs) are a heterogeneous group of inherited genetic disorders caused by defects of lysosomal proteins. The accumulation of undigested substrates from different catabolic pathways leads to cellular dysfunction. LSDs generally presents during early childhood and have a devastating impact on the families and on public health. Over the years, approaches for treatment of some LSDs have been developed with different strategies. Increasing availability of treatments of these diseases has accelerated the development of new methods and techniques for rapid diagnosis in patients with clinical indication.The use of dried blood spot (DBS) test has been proposed as a first tier test to identify patients with Gaucher, Pompe, and Fabry diseases. DBS usage is advantageous for the purpose of screening as it is non-invasive, sensitive, has low-cost and fast turnaround time compared to measurements in leucocyte and/or fibroblast culture. This chapter focuses on the activity measurement of three lysosomal enzymes (α-glucosidase, ß-glucosidase, and α galactosidase) in DBS samples by using fluorescent substrates and by the LC-MS/MS (liquid chromatography-mass spectrometry) method. All steps of the methods, from preparation of the solutions to calculation of the enzyme activity, will be explained in detail.
[Mh] Termos MeSH primário: Teste em Amostras de Sangue Seco/métodos
Doenças por Armazenamento dos Lisossomos/enzimologia
alfa-Galactosidase/sangue
alfa-Glucosidases/sangue
[Mh] Termos MeSH secundário: Seres Humanos
Recém-Nascido
Isoenzimas/sangue
Doenças por Armazenamento dos Lisossomos/sangue
Doenças por Armazenamento dos Lisossomos/diagnóstico
Triagem Neonatal
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Isoenzymes); 2HLC17MX9G (agalsidase alfa); EC 3.2.1.20 (alpha-Glucosidases); EC 3.2.1.22 (alpha-Galactosidase)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180212
[Lr] Data última revisão:
180212
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170501
[St] Status:MEDLINE
[do] DOI:10.1007/978-1-4939-6934-0_17


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[PMID]:29235819
[Au] Autor:Olkhovych NV; Gorovenko NG
[Ti] Título:Determination of frequencies of alleles, associated with the pseudodeficiency of lysosomal hydrolases, in population of Ukraine.
[So] Source:Ukr Biochem J;88(5):96-106, 2016 Sep-Oct.
[Is] ISSN:2409-4943
[Cp] País de publicação:Ukraine
[La] Idioma:eng
[Ab] Resumo:The pseudodeficiency of lysosomal hydrolases described as a significant reduction in enzyme activi­ty in vitro in clinically healthy individuals, can lead to diagnostic errors in the process of biochemical analysis of lysosomal storage disease in case of its combination with pathology of another origin. Pseudodeficiency is mostly caused by some non-pathogenic changes in the corresponding gene. These changes lead to the in vitro lability of the enzyme molecule, whereas in vivo the enzyme retains its functional activity. To assess the prevalence of the most common lysosomal hydrolases pseudodeficiency alleles in Ukraine, we have determined the frequency of alleles c.1055A>G and c.* 96A>G in the ARSA gene, substitutions c.739C>T (R247W) and c.745C>T (R249W) in the HEXA gene, c.1726G>A (G576S) and c.2065G>A (E689K) in the GAA gene, c.937G>T (D313Y) in the GLA1 gene and c.898G>A (A300T) in the IDUA gene in a group of 117 healthy individuals from different regions of the country and 14 heterozygous carriers of pathogenic mutations in the HEXA gene (parents of children with confirmed diagnosis of Tay-Sachs disease). The total frequency of haplotypes, associated with arylsulfatase A pseudodeficiency, in healthy people in Ukraine (c.1055G/c.*96G and c.1055G/c.*96A haplotypes) was 10.3%. The frequency of c.739C>T (R247W) allele, associated with hexo­saminidase A pseudodeficiency, among Tay-Sachs carriers from Ukraine was 7.1%. The total frequency of α-glucosidase pseudodeficiency haplotypes in healthy individuals in Ukraine (c.1726A/c.2065A and c.1726G/c.2065A haplotypes) was 2.6%. No person among examined individuals with the substitution c.937G>T (D313Y) in the GLA1 gene and c.898G>A (A300T) in the IDUA gene was found. The differential diagnostics of lysosomal storage diseases requires obligatory determination of the presence of the pseudodeficiency alleles, particularly the ones with high incidence in the total population. Ignoring phenomenon of pseudodeficiency may lead to serious diagnostic errors.
