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[PMID]:29215423
[Au] Autor:Anderson S
[Ad] Endereço:Sharon Anderson is an Assistant Professor, Rutgers School of Nursing, Newark, and Advanced Practice Nurse, Pediatric Genetics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ. The author can be reached via e-mail at sharon.anderson@rutgers.edu.
[Ti] Título:GALT Deficiency Galactosemia.
[So] Source:MCN Am J Matern Child Nurs;43(1):44-51, 2018 Jan/Feb.
[Is] ISSN:1539-0683
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Galactosemia is an inborn error of galactose metabolism that results from a deficiency in one of three enzymes, uridine diphosphate galactose 4'epimerase, galactokinase, or galactose-1-phosphate uridyltransferase (GALT). This article focuses on classical, clinical variant, and biochemical variant (Duarte) galactosemias caused by GALT enzyme deficiency. A brief overview of galactosemia and newborn screening is presented, followed by detailed information about each of the conditions. Confirmatory testing, acute and long-term management, and outcome for these galactosemia types are discussed as well as the importance of genetic counseling and testing for the infant and family to refine reproductive risk.
[Mh] Termos MeSH primário: Galactosemias/diagnóstico
Galactosemias/fisiopatologia
Triagem Neonatal/métodos
UTP-Hexose-1-Fosfato Uridililtransferase/análise
[Mh] Termos MeSH secundário: Galactosemias/metabolismo
Seres Humanos
Recém-Nascido
Necessidades Nutricionais
UTP-Hexose-1-Fosfato Uridililtransferase/sangue
UTP-Hexose-1-Fosfato Uridililtransferase/toxicidade
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.7.10 (UTP-Hexose-1-Phosphate Uridylyltransferase)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180305
[Lr] Data última revisão:
180305
[Sb] Subgrupo de revista:IM; N
[Da] Data de entrada para processamento:171208
[St] Status:MEDLINE
[do] DOI:10.1097/NMC.0000000000000388


  2 / 1877 MEDLINE  
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[PMID]:28450132
[Au] Autor:De Lucca M; Barba C; Casique L
[Ad] Endereço:Laboratorio de Biología Molecular y Celular, Universidad Técnica de Ambato, Ambato, Ecuador. Electronic address: ma.delucca@uta.edu.ec.
[Ti] Título:A novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family.
[So] Source:Clin Chim Acta;470:20-23, 2017 Jul.
[Is] ISSN:1873-3492
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Classic Galactosemia (OMIM 230400) is an autosomal recessive disorder of galactose metabolism caused by mutations in the galactose-1-phosphate uridyl transferase (GALT) gene. This disease caused by the inability to metabolize galactose is potentially life-threatening but its pathophysiology has not been clearly defined. GALT gene presents high allelic heterogeneity and around 336 variations have been identified. Here, we report the case of a patient with Classic Galactosemia who was detected during a neonatal screening in Ecuador. Molecular study revealed a mutation in GALT gene intron 1, c.82+3A>G in homozygous condition, this mutation has not been previously reported. This gene variation was not found in any of the 119 healthy Ecuadorian individuals used as control. Furthermore, the mutation was the only alteration detected in the propositus's GALT after sequencing all exons and introns of this gene. In silico modeling predicted that the mutation was pathogenic.
[Mh] Termos MeSH primário: Galactosemias/enzimologia
Galactosemias/genética
Mutação
Linhagem
Processamento de RNA/genética
UTP-Hexose-1-Fosfato Uridililtransferase/genética
[Mh] Termos MeSH secundário: Adulto
Sequência de Bases
Pré-Escolar
Biologia Computacional
Equador
Feminino
Homozigoto
Seres Humanos
Masculino
Polimorfismo de Nucleotídeo Único
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.7.10 (UTP-Hexose-1-Phosphate Uridylyltransferase)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180108
[Lr] Data última revisão:
180108
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170429
[St] Status:MEDLINE


  3 / 1877 MEDLINE  
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[PMID]:28579413
[Au] Autor:van Erven B; Berry GT; Cassiman D; Connolly G; Forga M; Gautschi M; Gubbels CS; Hollak CEM; Janssen MC; Knerr I; Labrune P; Langendonk JG; Õunap K; Thijs A; Vos R; Wortmann SB; Rubio-Gozalbo ME
[Ad] Endereço:Department of Pediatrics and Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.
