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[PMID]:28192816
[Au] Autor:Brackmann F; Kehrer C; Kustermann W; Böhringer J; Krägeloh-Mann I; Trollmann R
[Ad] Endereço:Division of Neuropediatrics, Department of Pediatrics, University Hospital Erlangen, Erlangen, Germany.
[Ti] Título:Rare Variant of GM2 Gangliosidosis through Activator-Protein Deficiency.
[So] Source:Neuropediatrics;48(2):127-130, 2017 Apr.
[Is] ISSN:1439-1899
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:GM2 gangliosidosis, AB variant, is a very rare form of GM2 gangliosidosis due to a deficiency of GM2 activator protein. We report on two patients with typical clinical features suggestive of GM2 gangliosidosis, but normal results for hexosaminidase A and hexosaminidase B as well as their corresponding genes. Genetic analysis of the gene encoding the activator protein, the gene, elucidated the cause of the disease, adding a novel mutation to the spectrum of GM2 AB variant. This report points out that in typical clinical constellations with normal enzyme results, genetic diagnostic for activator protein defects should be performed.
[Mh] Termos MeSH primário: Proteína Ativadora de G(M2)/deficiência
Proteína Ativadora de G(M2)/genética
Gangliosidoses GM2/genética
Gangliosidoses GM2/metabolismo
Mutação
[Mh] Termos MeSH secundário: Encéfalo/diagnóstico por imagem
Diagnóstico Diferencial
Feminino
Gangliosidoses GM2/diagnóstico por imagem
Gangliosidoses GM2/patologia
Seres Humanos
Lactente
Retina/patologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (G(M2) Activator Protein)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170417
[Lr] Data última revisão:
170417
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170214
[St] Status:MEDLINE
[do] DOI:10.1055/s-0037-1598646


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[PMID]:27428709
[Au] Autor:Nakamura T; Sato K; Naruse N; Kitakaze K; Inokuma T; Hirokawa T; Shigenaga A; Itoh K; Otaka A
[Ad] Endereço:Institute of Biomedical Sciences, Graduate School of Pharmaceutical Sciences, Tokushima University, Shomachi, Tokushima, 770-8505, Japan.
[Ti] Título:Tailored Synthesis of 162-Residue S-Monoglycosylated GM2-Activator Protein (GM2AP) Analogues that Allows Facile Access to a Protein Library.
[So] Source:Chembiochem;17(20):1986-1992, 2016 Oct 17.
[Is] ISSN:1439-7633
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:A synthetic protocol for the preparation of 162-residue S-monoglycosylated GM2-activator protein (GM2AP) analogues bearing various amino acid substitutions for Thr69 has been developed. The facile incorporation of the replacements into the protein was achieved by means of a one-pot/N-to-C-directed sequential ligation strategy using readily accessible middle N-sulfanylethylanilide (SEAlide) peptides each consisting of seven amino acid residues. A kinetically controlled ligation protocol was successfully applied to the assembly of three peptide segments covering the GM2AP. The native chemical ligation (NCL) reactivities of the SEAlide peptides can be tuned by the presence or absence of phosphate salts. Furthermore, NCL of the alkyl thioester fragment [GM2AP (1-31)] with the N-terminal cysteinyl prolyl thioester [GM2AP (32-67)] proceeded smoothly to yield the 67-residue prolyl thioester, with the prolyl thioester moiety remaining intact. This newly developed strategy enabled the facile synthesis of GM2AP analogues. Thus, we refer to this synthetic protocol as "tailored synthesis" for the construction of a GM2AP library.
[Mh] Termos MeSH primário: Proteína Ativadora de G(M2)/síntese química
Biblioteca de Peptídeos
[Mh] Termos MeSH secundário: Proteína Ativadora de G(M2)/química
Estrutura Molecular
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (G(M2) Activator Protein); 0 (Peptide Library)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170829
[Lr] Data última revisão:
170829
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160719
[St] Status:MEDLINE
[do] DOI:10.1002/cbic.201600400


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[PMID]:27002480
[Au] Autor:Shin J; Kim G; Lee JW; Lee JE; Kim YS; Yu JH; Lee ST; Ahn SH; Kim H; Lee C
[Ad] Endereço:Center for Theragnosis, Biomedical Research Institute, Korea Institute of Science and Technology, Seoul, Korea.
