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[PMID]:29348113
[Au] Autor:Monticone S; Buffolo F; Tetti M; Veglio F; Pasini B; Mulatero P
[Ad] Endereço:Division of Internal Medicine and Hypertension UnitDepartment of Medical Sciences, University of Torino, Torino, Italy.
[Ti] Título:GENETICS IN ENDOCRINOLOGY: The expanding genetic horizon of primary aldosteronism.
[So] Source:Eur J Endocrinol;178(3):R101-R111, 2018 Mar.
[Is] ISSN:1479-683X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Aldosterone is the main mineralocorticoid hormone in humans and plays a key role in maintaining water and electrolyte homeostasis. Primary aldosteronism (PA), characterized by autonomous aldosterone overproduction by the adrenal glands, affects 6% of the general hypertensive population and can be either sporadic or familial. Aldosterone-producing adenoma (APA) and bilateral adrenal hyperplasia (BAH) are the two most frequent subtypes of sporadic PA and 4 forms of familial hyperaldosteronism (FH-I to FH-IV) have been identified. Over the last six years, the introduction of next-generation sequencing has significantly improved our understanding of the molecular mechanisms responsible for autonomous aldosterone overproduction in both sporadic and familial PA. Somatic mutations in four genes ( and ), differently implicated in intracellular ion homeostasis, have been identified in nearly 60% of the sporadic APAs. Germline mutations in and cause FH-III and FH-IV, respectively, while germline mutations in cause the rare PASNA syndrome, featuring primary aldosteronism seizures and neurological abnormalities. Further studies are warranted to identify the molecular mechanisms underlying BAH and FH-II, the most common forms of sporadic and familial PA whose molecular basis is yet to be uncovered.
[Mh] Termos MeSH primário: Canais de Cálcio Tipo L/genética
Canais de Potássio Corretores do Fluxo de Internalização Acoplados a Proteínas G/genética
Hiperaldosteronismo/genética
ATPases Transportadoras de Cálcio da Membrana Plasmática/genética
ATPase Trocadora de Sódio-Potássio/genética
[Mh] Termos MeSH secundário: Aldosterona/biossíntese
Variação Genética
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (CACNA1D protein, human); 0 (Calcium Channels, L-Type); 0 (G Protein-Coupled Inwardly-Rectifying Potassium Channels); 0 (KCNJ5 protein, human); 4964P6T9RB (Aldosterone); EC 3.6.1.- (ATP1A1 protein, human); EC 3.6.3.8 (ATP2B3 protein, human); EC 3.6.3.8 (Plasma Membrane Calcium-Transporting ATPases); EC 3.6.3.9 (Sodium-Potassium-Exchanging ATPase)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180222
[Lr] Data última revisão:
180222
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180120
[St] Status:MEDLINE
[do] DOI:10.1530/EJE-17-0946


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[PMID]:28714864
[Au] Autor:Lessard S; Gatof ES; Beaudoin M; Schupp PG; Sher F; Ali A; Prehar S; Kurita R; Nakamura Y; Baena E; Ledoux J; Oceandy D; Bauer DE; Lettre G
[Ad] Endereço:Montreal Heart Institute and Université de Montréal, Montréal, Québec, Canada.
[Ti] Título:An erythroid-specific ATP2B4 enhancer mediates red blood cell hydration and malaria susceptibility.
[So] Source:J Clin Invest;127(8):3065-3074, 2017 Aug 01.
[Is] ISSN:1558-8238
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The lack of mechanistic explanations for many genotype-phenotype associations identified by GWAS precludes thorough assessment of their impact on human health. Here, we conducted an expression quantitative trait locus (eQTL) mapping analysis in erythroblasts and found erythroid-specific eQTLs for ATP2B4, the main calcium ATPase of red blood cells (rbc). The same SNPs were previously associated with mean corpuscular hemoglobin concentration (MCHC) and susceptibility to severe malaria infection. We showed that Atp2b4-/- mice demonstrate increased MCHC, confirming ATP2B4 as the causal gene at this GWAS locus. Using CRISPR-Cas9, we fine mapped the genetic signal to an erythroid-specific enhancer of ATP2B4. Erythroid cells with a deletion of the ATP2B4 enhancer had abnormally high intracellular calcium levels. These results illustrate the power of combined transcriptomic, epigenomic, and genome-editing approaches in characterizing noncoding regulatory elements in phenotype-relevant cells. Our study supports ATP2B4 as a potential target for modulating rbc hydration in erythroid disorders and malaria infection.