[Ti] Título:Fertility in adult women with classic galactosemia and primary ovarian insufficiency.
[So] Source:Fertil Steril;108(1):168-174, 2017 Jul.
[Is] ISSN:1556-5653
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To study pregnancy chance in adult women with classic galactosemia and primary ovarian insufficiency. Despite dietary treatment, >90% of women with classic galactosemia develop primary ovarian insufficiency, resulting in impaired fertility. For many years, chance of spontaneous conception has not been considered, leading to counseling for infertility. But an increasing number of reports on pregnancies in this group questions whether current counseling approaches are correct. DESIGN: Multicenter retrospective observational study. SETTING: Metabolic centers. PATIENT(S): Adult women (aged >18 y) with confirmed classic galactosemia and primary ovarian insufficiency were included. INTERVENTION(S): Participants and medical records were consulted to obtain study data in a standardized manner with the use of a questionnaire. MAIN OUTCOME MEASURE(S): Conception opportunities, time to pregnancy, pregnancy outcome, hormone replacement therapy use, fertility counseling, and the participants' vision of fertility were evaluated. Potential predictive factors for increased pregnancy chance were explored. RESULT(S): Eighty-five women with classic galactosemia and primary ovarian insufficiency participated. Twenty-one women actively attempted to conceive or did not take adequate contraceptive precautions. Of these 21 women, nine became pregnant spontaneously (42.9%). This was higher than reported in primary ovarian insufficiency due to other causes (5%-10%). After a period of 12 months, a cumulative proportion of 27.8% of couples had conceived, which increased to 48.4% after 24 months and 61.3% after 27 months. Predictive factors could not be identified. A considerable miscarriage rate of 30% was observed (6 of 20 pregnancies). Although a substantial proportion of women expressed a child-wish (n = 28/53; 52.8%), the vast majority of participants (n = 43/57; 75.4%) considered conceiving to be highly unlikely, owing to negative counseling in the past. CONCLUSION(S): The pregnancy rate in women with classic galactosemia and primary ovarian insufficiency was higher than for women with primary ovarian insufficiency of any cause. This shifting paradigm carries significant implications for fertility counseling and potential application of fertility preservation techniques.
[Mh] Termos MeSH primário: Galactosemias/epidemiologia
Infertilidade Feminina/epidemiologia
Infertilidade Feminina/terapia
Complicações na Gravidez/epidemiologia
Resultado da Gravidez/epidemiologia
Insuficiência Ovariana Primária/epidemiologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Comorbidade
Feminino
Galactosemias/diagnóstico
Seres Humanos
Incidência
Infertilidade Feminina/diagnóstico
Meia-Idade
Gravidez
Complicações na Gravidez/diagnóstico
Insuficiência Ovariana Primária/diagnóstico
Estudos Retrospectivos
Fatores de Risco
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY; REVIEW
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170818
[Lr] Data última revisão:
170818
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170606
[St] Status:MEDLINE


  4 / 1877 MEDLINE  
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[PMID]:28281081
[Au] Autor:Coelho AI; Rubio-Gozalbo ME; Vicente JB; Rivera I
[Ad] Endereço:Department of Pediatrics and Department of Clinical Genetics, Maastricht University Medical Centre, P. Debyelaan 25, PO Box 5800, 6202 AZ, Maastricht, The Netherlands. a.cruzcoelho@maastrichtuniversity.nl.
[Ti] Título:Sweet and sour: an update on classic galactosemia.
[So] Source:J Inherit Metab Dis;40(3):325-342, 2017 May.
[Is] ISSN:1573-2665
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Classic galactosemia is a rare inherited disorder of galactose metabolism caused by deficient activity of galactose-1-phosphate uridylyltransferase (GALT), the second enzyme of the Leloir pathway. It presents in the newborn period as a life-threatening disease, whose clinical picture can be resolved by a galactose-restricted diet. The dietary treatment proves, however, insufficient in preventing severe long-term complications, such as cognitive, social and reproductive impairments. Classic galactosemia represents a heavy burden on patients' and their families' lives. After its first description in 1908 and despite intense research in the past century, the exact pathogenic mechanisms underlying galactosemia are still not fully understood. Recently, new important insights on molecular and cellular aspects of galactosemia have been gained, and should open new avenues for the development of novel therapeutic strategies. Moreover, an international galactosemia network has been established, which shall act as a platform for expertise and research in galactosemia. Herein are reviewed some of the latest developments in clinical practice and research findings on classic galactosemia, an enigmatic disorder with many unanswered questions warranting dedicated research.