[Ti] Título:Identification of ganglioside GM2 activator playing a role in cancer cell migration through proteomic analysis of breast cancer secretomes.
[So] Source:Cancer Sci;107(6):828-35, 2016 Jun.
[Is] ISSN:1349-7006
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Cancer cell secretomes are considered a potential source for the discovery of cancer markers. In this study, the secretomes of four breast cancer (BC) cell lines (Hs578T, MCF-7, MDA-MB-231, and SK-BR-3) were profiled with liquid chromatography-tandem mass spectrometry analysis. A total of 1410 proteins were identified with less than 1% false discovery rate, of which approximately 55% (796 proteins) were predicted to be secreted from cells. To find BC-specific proteins among the secreted proteins, data of immunohistochemical staining compiled in the Human Protein Atlas were investigated by comparing the data of BC tissues with those of normal tissues. By applying various criteria, including higher expression level in BC tissues, higher predicted potential of secretion, and sufficient number of tandem mass spectra, 12 biomarker candidate proteins including ganglioside GM2 activator (GM2A) were selected for confirmation. Western blot analysis and ELISA for plasma samples of healthy controls and BC patients revealed elevation of GM2A in BC patients, especially those who were estrogen receptor-negative. Additionally, siRNA-mediated knockdown of GM2A in BC cells decreased migration in vitro, whereas the overexpression of GM2A led to an increase in cell migration. Although GM2A as a diagnostic and prognostic marker in BC should be carefully verified further, this study has established the potential role of GM2A in BC progression.
[Mh] Termos MeSH primário: Neoplasias da Mama/patologia
Neoplasias da Mama/secreção
Movimento Celular
Proteína Ativadora de G(M2)/metabolismo
Proteoma/secreção
Proteômica
[Mh] Termos MeSH secundário: Biomarcadores Tumorais/análise
Biomarcadores Tumorais/sangue
Biomarcadores Tumorais/metabolismo
Western Blotting
Neoplasias da Mama/sangue
Estudos de Casos e Controles
Linhagem Celular Tumoral
Movimento Celular/genética
Progressão da Doença
Ensaio de Imunoadsorção Enzimática
Feminino
Proteína Ativadora de G(M2)/deficiência
Seres Humanos
Proteínas de Neoplasias/análise
Proteínas de Neoplasias/sangue
Proteínas de Neoplasias/metabolismo
Estadiamento de Neoplasias
Proteoma/análise
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers, Tumor); 0 (G(M2) Activator Protein); 0 (Neoplasm Proteins); 0 (Proteome)
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160323
[St] Status:MEDLINE
[do] DOI:10.1111/cas.12935


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[PMID]:26672043
[Au] Autor:Kirby TJ; Walton RG; Finlin B; Zhu B; Unal R; Rasouli N; Peterson CA; Kern PA
[Ad] Endereço:College of Health Sciences, University of Kentucky, Lexington, Kentucky;
[Ti] Título:Integrative mRNA-microRNA analyses reveal novel interactions related to insulin sensitivity in human adipose tissue.
[So] Source:Physiol Genomics;48(2):145-53, 2016 Feb.
[Is] ISSN:1531-2267
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Adipose tissue has profound effects on whole-body insulin sensitivity. However, the underlying biological processes are quite complex and likely multifactorial. For instance, the adipose transcriptome is posttranscriptionally modulated by microRNAs, but the relationship between microRNAs and insulin sensitivity in humans remains to be determined. To this end, we utilized an integrative mRNA-microRNA microarray approach to identify putative molecular interactions that regulate the transcriptome in subcutaneous adipose tissue of insulin-sensitive (IS) and insulin-resistant (IR) individuals. Using the NanoString nCounter Human v1 microRNA Expression Assay, we show that 17 microRNAs are differentially expressed in IR vs. IS. Of these, 16 microRNAs (94%) are downregulated in IR vs. IS, including miR-26b, miR-30b, and miR-145. Using Agilent Human Whole Genome arrays, we identified genes that were predicted targets of miR-26b, miR-30b, and miR-145 and were upregulated in IR subjects. This analysis produced ADAM22, MYO5A, LOX, and GM2A as predicted gene targets of these microRNAs. We then validated that miR-145 and miR-30b regulate these mRNAs in differentiated human adipose stem cells. We suggest that use of bioinformatic integration of mRNA and microRNA arrays yields verifiable mRNA-microRNA pairs that are associated with insulin resistance and can be validated in vitro.