[Mh] Termos MeSH primário: Cerebrosídeo Sulfatase/genética
Frequência do Gene
Iduronidase/genética
Doenças por Armazenamento dos Lisossomos/genética
alfa-Galactosidase/genética
alfa-Glucosidases/genética
Cadeia alfa da beta-Hexosaminidase/genética
[Mh] Termos MeSH secundário: Adulto
Alelos
Doenças Assintomáticas
Cerebrosídeo Sulfatase/deficiência
Criança
Diagnóstico Diferencial
Erros de Diagnóstico
Feminino
Expressão Gênica
Haplótipos
Seres Humanos
Iduronidase/deficiência
Doenças por Armazenamento dos Lisossomos/diagnóstico
Doenças por Armazenamento dos Lisossomos/enzimologia
Doenças por Armazenamento dos Lisossomos/epidemiologia
Lisossomos/enzimologia
Masculino
Mutação
Ucrânia/epidemiologia
alfa-Glucosidases/deficiência
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.1.6.8 (Cerebroside-Sulfatase); EC 3.2.1.20 (GAA protein, human); EC 3.2.1.20 (alpha-Glucosidases); EC 3.2.1.22 (alpha-Galactosidase); EC 3.2.1.52 (HEXA protein, human); EC 3.2.1.52 (beta-Hexosaminidase alpha Chain); EC 3.2.1.76 (IDUA protein, human); EC 3.2.1.76 (Iduronidase)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180116
[Lr] Data última revisão:
180116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171214
[St] Status:MEDLINE
[do] DOI:10.15407/ubj88.05.096


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[PMID]:27773586
[Au] Autor:Nowak A; Mechtler TP; Desnick RJ; Kasper DC
[Ad] Endereço:Department of Internal Medicine, University Hospital Zurich and University of Zurich, Rämistrasse 100, 8091 Zürich, Switzerland. Electronic address: albina.nowak@usz.ch.
[Ti] Título:Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes.
[So] Source:Mol Genet Metab;120(1-2):57-61, 2017 Jan - Feb.
[Is] ISSN:1096-7206
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Fabry disease (FD) is a rare X-linked lysosomal storage disorder due to mutations in the α-galactosidase A gene (GLA) that result in absent or markedly reduce α-galactosidase A (α-GalA) enzymatic activity. As a result, the major glycosphingolipid substrates, globotriaosylceramide (Gb3) and globotriaosylsphingosine (LysoGb3) accumulate in plasma, urine and tissue lysosomes. In females, the diagnosis can be complicated by the fact that 40-50% of GLA-mutation confirmed heterozygotes have normal or only slightly decreased leukocyte α-GalA activities. Recently, LysoGb3 has been appreciated as a novel FD biomarker, especially for therapeutic monitoring. METHODS: Among our GLA-mutation proven FD patients, we screened 18 heterozygotes whose leukocyte α-GalA activity was determined at initial diagnosis. For these females, we measured their serum LysoGb3 levels using highly-sensitive electrospray ionization liquid chromatography tandem mass spectrometry. RESULTS: We identified three unrelated females in whom the accumulating LysoGb3 was increased, whereas their leukocyte α-GalA activities were in the normal range. CONCLUSION: LysoGb3 serves as an useful biomarker to improve the diagnosis of FD heterozygotes and for therapeutic evaluation and monitoring.