[Mh] Termos MeSH primário: Galactosemias/enzimologia
Galactosemias/metabolismo
UDPglucose-Hexose-1-Fosfato Uridiltransferase/metabolismo
[Mh] Termos MeSH secundário: Animais
Galactose/metabolismo
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
EC 2.7.7.12 (UDPglucose-Hexose-1-Phosphate Uridylyltransferase); X2RN3Q8DNE (Galactose)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170824
[Lr] Data última revisão:
170824
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170311
[St] Status:MEDLINE
[do] DOI:10.1007/s10545-017-0029-3


  5 / 1877 MEDLINE  
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[PMID]:28173647
[Au] Autor:Yang RL; Tong F; Hong F; Qian GL; Wu DW; Zhao ZY
[Ad] Endereço:Department of Genetic and Metabolic diseases, Children's Hospital of Zhejiang University School of Medicine, Hangzhou 310052, China.
[Ti] Título:[Analysis of newborn screening for galactosemia and genotype-phenotype of confirmed galatosemia cases].
[So] Source:Zhonghua Er Ke Za Zhi;55(2):104-109, 2017 Feb 02.
[Is] ISSN:0578-1310
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:To investigate the prevalence of galactosemia(GAL), and the characteristics of genotype and phenotype of newborns who were confirmed with GAL in newborn screening in Zhejiang province. The number of all live births, newborn screened infants and all clinical data of confirmed newborns with GAL from October 2013 to March 2015 were retrospectively analyzed by reviewing the data of Zhejiang Province screening center database. And the characteristics of genes and the clinical data of GAL cases who were confirmed by correlative gene test and enzyme activity measurement were analyzed. The prevalence of GAL in Zhejiang province was 1/189 857. Among them, there was 1 case confirmed with GAL typeâ…  (prevalence, 1/759 428), with mutations of c. 904+ 1G>T and c. 687G>A, the enzyme activity of galactose-1-phosphate uridyltransferase (GALT) was 56.4% of controls. And there was 1 case of GAL typeâ…¡(prevalence, 1/759 428), with mutations of c. 85G>T and c. 502G>A. There were 2 cases confirmed with GAL type â…¢(prevalence, 1/379 714), with mutations of c. 505C>T, c. 452G>A, c. 280G>A and c. 925G>A, the enzyme activity of UDP-galactose-4'-epimerase (GALE) were 42% and 38% of controls, respectively. All cases had different abnormal biochemical marks of liver function, and 1 case had combined hyperlactacidemia or hyperammonemia or increase of multiple kinds of amino acids, respectively. The newborn of GAL type â…¡ had phacoscotasmus before treatment. All the cases were fed with lactose free milk powder, and all the abnormal parameters were improved during following up. The disease of GAL is rare in Zhejiang province, and its genotype distribution is scattered with comparatively mind clinical manifestations, and the cases with early treatment with lactose free milk powder have good prognosis. All cases needed to be treated and followed up for a life-long time. It is recommended that the high risk cases with GAL should be screened as soon as possible.
[Mh] Termos MeSH primário: Galactosemias/diagnóstico
Triagem Neonatal
[Mh] Termos MeSH secundário: Testes Genéticos
Genótipo
Seres Humanos
Lactente
Recém-Nascido
Mutação
Fenótipo
Prevalência
UDPglucose 4-Epimerase
UTP-Hexose-1-Fosfato Uridililtransferase
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.7.10 (UTP-Hexose-1-Phosphate Uridylyltransferase); EC 5.1.3.2 (UDPglucose 4-Epimerase)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170727
[Lr] Data última revisão:
170727
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170209
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.0578-1310.2017.02.010


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[PMID]:28075131
[Au] Autor:Staubach S; Müller S; Pekmez M; Hanisch FG
[Ad] Endereço:Institute of Biochemistry II, Medical Faculty, University of Cologne , Joseph-Stelzmann-Str. 52, 50931 Köln, Germany.