[Mh] Termos MeSH primário: Tecido Adiposo/metabolismo
Resistência à Insulina
Insulina/metabolismo
MicroRNAs/metabolismo
RNA Mensageiro/metabolismo
[Mh] Termos MeSH secundário: Proteínas ADAM/metabolismo
Análise por Conglomerados
Proteína Ativadora de G(M2)/metabolismo
Perfilação da Expressão Gênica
Regulação da Expressão Gênica
Genoma Humano
Seres Humanos
Cadeias Pesadas de Miosina/metabolismo
Miosina Tipo V/metabolismo
Proteínas do Tecido Nervoso/metabolismo
Análise de Sequência com Séries de Oligonucleotídeos
Receptores Depuradores Classe E/metabolismo
[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 (G(M2) Activator Protein); 0 (Insulin); 0 (MIRN145 microRNA, human); 0 (MIRN26A microRNA, human); 0 (MIRN30 microRNA, human); 0 (MicroRNAs); 0 (Nerve Tissue Proteins); 0 (OLR1 protein, human); 0 (RNA, Messenger); 0 (Scavenger Receptors, Class E); 148971-15-7 (MYO5A protein, human); EC 3.4.24.- (ADAM Proteins); EC 3.4.24.- (ADAM22 protein, human); EC 3.6.1.- (Myosin Type V); EC 3.6.4.1 (Myosin Heavy Chains)
[Em] Mês de entrada:1610
[Cu] Atualização por classe:170618
[Lr] Data última revisão:
170618
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151217
[St] Status:MEDLINE
[do] DOI:10.1152/physiolgenomics.00071.2015


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[PMID]:26175473
[Au] Autor:Anheuser S; Breiden B; Schwarzmann G; Sandhoff K
[Ad] Endereço:LIMES Institute, Membrane Biology and Lipid Biochemistry Unit, Kekulé-Institut für Organische Chemie und Biochemie, Universität Bonn, D-53121 Bonn, Germany.
[Ti] Título:Membrane lipids regulate ganglioside GM2 catabolism and GM2 activator protein activity.
[So] Source:J Lipid Res;56(9):1747-61, 2015 Sep.
[Is] ISSN:1539-7262
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Ganglioside GM2 is the major lysosomal storage compound of Tay-Sachs disease. It also accumulates in Niemann-Pick disease types A and B with primary storage of SM and with cholesterol in type C. Reconstitution of GM2 catabolism with ß-hexosaminidase A and GM2 activator protein (GM2AP) at uncharged liposomal surfaces carrying GM2 as substrate generated only a physiologically irrelevant catabolic rate, even at pH 4.2. However, incorporation of anionic phospholipids into the GM2 carrying liposomes stimulated GM2 hydrolysis more than 10-fold, while the incorporation of plasma membrane stabilizing lipids (SM and cholesterol) generated a strong inhibition of GM2 hydrolysis, even in the presence of anionic phospholipids. Mobilization of membrane lipids by GM2AP was also inhibited in the presence of cholesterol or SM, as revealed by surface plasmon resonance studies. These lipids also reduced the interliposomal transfer rate of 2-NBD-GM1 by GM2AP, as observed in assays using Förster resonance energy transfer. Our data raise major concerns about the usage of recombinant His-tagged GM2AP compared with untagged protein. The former binds more strongly to anionic GM2-carrying liposomal surfaces, increases GM2 hydrolysis, and accelerates intermembrane transfer of 2-NBD-GM1, but does not mobilize membrane lipids.