[Mh] Termos MeSH primário: ATPases Transportadoras de Cálcio/genética
Eritrócitos/citologia
Predisposição Genética para Doença
Malária/genética
ATPases Transportadoras de Cálcio da Membrana Plasmática/genética
[Mh] Termos MeSH secundário: Animais
Sistemas CRISPR-Cas
Cálcio/metabolismo
ATPases Transportadoras de Cálcio/metabolismo
Mapeamento Cromossômico
Elementos Facilitadores Genéticos
Epigenômica
Eritroblastos/metabolismo
Perfilação da Expressão Gênica
Redes Reguladoras de Genes
Estudo de Associação Genômica Ampla
Células HEK293
Seres Humanos
Malária/metabolismo
Masculino
Camundongos
Camundongos Transgênicos
Fenótipo
ATPases Transportadoras de Cálcio da Membrana Plasmática/metabolismo
Polimorfismo de Nucleotídeo Único
Locos de Características Quantitativas
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.6.1.8 (ATP2B4 protein, human); EC 3.6.3.8 (Calcium-Transporting ATPases); EC 3.6.3.8 (PMCA4 protein, mouse); EC 3.6.3.8 (Plasma Membrane Calcium-Transporting ATPases); SY7Q814VUP (Calcium)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171101
[Lr] Data última revisão:
171101
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170718
[St] Status:MEDLINE


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[PMID]:28566538
[Au] Autor:Stafford N; Wilson C; Oceandy D; Neyses L; Cartwright EJ
[Ad] Endereço:Division of Cardiovascular Sciences, University of Manchester, Manchester, United Kingdom.
[Ti] Título:The Plasma Membrane Calcium ATPases and Their Role as Major New Players in Human Disease.
[So] Source:Physiol Rev;97(3):1089-1125, 2017 Jul 01.
[Is] ISSN:1522-1210
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The Ca extrusion function of the four mammalian isoforms of the plasma membrane calcium ATPases (PMCAs) is well established. There is also ever-increasing detail known of their roles in global and local Ca homeostasis and intracellular Ca signaling in a wide variety of cell types and tissues. It is becoming clear that the spatiotemporal patterns of expression of the PMCAs and the fact that their abundances and relative expression levels vary from cell type to cell type both reflect and impact on their specific functions in these cells. Over recent years it has become increasingly apparent that these genes have potentially significant roles in human health and disease, with PMCAs1-4 being associated with cardiovascular diseases, deafness, autism, ataxia, adenoma, and malarial resistance. This review will bring together evidence of the variety of tissue-specific functions of PMCAs and will highlight the roles these genes play in regulating normal physiological functions and the considerable impact the genes have on human disease.
[Mh] Termos MeSH primário: Sinalização do Cálcio
Cálcio/metabolismo
Membrana Celular/enzimologia
Doença/etiologia
ATPases Transportadoras de Cálcio da Membrana Plasmática/metabolismo
[Mh] Termos MeSH secundário: Animais
Doença/genética
Predisposição Genética para Doença
Variação Genética
Homeostase
Seres Humanos
Especificidade de Órgãos
Fenótipo
ATPases Transportadoras de Cálcio da Membrana Plasmática/química
ATPases Transportadoras de Cálcio da Membrana Plasmática/genética
Conformação Proteica
Relação Estrutura-Atividade
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
EC 3.6.3.8 (Plasma Membrane Calcium-Transporting ATPases); SY7Q814VUP (Calcium)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170828
[Lr] Data última revisão:
170828
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170602
[St] Status:MEDLINE
[do] DOI:10.1152/physrev.00028.2016


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[PMID]:28544176
[Au] Autor:Zhao J; Zhu X; Shrubsole MJ; Ness RM; Hibler EA; Cai Q; Long J; Chen Z; Jiang M; Kabagambe EK; Zhang B; Hou L; Smalley WE; Edwards TL; Giovannucci EL; Zheng W; Dai Q
[Ad] Endereço:Division of Epidemiology, Department of Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee.