[Ti] Título:Classical Galactosemia: Insight into Molecular Pathomechanisms by Differential Membrane Proteomics of Fibroblasts under Galactose Stress.
[So] Source:J Proteome Res;16(2):516-527, 2017 Feb 03.
[Is] ISSN:1535-3907
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Classical galactosemia, a hereditary metabolic disease caused by the deficiency of galactose-1-phosphate uridyltransferase (GALT; EC 2.7.712), results in an impaired galactose metabolism and serious long-term developmental affection of the CNS and ovaries, potentially related in part to endogenous galactose-induced protein dysglycosylation. In search for galactose-induced changes in membrane raft proteomes of GALT-deficient cells, we performed differential analyses of lipid rafts from patient-derived (Q) and sex- and age-matched control fibroblasts (H) in the presence or absence of the stressor. Label-based proteomics revealed of the total 454 (female) or 678 (male) proteins a proportion of ∼12% in at least one of four relevant ratios as fold-changed. GALT(-) cell-specific effects in the absence of stressor revealed cell-model-dependent affection of biological processes related to protein targeting to the plasma membrane (female) or to cellular migration (male). However, a series of common galactose-induced effects were observed, among them the strongly increased ER-stress marker GRP78 and calreticulin involved in N-glycoprotein quality control. The membrane-anchored N-glycoprotein receptor CD109 was concertedly decreased under galactose-stress together with cadherin-13, GLIPR1, glypican-1, and semaphorin-7A. A series of proteins showed opposite fold-changes in the two cell models, whereas others fluctuated in only one of the two models.
[Mh] Termos MeSH primário: Fibroblastos/efeitos dos fármacos
Galactose/farmacologia
Galactosemias/genética
Regulação da Expressão Gênica/efeitos dos fármacos
Microdomínios da Membrana/efeitos dos fármacos
[Mh] Termos MeSH secundário: Antígenos CD/genética
Antígenos CD/metabolismo
Caderinas/genética
Caderinas/metabolismo
Calreticulina/genética
Calreticulina/metabolismo
Estudos de Casos e Controles
Pré-Escolar
Feminino
Fibroblastos/metabolismo
Fibroblastos/patologia
Proteínas Ligadas por GPI/genética
Proteínas Ligadas por GPI/metabolismo
Galactosemias/metabolismo
Galactosemias/patologia
Perfilação da Expressão Gênica
Ontologia Genética
Glipicanas/genética
Glipicanas/metabolismo
Proteínas de Choque Térmico/genética
Proteínas de Choque Térmico/metabolismo
Seres Humanos
Lactente
Masculino
Microdomínios da Membrana/química
Microdomínios da Membrana/metabolismo
Anotação de Sequência Molecular
Proteínas de Neoplasias/genética
Proteínas de Neoplasias/metabolismo
Proteínas do Tecido Nervoso/genética
Proteínas do Tecido Nervoso/metabolismo
Cultura Primária de Células
Semaforinas/genética
Semaforinas/metabolismo
Transdução de Sinais
Estresse Fisiológico
UTP-Hexose-1-Fosfato Uridililtransferase
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antigens, CD); 0 (CD109 protein, human); 0 (Cadherins); 0 (Calreticulin); 0 (GLIPR1 protein, human); 0 (GPI-Linked Proteins); 0 (Glypicans); 0 (H-cadherin); 0 (Heat-Shock Proteins); 0 (Neoplasm Proteins); 0 (Nerve Tissue Proteins); 0 (SEMA7A protein, human); 0 (Semaphorins); 0 (calreticulin, human); 0 (molecular chaperone GRP78); EC 2.7.7.10 (UTP-Hexose-1-Phosphate Uridylyltransferase); X2RN3Q8DNE (Galactose)
[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:170112
[St] Status:MEDLINE
[do] DOI:10.1021/acs.jproteome.6b00658


  7 / 1877 MEDLINE  
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[PMID]:28065439
[Au] Autor:Welling L; Boelen A; Derks TG; Schielen PC; de Vries M; Williams M; Wijburg FA; Bosch AM
[Ad] Endereço:Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands. Electronic address: lindsey.welling@amc.uva.nl.