[Mh] Termos MeSH primário: Proteína Ativadora de G(M2)/metabolismo
Gangliosídeo G(M2)/metabolismo
Lipossomos/metabolismo
Lipídeos de Membrana/metabolismo
[Mh] Termos MeSH secundário: Ceramidas/metabolismo
Colesterol/genética
Colesterol/metabolismo
Transferência Ressonante de Energia de Fluorescência
Proteína Ativadora de G(M2)/genética
Células HEK293
Seres Humanos
Hidrólise/efeitos dos fármacos
Lisofosfolipídeos/administração & dosagem
Lipídeos de Membrana/genética
Monoglicerídeos/administração & dosagem
Doenças de Niemann-Pick/genética
Doenças de Niemann-Pick/metabolismo
Doenças de Niemann-Pick/patologia
Esfingomielinas/metabolismo
Ressonância de Plasmônio de Superfície
Doença de Tay-Sachs/genética
Doença de Tay-Sachs/metabolismo
Doença de Tay-Sachs/patologia
Cadeia alfa da beta-Hexosaminidase/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Ceramides); 0 (G(M2) Activator Protein); 0 (Liposomes); 0 (Lysophospholipids); 0 (Membrane Lipids); 0 (Monoglycerides); 0 (Sphingomyelins); 0 (bis(monoacylglyceryl)phosphate); 19600-01-2 (G(M2) Ganglioside); 97C5T2UQ7J (Cholesterol); EC 3.2.1.52 (HEXA protein, human); EC 3.2.1.52 (beta-Hexosaminidase alpha Chain)
[Em] Mês de entrada:1605
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150716
[St] Status:MEDLINE
[do] DOI:10.1194/jlr.M061036


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[PMID]:26006093
[Au] Autor:Sato K; Kitakaze K; Nakamura T; Naruse N; Aihara K; Shigenaga A; Inokuma T; Tsuji D; Itoh K; Otaka A
[Ad] Endereço:Institute of Biomedical Sciences and Graduate School of Pharmaceutical Sciences, Tokushima University, Tokushima 770-8505, Japan. aotaka@tokushima-u.ac.jp.
[Ti] Título:The total chemical synthesis of the monoglycosylated GM2 ganglioside activator using a novel cysteine surrogate.
[So] Source:Chem Commun (Camb);51(49):9946-8, 2015 Jun 21.
[Is] ISSN:1364-548X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:We describe a novel peptide ligation/desulfurization strategy using a ß-mercapto-N-glycosylated asparagine derivative. The newly developed procedure was successfully applied to the total chemical synthesis of the GM2 ganglioside activator protein bearing a monosaccharide on the native glycosylation site.
[Mh] Termos MeSH primário: Cisteína
Proteína Ativadora de G(M2)/química
Proteína Ativadora de G(M2)/síntese química
[Mh] Termos MeSH secundário: Sequência de Aminoácidos
Técnicas de Química Sintética
Glicosilação
Modelos Moleculares
Dados de Sequência Molecular
Monossacarídeos/química
Conformação Proteica
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (G(M2) Activator Protein); 0 (Monosaccharides); K848JZ4886 (Cysteine)
[Em] Mês de entrada:1603
[Cu] Atualização por classe:150604
[Lr] Data última revisão:
150604
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150527
[St] Status:MEDLINE
[do] DOI:10.1039/c5cc02967h


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[PMID]:25490003
[Au] Autor:Potprommanee L; Ma HT; Shank L; Juan YH; Liao WY; Chen ST; Yu CJ
[Ad] Endereço:*Institute of Biological Chemistry, Academia Sinica, Taipei, Taiwan; †Department of Chemistry, Faculty of Science, Chiang Mai University, Chiang Mai, Thailand; ‡Department of Internal Medicine, National Taiwan University Hospital; §Genomics Research Center, Academia Sinica; ‖Institute of Biochemical Science, College of Life Science, National Taiwan University; and ¶Department of Medicine, National Taiwan University Medical College, Taipei, Taiwan.
[Ti] Título:GM2-activator protein: a new biomarker for lung cancer.
[So] Source:J Thorac Oncol;10(1):102-9, 2015 Jan.
[Is] ISSN:1556-1380
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: Effective biomarkers for early diagnosis of lung cancer are needed. A recent study demonstrated that urinary GM2-activator protein (GM2AP) level was increased in lung cancer patients. This study aims to validate the potential application of GM2AP as a biomarker for diagnosis of lung cancer. METHODS: Serum and urine samples were obtained from 189 participants (133 patients for treatment naive lung cancer, 26 healthy volunteers for urine, and 30 healthy volunteers for serum). GM2AP level was detected by Western blotting and quantified using enzyme-linked immunosorbent assay (ELISA). The GM2AP expression in tumors and nontumor parts of lung tissues from 143 nonsmall cell lung cancers was detected by immunohistochemical stains. RESULTS: There was an 8.11 ± 1.36 folds increase in urine and a 5.41 ± 0.73 folds increase in serum level of GM2AP in lung cancer patients compared with healthy volunteers (p < 0.0001), achieving a 0.89 AUC value in urine and 0.90 AUC value in serum for the receiver-operating characteristic curves. Both serum and urine levels of GM2AP correlated significantly with pathology stages (urine, p = 0.009; serum, p < 0.0001). Using immunohistochemical, positive expression of GM2AP was found at 83.9% of nonsmall cell lung cancers patients and none in normal tissue. The GM2AP expression was significantly correlated with pathology stage (p = 0.0001). Patients with higher GM2AP expression had shorter overall survival (p = 0.045) and disease-free survival (p = 0.049) than lower GM2AP expression. Moreover, the multivariate analysis suggested GM2AP as an independent predictors of disease-free survival and overall survival. CONCLUSIONS: Our study demonstrates that GM2AP might serve as potential diagnostic and prognostic biomarkers in patients with lung cancer.