[Ti] Título:Interactions between calcium intake and polymorphisms in genes essential for calcium reabsorption and risk of colorectal neoplasia in a two-phase study.
[So] Source:Mol Carcinog;56(10):2258-2266, 2017 Oct.
[Is] ISSN:1098-2744
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The SLC8A1 (solute carrier family 8, member 1) gene, encoding Na /Ca exchanger, is essential in regulating calcium reabsorption and homeostasis. Calcium homeostasis plays a key role in cell proliferation and apoptosis. We hypothesized that polymorphisms in five calcium-regulating genes (SLC8A1, ATP2B1, CALB1, CALB2, and CABP1) interact with calcium intake in relation to the risk of colorectal neoplasia. A two-phase (discovery and replication) study was conducted within the Tennessee Colorectal Polyp Study, including a total of 1275 cases and 2811 controls. In Phase I, we identified six out of 135 SNPs that significantly interacted with calcium intake in relation to adenoma risk. In Phase II, the calcium intake by rs4952490 (SLC8A1) interaction was replicated (P = 0.048). We found an inverse association between calcium intake (1000-2000 mg/day) and colorectal adenomas, particularly for multiple/advanced adenomas, among the G-allele carriers but not among homozygous carriers of the common variant (A) in rs4952490. In the joint analysis of SLC8A1, KCNJ1, and SLC12A1 SNPs, carriers of variant alleles in at least two genes and with calcium intake above the DRI (1000 mg/day) were approximately 30-57% less likely to have adenomas than those whose calcium intake was below the DRI. The association was stronger for multiple/advanced adenomas. No association was found among those who did not carry any variant alleles in these genes when calcium intake was below 2500 mg/day. These findings, if confirmed, may provide a new avenue for the personalized prevention of colorectal adenoma and cancer.
[Mh] Termos MeSH primário: Calbindina 1/genética
Calbindina 2/genética
Cálcio na Dieta/administração & dosagem
Neoplasias Colorretais/genética
ATPases Transportadoras de Cálcio da Membrana Plasmática/genética
Trocador de Sódio e Cálcio/genética
[Mh] Termos MeSH secundário: Adulto
Idoso
Feminino
Seres Humanos
Masculino
Meia-Idade
Variantes Farmacogenômicos
Polimorfismo de Nucleotídeo Único
Fatores de Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CALB1 protein, human); 0 (CALB2 protein, human); 0 (Calbindin 1); 0 (Calbindin 2); 0 (Calcium, Dietary); 0 (Sodium-Calcium Exchanger); 0 (sodium-calcium exchanger 1); EC 3.6.3.8 (ATP2B1 protein, human); EC 3.6.3.8 (Plasma Membrane Calcium-Transporting ATPases)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171004
[Lr] Data última revisão:
171004
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170526
[St] Status:MEDLINE
[do] DOI:10.1002/mc.22678


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[PMID]:28527708
[Au] Autor:Dalghi MG; Ferreira-Gomes M; Montalbetti N; Simonin A; Strehler EE; Hediger MA; Rossi JP
[Ad] Endereço:IQUIFIB - Instituto de Química y Fisicoquímica Biológicas, Conicet/UBA, Junín 956, 1113 Buenos Aires, Argentina; Institute of Biochemistry and Molecular Medicine, Swiss National Centre of Competence in Research, NCCR TransCure, University of Bern, Bühlstrasse 28, 3012 Bern, Switzerland. Electronic a
[Ti] Título:Cortical cytoskeleton dynamics regulates plasma membrane calcium ATPase isoform-2 (PMCA2) activity.