[Mh] Termos MeSH primário: Biomarcadores/sangue
Doença de Fabry/diagnóstico
Glicolipídeos/sangue
Esfingolipídeos/sangue
alfa-Galactosidase/genética
[Mh] Termos MeSH secundário: Adulto
Criança
Cromatografia Líquida
Doença de Fabry/genética
Doença de Fabry/metabolismo
Feminino
Heterozigoto
Seres Humanos
Meia-Idade
Mutação
Espectrometria de Massas por Ionização por Electrospray
alfa-Galactosidase/sangue
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (Glycolipids); 0 (Sphingolipids); 126550-86-5 (globotriaosyl lysosphingolipid); EC 3.2.1.22 (alpha-Galactosidase); EC 3.2.1.22 (alpha-galactosidase A, human)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171211
[Lr] Data última revisão:
171211
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161025
[St] Status:MEDLINE


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[PMID]:27775867
[Au] Autor:Fischer J; Eberlein B; Hilger C; Eyer F; Eyerich S; Ollert M; Biedermann T
[Ad] Endereço:Department of Dermatology, Faculty of Medicine, Eberhard Karls University Tuebingen, Tuebingen, Germany.
[Ti] Título:Alpha-gal is a possible target of IgE-mediated reactivity to antivenom.
[So] Source:Allergy;72(5):764-771, 2017 May.
[Is] ISSN:1398-9995
[Cp] País de publicação:Denmark
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Antivenoms are mammalian immunoglobulins with the ability to neutralize snake venom components and to mitigate the progression of toxic effects. Immediate hypersensitivity to antivenoms often occurs during the first administration of these heterologous antibodies. A comparable clinical situation occurred after introduction of cetuximab, a chimeric mouse-human antibody, for cancer treatment. The carbohydrate epitope galactose-alpha-1,3-galactose, located on the Fab region of cetuximab, was identified as the target responsible for IgE reactivity. OBJECTIVE: To investigate whether serum IgE antibodies directed to the α-gal epitope are associated with hypersensitivity to equine antivenoms. METHODS: Antivenoms were screened for α-gal epitopes via immunoblot and in comparison with cetuximab and pork kidney by IgE reactivity assays. Basophil activation tests were used to investigate reactivity to antivenoms in samples from 20 patients with specific IgE antibodies to α-gal and 10 controls. Additional IgE detection, IgE inhibition, ImmunoCAP inhibition, and skin prick tests were performed using samples from selected patients. RESULTS: Both antivenoms and cetuximab induced positive skin prick test results in patients with sIgE to α-gal. Alpha-gal epitopes were detected by immunoblotting on antivenoms. Measurements of IgE reactivity and ImmunoCAP inhibition indicated that the antivenoms contained lower α-gal contents than cetuximab. Deglycosylation assays and IgE inhibition tests confirmed that IgE-mediated reactivity to antivenom is associated with α-gal. Antivenoms, pork kidney, and cetuximab activated basophils from patients with IgE to α-gal. CONCLUSION: Alpha-gal is a potential target of IgE-mediated reactivity to equine antivenom and a possible cause of the high incidence of hypersensitivity reactions during the first application of equine antivenom.
[Mh] Termos MeSH primário: Antivenenos/imunologia
Hipersensibilidade Imediata/imunologia
Imunoglobulina E/imunologia
alfa-Galactosidase/imunologia
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Animais
Basófilos/imunologia
Basófilos/metabolismo
Biomarcadores
Cetuximab/efeitos adversos
Relação Dose-Resposta Imunológica
Epitopos/imunologia
Feminino
Cavalos
Seres Humanos
Hipersensibilidade Imediata/diagnóstico
Hipersensibilidade Imediata/metabolismo
Masculino
Meia-Idade
Testes Cutâneos
Tetraspanina 30/metabolismo
Tireoglobulina/imunologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antivenins); 0 (Biomarkers); 0 (Epitopes); 0 (Tetraspanin 30); 37341-29-0 (Immunoglobulin E); 9010-34-8 (Thyroglobulin); EC 3.2.1.22 (alpha-Galactosidase); PQX0D8J21J (Cetuximab)
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171207
[Lr] Data última revisão:
171207
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161025
[St] Status:MEDLINE
[do] DOI:10.1111/all.13073


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[PMID]:29079200
[Au] Autor:Juchniewicz P; Kloska A; Tylki-Szymanska A; Jakóbkiewicz-Banecka J; Wegrzyn G; Moskot M; Gabig-Ciminska M; Piotrowska E
[Ad] Endereço:Department of Medical Biology and Genetics, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland.