[Mh] Termos MeSH primário: Biomarcadores Tumorais/sangue
Biomarcadores Tumorais/urina
Proteína Ativadora de G(M2)/sangue
Proteína Ativadora de G(M2)/urina
Neoplasias Pulmonares/sangue
Neoplasias Pulmonares/urina
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Estudos de Casos e Controles
Feminino
Seres Humanos
Neoplasias Pulmonares/diagnóstico
Neoplasias Pulmonares/patologia
Masculino
Meia-Idade
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Biomarkers, Tumor); 0 (G(M2) Activator Protein)
[Em] Mês de entrada:1510
[Cu] Atualização por classe:151119
[Lr] Data última revisão:
151119
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:141210
[St] Status:MEDLINE
[do] DOI:10.1097/JTO.0000000000000357


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[PMID]:25127419
[Au] Autor:Carter JD; Mathias JD; Gomez EF; Ran Y; Xu F; Galiano L; Tran NQ; D'Amore PW; Wright CS; Chakravorty DK; Fanucci GE
[Ad] Endereço:Department of Chemistry, University of Florida , P.O. Box 117200, Gainesville, Florida 32611-7200, United States.
[Ti] Título:Characterizing solution surface loop conformational flexibility of the GM2 activator protein.
[So] Source:J Phys Chem B;118(36):10607-17, 2014 Sep 11.
[Is] ISSN:1520-5207
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:GM2AP has a ß-cup topology with numerous X-ray structures showing multiple conformations for some of the surface loops, revealing conformational flexibility that may be related to function, where function is defined as either membrane binding associated with ligand binding and extraction or interaction with other proteins. Here, site-directed spin labeling (SDSL) electron paramagnetic resonance (EPR) spectroscopy and molecular dynamic (MD) simulations are used to characterize the mobility and conformational flexibility of various structural regions of GM2AP. A series of 10 single cysteine amino acid substitutions were generated, and the constructs were chemically modified with the methanethiosulfonate spin label. Continuous wave (CW) EPR line shapes were obtained and subsequently simulated using the microscopic order macroscopic disorder (MOMD) program. Line shapes for sites that have multiple conformations in the X-ray structures required two spectral components, whereas spectra of the remaining sites were adequately fit with single-component parameters. For spin labeled sites L126C and I66C, spectra were acquired as a function of temperature, and simulations provided for the determination of thermodynamic parameters associated with conformational change. Binding to GM2 ligand did not alter the conformational flexibility of the loops, as evaluated by EPR and NMR spectroscopies. These results confirm that the conformational flexibility observed in the surface loops of GM2AP crystals is present in solution and that the exchange is slow on the EPR time scale (>ns). Furthermore, MD simulation results are presented and agree well with the conformational heterogeneity revealed by SDSL.
[Mh] Termos MeSH primário: Proteína Ativadora de G(M2)/química
[Mh] Termos MeSH secundário: Cisteína/química
Elasticidade
Espectroscopia de Ressonância de Spin Eletrônica
Proteína Ativadora de G(M2)/genética
Concentração de Íons de Hidrogênio
Modelos Lineares
Simulação de Dinâmica Molecular
Conformação Proteica
Proteínas Recombinantes/química
Proteínas Recombinantes/genética
Soluções
Marcadores de Spin
Temperatura Ambiente
Termodinâmica
[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 (G(M2) Activator Protein); 0 (Recombinant Proteins); 0 (Solutions); 0 (Spin Labels); K848JZ4886 (Cysteine)
[Em] Mês de entrada:1506
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:140816
[St] Status:MEDLINE
[do] DOI:10.1021/jp505938t


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[PMID]:23765733
[Au] Autor:Sato K; Shigenaga A; Kitakaze K; Sakamoto K; Tsuji D; Itoh K; Otaka A
[Ad] Endereço:Institute of Health Bioscience and Graduate School of Pharmaceutical Sciences, The University of Tokushima, Shomachi, Tokushima 770-8505, Japan.