[So] Source:Biochim Biophys Acta;1864(8):1413-1424, 2017 08.
[Is] ISSN:0006-3002
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:We have previously shown that purified actin can directly bind to human plasma membrane Ca ATPase 4b (hPMCA4b) and exert a dual modulation on its Ca -ATPase activity: F-actin inhibits PMCA while short actin oligomers may contribute to PMCA activation. These studies had to be performed with purified proteins given the nature of the biophysical and biochemical approaches used. To assess whether a functional interaction between the PMCAs and the cortical cytoskeleton is of physiological relevance, we characterized this phenomenon in the context of a living cell by monitoring in real-time the changes in the cytosolic calcium levels ([Ca ] ). In this study, we tested the influence of drugs that change the actin and microtubule polymerization state on the activity and membrane expression of the PMCA transiently expressed in human embryonic kidney (HEK293) cells, which allowed us to observe and quantify these relationships in a live cell, for the first time. We found that disrupting the actin cytoskeleton with cytochalasin D significantly increased PMCA-mediated Ca extrusion (~50-100%) whereas pre-treatment with the F-actin stabilizing agent jasplakinolide caused its full inhibition. When the microtubule network was disrupted by pretreatment of the cells with colchicine, we observed a significant decrease in PMCA activity (~40-60% inhibition) in agreement with the previously reported role of acetylated tubulin on the calcium pump. In none of these cases was there a difference in the level of expression of the pump at the cell surface, thus suggesting that the specific activity of the pump was the regulated parameter. Our results indicate that PMCA activity is profoundly affected by the polymerization state of the cortical cytoskeleton in living cells.
[Mh] Termos MeSH primário: Citoesqueleto de Actina/metabolismo
Sinalização do Cálcio/efeitos dos fármacos
Cálcio/metabolismo
Membrana Celular/metabolismo
Microtúbulos/metabolismo
ATPases Transportadoras de Cálcio da Membrana Plasmática/metabolismo
[Mh] Termos MeSH secundário: Citoesqueleto de Actina/efeitos dos fármacos
Citoesqueleto de Actina/ultraestrutura
Actinas/genética
Actinas/metabolismo
Membrana Celular/efeitos dos fármacos
Membrana Celular/ultraestrutura
Colchicina/farmacologia
Citocalasina D/farmacologia
Depsipeptídeos/farmacologia
Regulação da Expressão Gênica
Células HEK293
Seres Humanos
Microtúbulos/efeitos dos fármacos
Microtúbulos/ultraestrutura
ATPases Transportadoras de Cálcio da Membrana Plasmática/antagonistas & inibidores
ATPases Transportadoras de Cálcio da Membrana Plasmática/genética
Imagem com Lapso de Tempo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Actins); 0 (Depsipeptides); 102396-24-7 (jasplakinolide); 22144-77-0 (Cytochalasin D); EC 3.6.3.8 (ATP2B2 protein, human); EC 3.6.3.8 (Plasma Membrane Calcium-Transporting ATPases); SML2Y3J35T (Colchicine); SY7Q814VUP (Calcium)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171004
[Lr] Data última revisão:
171004
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170522
[St] Status:MEDLINE


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[PMID]:28487411
[Au] Autor:Rajman M; Metge F; Fiore R; Khudayberdiev S; Aksoy-Aksel A; Bicker S; Ruedell Reschke C; Raoof R; Brennan GP; Delanty N; Farrell MA; O'Brien DF; Bauer S; Norwood B; Veno MT; Krüger M; Braun T; Kjems J; Rosenow F; Henshall DC; Dieterich C; Schratt G
[Ad] Endereço:Biochemisch-Pharmakologisches Centrum, Institut für Physiologische Chemie, Philipps-Universität Marburg, Marburg, Germany.
[Ti] Título:A microRNA-129-5p/Rbfox crosstalk coordinates homeostatic downscaling of excitatory synapses.