[Ti] Título:Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes.
[So] Source:Mol Genet Metab;120(3):223-228, 2017 Mar.
[Is] ISSN:1096-7206
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: Newborn screening (NBS) for classical galactosemia (CG) was introduced in the Netherlands in 2007. Multiple screening methods have been used since, and currently a two-tier system is used, with residual enzyme activity of galactose-1-phosphate-uridyltransferase (GALT) and total galactose concentration in dried blood spots as the primary and secondary markers. As it is essential to monitor effectiveness of NBS programs, we assessed the effectiveness of different screening methods used over time (primary aim), and aimed to identify and investigate patients identified through NBS with previously unreported clinical and biochemical phenotypes (secondary aim). METHODS: The effectiveness of different screening methods and their cut-off values (COVs), as used from 2007 through 2015, was determined, and the clinical and biochemical data of all identified patients were retrospectively collected. RESULTS: All screening methods and COVs resulted in relatively high false-positive rates and low positive predictive values. Total galactose levels in dried blood spots were far above the COV for NBS in all true positive cases. A total of 31 galactosemia patients were identified, and when corrected for a family with three affected siblings, 14% had a previously unreported phenotype and genotype. These individuals did not demonstrate any symptoms at the time of diagnosis while still being exposed to galactose, had galactose-1-phosphate values below detection limit within months after the start of diet, and had previously unreported genotypes. CONCLUSION: Optimization of NBS for CG in the Netherlands is warranted because of the high false-positive rate, which may result in significant harm. Furthermore, a surprising 14% of newborns identified with CG by screening had previously unreported clinical and biochemical phenotypes and genotypes. For them, individualized prognostication and treatment are warranted, in order to avoid unnecessary stringent galactose restriction.
[Mh] Termos MeSH primário: Galactose/sangue
Galactosemias/diagnóstico
Triagem Neonatal/métodos
UTP-Hexose-1-Fosfato Uridililtransferase/metabolismo
[Mh] Termos MeSH secundário: Reações Falso-Positivas
Feminino
Galactosemias/genética
Galactosemias/metabolismo
Seres Humanos
Recém-Nascido
Masculino
Países Baixos
Fenótipo
Estudos Retrospectivos
Sensibilidade e Especificidade
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.7.10 (UTP-Hexose-1-Phosphate Uridylyltransferase); X2RN3Q8DNE (Galactose)
[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:170110
[St] Status:MEDLINE


  8 / 1877 MEDLINE  
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[PMID]:28057307
[Au] Autor:Daenzer JM; Fridovich-Keil JL
[Ad] Endereço:Emory University School of Medicine, Atlanta, GA, United States.
[Ti] Título:Drosophila melanogaster Models of Galactosemia.
[So] Source:Curr Top Dev Biol;121:377-395, 2017.
[Is] ISSN:1557-8933
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The galactosemias are a family of autosomal recessive genetic disorders resulting from impaired function of the Leloir pathway of galactose metabolism. Type I, or classic galactosemia, results from profound deficiency of galactose-1-phosphate uridylyltransferase, the second enzyme in the Leloir pathway. Type II galactosemia results from profound deficiency of galactokinase, the first enzyme in the Leloir pathway. Type III galactosemia results from partial deficiency of UDP galactose 4'-epimerase, the third enzyme in the Leloir pathway. Although at least classic galactosemia has been recognized clinically for more than 100 years, and detectable by newborn screening for more than 50 years, all three galactosemias remain poorly understood. Early detection and dietary restriction of galactose prevent neonatal lethality, but many affected infants grow to experience a broad range of developmental and other disabilities. To date, there is no intervention known that prevents or reverses these long-term complications. Drosophila melanogaster provides a genetically and biochemically facile model for these conditions, enabling studies that address mechanism and open the door for novel approaches to intervention.