[Ti] Título:Chemical synthesis of biologically active monoglycosylated GM2-activator protein analogue using N-sulfanylethylanilide peptide.
[So] Source:Angew Chem Int Ed Engl;52(30):7855-9, 2013 Jul 22.
[Is] ISSN:1521-3773
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:Going to SEA(lide): Total chemical synthesis of a 162-residue glycoprotein analogue of the monoglycosylated human GM2-activator protein (GM2AP) was achieved. Key steps were the use of N-sulfanylethylanilide (SEAlide) peptides in the kinetic chemical ligation synthesis of a large peptide fragment, and a convergent native chemical ligation for final fragment assembly.
[Mh] Termos MeSH primário: Anilidas/química
Proteína Ativadora de G(M2)/síntese química
Fragmentos de Peptídeos/química
Compostos de Sulfidrila/química
[Mh] Termos MeSH secundário: Sequência de Aminoácidos
Gangliosídeo G(M2)/metabolismo
Glicosilação
Seres Humanos
Cinética
Dados de Sequência Molecular
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Anilides); 0 (G(M2) Activator Protein); 0 (Peptide Fragments); 0 (Sulfhydryl Compounds); 19600-01-2 (G(M2) Ganglioside)
[Em] Mês de entrada:1310
[Cu] Atualização por classe:130718
[Lr] Data última revisão:
130718
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:130615
[St] Status:MEDLINE
[do] DOI:10.1002/anie.201303390


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[PMID]:23759947
[Au] Autor:Yasui N; Takaoka Y; Nishio H; Nurputra DK; Sekiguchi K; Hamaguchi H; Kowa H; Maeda E; Sugano A; Miura K; Sakaeda T; Kanda F; Toda T
[Ad] Endereço:Division of Neurology, Kobe University Graduate School of Medicine, Kobe, Japan.
[Ti] Título:Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB: application of simulation analysis.
[So] Source:J Hum Genet;58(9):611-7, 2013 Sep.
[Is] ISSN:1435-232X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Sandhoff disease is a GM2 gangliosidosis caused by mutations in HEXB encoding the ß-subunit of ß-hexosaminidase A. ß-Hexosaminidase A exists as a heterodimer consisting of α- and ß-subunits, and requires a GM2 activator protein to hydrolyze GM2. To investigate the molecular pathology in an adult Sandhoff disease patient with an early disease onset, we performed mutation detection, western blot analysis and molecular simulation analysis. The patient had compound heterozygous mutations p.Arg505Gln and p.Ser341ValfsX30. Western blot analysis showed that the amount of mature form of the α- and ß-subunits was markedly decreased in the patient. We then performed docking simulation analysis of the α- and ß-subunits with p.Arg505Gln, the GM2AP/GM2 complex and ß-hexosaminidase A, and GM2 and ß-hexosaminidase A. Simulation analysis showed that p.Arg505Gln impaired each step of molecular conformation of the α- and ß-subunits heterodimer, the activator protein and GM2. The results indicated that p.Ser341ValfsX30 reduced the amount of ß-subunit, and that p.Arg505Gln hampered the maturation of α- and ß-subunits, and hindered the catalytic ability of ß-hexosaminidase A. In conclusion, various methods including simulation analysis were useful to understand the molecular pathology in Sandhoff disease.
[Mh] Termos MeSH primário: Hexosaminidase A/genética
Simulação de Acoplamento Molecular
Doença de Sandhoff/genética
[Mh] Termos MeSH secundário: Adulto
Feminino
Proteína Ativadora de G(M2)/química
Hexosaminidase A/química
Hexosaminidase A/metabolismo
Seres Humanos
Mutação
Multimerização Proteica
Subunidades Proteicas/química
Subunidades Proteicas/genética
Subunidades Proteicas/metabolismo
Doença de Sandhoff/enzimologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (G(M2) Activator Protein); 0 (Protein Subunits); EC 3.2.1.52 (Hexosaminidase A)
[Em] Mês de entrada:1404
[Cu] Atualização por classe:130925
[Lr] Data última revisão:
130925
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:130614
[St] Status:MEDLINE
[do] DOI:10.1038/jhg.2013.68



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