[So] Source:EMBO J;36(12):1770-1787, 2017 Jun 14.
[Is] ISSN:1460-2075
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Synaptic downscaling is a homeostatic mechanism that allows neurons to reduce firing rates during chronically elevated network activity. Although synaptic downscaling is important in neural circuit development and epilepsy, the underlying mechanisms are poorly described. We performed small RNA profiling in picrotoxin (PTX)-treated hippocampal neurons, a model of synaptic downscaling. Thereby, we identified eight microRNAs (miRNAs) that were increased in response to PTX, including miR-129-5p, whose inhibition blocked synaptic downscaling and reduced epileptic seizure severity Using transcriptome, proteome, and bioinformatic analysis, we identified the calcium pump Atp2b4 and doublecortin (Dcx) as miR-129-5p targets. Restoring Atp2b4 and Dcx expression was sufficient to prevent synaptic downscaling in PTX-treated neurons. Furthermore, we characterized a functional crosstalk between miR-129-5p and the RNA-binding protein (RBP) Rbfox1. In the absence of PTX, Rbfox1 promoted the expression of Atp2b4 and Dcx. Upon PTX treatment, Rbfox1 expression was downregulated by miR-129-5p, thereby allowing the repression of Atp2b4 and Dcx. We therefore identified a novel activity-dependent miRNA/RBP crosstalk during synaptic scaling, with potential implications for neural network homeostasis and epileptogenesis.
[Mh] Termos MeSH primário: Regulação da Expressão Gênica
MicroRNAs/metabolismo
Fatores de Processamento de RNA/metabolismo
Sinapses/fisiologia
[Mh] Termos MeSH secundário: Animais
Biologia Computacional
Perfilação da Expressão Gênica
Hipocampo/efeitos dos fármacos
Hipocampo/fisiologia
Camundongos
Proteínas Associadas aos Microtúbulos/metabolismo
Neuropeptídeos/metabolismo
Picrotoxina/metabolismo
ATPases Transportadoras de Cálcio da Membrana Plasmática/metabolismo
Proteoma/análise
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (MIRN129 microRNA, mouse); 0 (MicroRNAs); 0 (Microtubule-Associated Proteins); 0 (Neuropeptides); 0 (Proteome); 0 (RNA Splicing Factors); 0 (Rbfox1 protein, mouse); 0 (doublecortin protein); 124-87-8 (Picrotoxin); EC 3.6.3.8 (Plasma Membrane Calcium-Transporting ATPases)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170717
[Lr] Data última revisão:
170717
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170511
[St] Status:MEDLINE
[do] DOI:10.15252/embj.201695748


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[PMID]:28388725
[Au] Autor:Yamazaki Y; Nakamura Y; Omata K; Ise K; Tezuka Y; Ono Y; Morimoto R; Nozawa Y; Gomez-Sanchez CE; Tomlins SA; Rainey WE; Ito S; Satoh F; Sasano H
[Ad] Endereço:Department of Pathology, and.
[Ti] Título:Histopathological Classification of Cross-Sectional Image-Negative Hyperaldosteronism.
[So] Source:J Clin Endocrinol Metab;102(4):1182-1192, 2017 Apr 01.