[Ti] Título:Female Fabry disease patients and X-chromosome inactivation.
[So] Source:Gene;641:259-264, 2018 Jan 30.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Fabry disease is an X-linked inherited lysosomal storage disorder caused by mutations in the gene encoding α-galactosidase A (GLA). Once it was thought to affect only hemizygous males. Over the last fifteen years, research has shown that most females carrying mutated allele also develop symptoms, demonstrating a wide range of disease severity, from a virtually asymptomatic to more classical profile, with cardiac, renal, and cerebrovascular manifestations. This variable expression in females is thought to be influenced by the process of X-chromosome inactivation (XCI). The aim of this study was to assess severity of the clinical phenotype, to analyze XCI patterns, and to estimate their effect on disease manifestation in twelve female Fabry disease patients from five unrelated Polish families. Our analyses revealed that patients presented with the broad range of disease expression - from mild to severe, and their clinical involvement did not correlate with XCI profiles. Female carriers of the mutation in the GLA gene with the random XCI may present with the wide range of disease signs and symptoms. Thus, XCI is not a main factor in the phenotype variability of Fabry disease manifestation in heterozygous females.
[Mh] Termos MeSH primário: Cromossomos Humanos X/genética
Doença de Fabry/genética
Inativação do Cromossomo X/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Alelos
Criança
Feminino
Heterozigoto
Seres Humanos
Meia-Idade
Mutação/genética
Fenótipo
Adulto Jovem
alfa-Galactosidase/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.2.1.22 (alpha-Galactosidase)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171128
[Lr] Data última revisão:
171128
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171029
[St] Status:MEDLINE


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[PMID]:28857617
[Au] Autor:Arenz C
[Ad] Endereço:Institute for Chemistry, Humboldt Universität zu Berlin, Brook-Taylor-Str. 2, 12489 Berlin, Germany.
[Ti] Título:Recent advances and novel treatments for sphingolipidoses.
[So] Source:Future Med Chem;9(14):1685-1698, 2017 Sep.
[Is] ISSN:1756-8927
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Sphingolipidoses are genetically inherited diseases in which genetic mutations lead to functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates. As a consequence, nondegradable lipids enrich in the lysosomes and lead to fatal pathological phenotypes in affected individuals. In this review, different drug-based treatment strategies including enzyme replacement therapy and substrate reduction therapy are discussed. A special focus is on the concept of pharmacological chaperones, one of which recently acquired clinical approval within the EU. On the basis of the different limitations for each approach, possible future directions of research are discussed.
[Mh] Termos MeSH primário: Enzimas/uso terapêutico
Esfingolipidoses/tratamento farmacológico
[Mh] Termos MeSH secundário: Terapia de Reposição de Enzimas
Enzimas/genética
Enzimas/metabolismo
Doença de Fabry/tratamento farmacológico
Doença de Gaucher/tratamento farmacológico
Glucosilceramidase/genética
Glucosilceramidase/metabolismo
Glucosilceramidase/uso terapêutico
Seres Humanos
Lisossomos/metabolismo
Proteínas Recombinantes/biossíntese
Proteínas Recombinantes/isolamento & purificação
Proteínas Recombinantes/uso terapêutico
Esfingolipidoses/genética
Esfingolipidoses/patologia
Esfingolipídeos/metabolismo
alfa-Galactosidase/genética
alfa-Galactosidase/metabolismo
alfa-Galactosidase/uso terapêutico
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Enzymes); 0 (Recombinant Proteins); 0 (Sphingolipids); EC 3.2.1.22 (alpha-Galactosidase); EC 3.2.1.45 (Glucosylceramidase)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171025
[Lr] Data última revisão:
171025
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170901
[St] Status:MEDLINE
[do] DOI:10.4155/fmc-2017-0065


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[PMID]:28751199
[Au] Autor:Gavale KS; Chavan SR; Kumbhar N; Kawade S; Doshi P; Khan A; Dhavale DD
[Ad] Endereço:Department of Chemistry, Garware Research Centre, Savitribai Phule Pune University (Formerly University of Pune), Pune 411 007, India.