[Mh] Termos MeSH primário: Modelos Animais de Doenças
Drosophila melanogaster/fisiologia
Galactosemias/patologia
UDPglucose 4-Epimerase/metabolismo
[Mh] Termos MeSH secundário: Animais
Galactoquinase/metabolismo
Galactose/metabolismo
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
EC 2.7.1.6 (Galactokinase); EC 5.1.3.2 (UDPglucose 4-Epimerase); X2RN3Q8DNE (Galactose)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:171115
[Lr] Data última revisão:
171115
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170107
[St] Status:MEDLINE


  9 / 1877 MEDLINE  
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[PMID]:27933355
[Au] Autor:Reimers CD; Hähnel S; Terborg C
[Ad] Endereço:MVZ Neurologie, Paracelsus-Klinik Bremen, In der Vahr 65, 28329, Bremen, Deutschland. c.d.reimers@outlook.de.
[Ti] Título:[Central myelination disorder in classical galactosemia : Case report of two sisters].
[Ti] Título:Zentrale Myelinisierungsstörung bei klassischer Galaktosämie : Fallbericht über zwei Schwestern..
[So] Source:Nervenarzt;88(2):188-190, 2017 Feb.
[Is] ISSN:1433-0407
[Cp] País de publicação:Germany
[La] Idioma:ger
[Mh] Termos MeSH primário: Doenças Autoimunes Desmielinizantes do Sistema Nervoso Central/diagnóstico por imagem
Doenças Autoimunes Desmielinizantes do Sistema Nervoso Central/etiologia
Galactosemias/complicações
Galactosemias/diagnóstico
Irmãos
[Mh] Termos MeSH secundário: Diagnóstico Diferencial
Feminino
Seres Humanos
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170321
[Lr] Data última revisão:
170321
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161210
[St] Status:MEDLINE
[do] DOI:10.1007/s00115-016-0260-4


  10 / 1877 MEDLINE  
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[PMID]:27789348
[Au] Autor:McAuley M; Huang M; Timson DJ
[Ad] Endereço:School of Biological Sciences, Queen's University Belfast, Medical Biology Building, 97 Lisburn Road, Belfast BT9 7BL, UK.
[Ti] Título:Insight into the mechanism of galactokinase: Role of a critical glutamate residue and helix/coil transitions.
[So] Source:Biochim Biophys Acta;1865(3):321-328, 2017 03.
[Is] ISSN:0006-3002
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Galactokinase, the enzyme which catalyses the first committed step in the Leloir pathway, has attracted interest due to its potential as a biocatalyst and as a possible drug target in the treatment of type I galactosemia. The mechanism of the enzyme is not fully elucidated. Molecular dynamics (MD) simulations of galactokinase with the active site residues Arg-37 and Asp-186 altered predicted that two regions (residues 174-179 and 231-240) had different dynamics as a consequence. Interestingly, the same two regions were also affected by alterations in Arg-105, Glu-174 and Arg-228. These three residues were identified as important in catalysis in previous computational studies on human galactokinase. Alteration of Arg-105 to methionine resulted in a modest reduction in activity with little change in stability. When Arg-228 was changed to methionine, the enzyme's interaction with both ATP and galactose was affected. This variant was significantly less stable than the wild-type protein. Changing Glu-174 to glutamine (but not to aspartate) resulted in no detectable activity and a less stable enzyme. Overall, these combined in silico and in vitro studies demonstrate the importance of a negative charge at position 174 and highlight the critical role of the dynamics in to key regions of the protein. We postulate that these regions may be critical for mediating the enzyme's structure and function.
[Mh] Termos MeSH primário: Galactoquinase/metabolismo
Ácido Glutâmico/metabolismo
[Mh] Termos MeSH secundário: Trifosfato de Adenosina/metabolismo
Ácido Aspártico/metabolismo
Catálise
Domínio Catalítico/fisiologia
Galactose/metabolismo
Galactosemias/metabolismo
Seres Humanos
Metionina/metabolismo
Simulação de Dinâmica Molecular
Conformação Proteica
Especificidade por Substrato
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
30KYC7MIAI (Aspartic Acid); 3KX376GY7L (Glutamic Acid); 8L70Q75FXE (Adenosine Triphosphate); AE28F7PNPL (Methionine); EC 2.7.1.6 (Galactokinase); X2RN3Q8DNE (Galactose)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170926
[Lr] Data última revisão:
170926
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161030
[St] Status:MEDLINE



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