[Is] ISSN:1945-7197
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Context: Approximately half of patients with primary aldosteronism (PA) have clinically evident disease according to clinical (hypertension) and/or laboratory (aldosterone and renin levels) findings but do not have nodules detectable in routine cross-sectional imaging. However, the detailed histopathologic, steroidogenic, and pathobiological features of cross-sectional image-negative PA are controversial. Objective: To examine histopathology, steroidogenic enzyme expression, and aldosterone-driver gene somatic mutation status in cross-sectional image-negative hyperaldosteronism. Methods: Twenty-five cross-sectional image-negative cases were retrospectively reviewed. In situ adrenal aldosterone production capacity was determined using immunohistochemistry (IHC) of steroidogenic enzymes. Aldosterone-driver gene somatic mutation status (ATP1A1, ATP2B3, CACNA1D, and KCNJ5) was determined in the CYP11B2 immunopositive areas [n = 35; micronodule, n = 32; zona glomerulosa (ZG), n = 3] using next-generation sequencing after macrodissection. Results: Cases were classified as multiple adrenocortical micronodules (MN; n = 13) or diffuse hyperplasia (DH) of ZG (n = 12) based upon histopathological evaluation and CYP11B2 IHC. Aldosterone-driver gene somatic mutations were detected in 21 of 26 (81%) of CYP11B2-positive cortical micronodules in MN; 17 (65%) mutations were in CACNA1D, 2 (8%) in KCNJ5, and 1 each (4% each) in ATP1A1 and ATP2B. One of 6 (17%) of nodules in DH harbored somatic aldosterone-driver gene mutations (CACNA1D); however, no mutations were detected in CYP11B2-positive nonnodular DH areas. Conclusion: Morphologic evaluation and CYP11B2 IHC enabled the classification of cross-sectional image-negative hyperaldosteronism into MN and DH. Somatic mutations driving aldosterone overproduction are common in micronodules of MN, suggesting a histological entity possibly related to aldosterone-producing cell cluster development.
[Mh] Termos MeSH primário: Córtex Suprarrenal/patologia
Aldosterona/biossíntese
Hiperaldosteronismo/patologia
Mutação
[Mh] Termos MeSH secundário: Córtex Suprarrenal/metabolismo
Adulto
Idoso
Canais de Cálcio Tipo L/genética
Canais de Cálcio Tipo L/metabolismo
Feminino
Canais de Potássio Corretores do Fluxo de Internalização Acoplados a Proteínas G/genética
Canais de Potássio Corretores do Fluxo de Internalização Acoplados a Proteínas G/metabolismo
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Hiperaldosteronismo/genética
Hiperaldosteronismo/metabolismo
Imuno-Histoquímica
Masculino
Meia-Idade
ATPases Transportadoras de Cálcio da Membrana Plasmática/genética
ATPases Transportadoras de Cálcio da Membrana Plasmática/metabolismo
ATPase Trocadora de Sódio-Potássio/genética
ATPase Trocadora de Sódio-Potássio/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CACNA1D protein, human); 0 (Calcium Channels, L-Type); 0 (G Protein-Coupled Inwardly-Rectifying Potassium Channels); 0 (KCNJ5 protein, human); 4964P6T9RB (Aldosterone); EC 3.6.1.- (ATP1A1 protein, human); EC 3.6.3.8 (ATP2B3 protein, human); EC 3.6.3.8 (Plasma Membrane Calcium-Transporting ATPases); EC 3.6.3.9 (Sodium-Potassium-Exchanging ATPase)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170714
[Lr] Data última revisão:
170714
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170408
[St] Status:MEDLINE
[do] DOI:10.1210/jc.2016-2986


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[PMID]:28369073
[Au] Autor:Jeong J; Kim W; Kim LK; VanHouten J; Wysolmerski JJ
[Ad] Endereço:Section of Endocrinology and Metabolism, Department of Internal Medicine, Yale University School of Medicine, New Haven, Connecticut, United States of America.
[Ti] Título:HER2 signaling regulates HER2 localization and membrane retention.