[Ti] Título:α-Geminal disubstituted pyrrolidine iminosugars and their C-4-fluoro analogues: Synthesis, glycosidase inhibition and molecular docking studies.
[So] Source:Bioorg Med Chem;25(19):5148-5159, 2017 Oct 01.
[Is] ISSN:1464-3391
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:A simple strategy for the synthesis of α-geminal disubstituted pyrrolidine iminosugars 3a-c and their C-4 fluorinated derivatives 4a-c has been described from d-glucose. The methodology involves the Corey-Link and Jocic-Reeve reaction with 3-oxo-α-d-glucofuranose and nucleophilic displacement reaction to get the furanose fused pyrrolidine ring skeleton with requisite CH OH/CO H functionalities at C-3. The fluorine substituent in target molecules was introduced by nucleophilic displacement of -OTf in 9a/9c with CsF. Appropriate manipulation of the anomeric carbon in the furanose fused pyrrolidine ring skeleton afforded α-geminal disubstituted pyrrolidine iminosugars 3a-c and C-4 fluoro derivatives 4a-c. The pyrrolidine iminosugars 3a and 3c were found to be potent inhibitors of α-galactosidase while, the fluoro derivatives 4a and 4b showed strong inhibition of ß-glucosidase and ß-galactosidase, respectively. These results were substantiated by in silico molecular docking studies.
[Mh] Termos MeSH primário: Inibidores Enzimáticos/química
Inibidores Enzimáticos/farmacologia
Glicosídeo Hidrolases/antagonistas & inibidores
Imino Açúcares/química
Imino Açúcares/farmacologia
Pirrolidinas/química
Pirrolidinas/farmacologia
[Mh] Termos MeSH secundário: Inibidores Enzimáticos/síntese química
Escherichia coli/enzimologia
Glicosídeo Hidrolases/metabolismo
Halogenação
Seres Humanos
Imino Açúcares/síntese química
Simulação de Acoplamento Molecular
Plantas/enzimologia
Pirrolidinas/síntese química
Leveduras/enzimologia
alfa-Galactosidase/antagonistas & inibidores
alfa-Galactosidase/metabolismo
beta-Galactosidase/antagonistas & inibidores
beta-Galactosidase/metabolismo
beta-Glucosidase/antagonistas & inibidores
beta-Glucosidase/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Enzyme Inhibitors); 0 (Imino Sugars); 0 (Pyrrolidines); EC 3.2.1.- (Glycoside Hydrolases); EC 3.2.1.21 (beta-Glucosidase); EC 3.2.1.22 (alpha-Galactosidase); EC 3.2.1.23 (beta-Galactosidase)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171016
[Lr] Data última revisão:
171016
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170729
[St] Status:MEDLINE


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[PMID]:28723748
[Au] Autor:Choi JH; Lee BH; Heo SH; Kim GH; Kim YM; Kim DS; Ko JM; Sohn YB; Hong YH; Lee DH; Kook H; Lim HH; Kim KH; Kim WS; Hong GR; Kim SH; Park SH; Kim CD; Kim SM; Seo JS; Yoo HW
[Ad] Endereço:aDepartment of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine bAsan Institute for Life Sciences cMedical Genetics Center, Asan Medical Center Children's Hospital, Seoul dDepartment of Pediatrics, Pusan National University Children's Hospital eDepartment of Neurology, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Yangsan fDepartment of Pediatrics, Seoul National University Children's Hospital, Seoul gDepartment of Medical Genetics, Ajou University Hospital, Ajou University School of Medicine, Suwon hDepartment of Pediatrics, College of Medicine, Soonchunhyang University, Bucheon Hospital, Bucheon iDepartment of Pediatrics, College of Medicine, Soonchunhyang University, Seoul Hospital, Seoul jDepartment of Pediatrics, Chonnam National University Hwasun Hospital, Hwasun kDepartment of Pediatrics, Chungnam National University Hospital, Daejeon lDepartment of Cardiology, Bucheon Sejong Hospital, Bucheon mDepartment of Cardiology, Kyung Hee University Hospital nDepartment of Cardiology, Yonsei University Severance Hospital oDepartment of Nephrology, Chung-Ang University Hospital pDepartment of Cardiology, Eulji University Hospital, Seoul qDepartment of Nephrology, Kyungpook National University Hospital, Daegu rDivision of Nephrology, Department of Internal Medicine, Dankook University Hospital, Dankook University, College of Medicine, Cheonan sDepartment of Cardiology, Inje University Busan Paik Hospital, Busan, Republic of Korea.
[Ti] Título:Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.
[So] Source:Medicine (Baltimore);96(29):e7387, 2017 Jul.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Fabry disease is a rare X-linked lysosomal storage disorder caused by an α-galactosidase A deficiency. The progressive accumulation of globotriaosylceramide (GL-3) results in life-threatening complications, including renal, cardiac, and cerebrovascular diseases. This study investigated the phenotypic and molecular spectra of GLA mutations in Korean patients with Fabry disease using a nationwide survey.This study included 94 patients from 46 independent pedigrees: 38 adult males, 46 symptomatic females, and 10 pediatric males. Each diagnosis was based on an enzyme assay and GLA gene mutation analysis.The mean age at presentation was 24 years (range, 5-65 years); however, the diagnoses were delayed by 21 ±â€Š19 years after the onset of symptoms. Those patients with late-onset Fabry disease were diagnosed by family screening or milder symptoms at a later age. Forty different mutations were identified: 20 missense (50%), 10 nonsense (25%), 8 frameshift (20%), and 2 splice site (5%) mutations. Five of them were novel. IVS4+919G>A (c.936+919 G>A) was not detected among the 6505 alleles via newborn screening using dried blood spots. Enzyme replacement therapy (ERT) was performed in all the males and pediatric patients, whereas 75% of the symptomatic females underwent ERT for 4.2 ±â€Š3.6 years.This study described the demographic data, wide clinical spectrum of phenotypes, and GLA mutation spectrum of Fabry disease in Korea. Most of the patients had classical Fabry disease, with a 4 times higher incidence than that of late-onset Fabry disease, indicating an underdiagnosis of mild, late-onset Fabry disease.
[Mh] Termos MeSH primário: Doença de Fabry/epidemiologia
Doença de Fabry/genética
Mutação
alfa-Galactosidase/genética
[Mh] Termos MeSH secundário: Adolescente
Idade de Início
Idoso
Criança
Pré-Escolar
Erros de Diagnóstico
Terapia de Reposição de Enzimas
Doença de Fabry/diagnóstico
Doença de Fabry/tratamento farmacológico
Feminino
Estudos de Associação Genética
Seres Humanos
Incidência
Recém-Nascido
Masculino
Meia-Idade
Triagem Neonatal
Fenótipo
República da Coreia/epidemiologia
Inquéritos e Questionários
Resultado do Tratamento
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.2.1.22 (alpha-Galactosidase); EC 3.2.1.22 (alpha-galactosidase A, human)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170801
[Lr] Data última revisão:
170801
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170721
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000007387



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