[So] Source:PLoS One;12(4):e0174849, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:ErbB2/HER2/Neu is a receptor tyrosine kinase that is overexpressed in 25-30% of human breast cancers, usually associated with amplification of the ERBB2 gene. HER2 has no recognized ligands and heterodimers between HER2 and EGFR (ErbB1/HER1) or HER2 and ErbB3/HER3 are important in breast cancer. Unlike other ErbB family members, HER2 is resistant to internalization and degradation, and remains at the cell surface to signal for prolonged periods after it is activated. Although the mechanisms underlying retention of HER2 at the cell surface are not fully understood, prior studies have shown that, in order to avoid internalization, HER2 must interact with the chaperone, HSP90, and the calcium pump, PMCA2, within specific plasma membrane domains that protrude from the cell surface. In this report, we demonstrate that HER2 signaling, itself, is important for the formation and maintenance of membrane protrusions, at least in part, by maintaining PMCA2 expression and preventing increased intracellular calcium concentrations. Partial genetic knockdown of HER2 expression or pharmacologic inhibition of HER2 signaling causes the depletion of membrane protrusions and disruption of the interactions between HER2 and HSP90. This is associated with the ubiquitination of HER2, its internalization with EGFR or HER3, and its degradation. These results suggest a model by which some threshold of HER2 signaling is required for the formation and/or maintenance of multi-protein signaling complexes that reinforce and prolong HER2/EGFR or HER2/HER3 signaling by inhibiting HER2 ubiquitination and internalization.
[Mh] Termos MeSH primário: Membrana Celular/metabolismo
Receptor ErbB-2/metabolismo
[Mh] Termos MeSH secundário: Antineoplásicos/farmacologia
Apoptose/efeitos dos fármacos
Apoptose/fisiologia
Neoplasias da Mama/tratamento farmacológico
Neoplasias da Mama/metabolismo
Neoplasias da Mama/patologia
Cálcio/metabolismo
Linhagem Celular Tumoral
Membrana Celular/efeitos dos fármacos
Proliferação Celular/efeitos dos fármacos
Proliferação Celular/fisiologia
Técnicas de Silenciamento de Genes
Seres Humanos
Espaço Intracelular/efeitos dos fármacos
Espaço Intracelular/metabolismo
ATPases Transportadoras de Cálcio da Membrana Plasmática/genética
ATPases Transportadoras de Cálcio da Membrana Plasmática/metabolismo
Quinazolinas/farmacologia
RNA Interferente Pequeno
Receptor do Fator de Crescimento Epidérmico/metabolismo
Receptor ErbB-2/antagonistas & inibidores
Receptor ErbB-2/genética
Receptor ErbB-3/metabolismo
Ubiquitinação
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antineoplastic Agents); 0 (Quinazolines); 0 (RNA, Small Interfering); 0VUA21238F (lapatinib); EC 2.7.10.1 (EGFR protein, human); EC 2.7.10.1 (ERBB2 protein, human); EC 2.7.10.1 (ERBB3 protein, human); EC 2.7.10.1 (Receptor, Epidermal Growth Factor); EC 2.7.10.1 (Receptor, ErbB-2); EC 2.7.10.1 (Receptor, ErbB-3); EC 3.6.3.8 (ATP2B2 protein, human); EC 3.6.3.8 (Plasma Membrane Calcium-Transporting ATPases); SY7Q814VUP (Calcium)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170830
[Lr] Data última revisão:
170830
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170404
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0174849


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[PMID]:28327142
[Au] Autor:Basit S; Albalawi AM; Alharby E; Khoshhal KI
[Ad] Endereço:Centre for Genetics and Inherited Diseases, Taibah University, Almadinah Almunawwarah, 30001, Saudi Arabia. sbasit.phd@gmail.com.
[Ti] Título:Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hip.
[So] Source:BMC Med Genet;18(1):34, 2017 Mar 21.
[Is] ISSN:1471-2350
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Developmental dysplasia of the hip (DDH) is a common pathological condition of the musculoskeletal system in infants which results in a congenital and developmental malformation of the hip joint. DDH is a spectrum of pathologies affecting the infant hip ranging from asymptomatic subtle radiographic signs through mild instability to frank dislocations with acetabular dysplasia. A Saudi family with three affected individuals with DDH was identified and genetic analysis was performed to detect the possible genetic defect(s) underlying DDH in the affected members of the family. METHODS: We performed whole genome genotyping using Illumina HumanOmni 2.5 M array and whole exome sequencing (WES) using Nextera Rapid capture kit and Illumina NextSeq500 instrument in four individuals of a family with DDH. RESULTS: SNP data analysis did not identify any runs of homozygosity and copy number variations. Identity-by-descent (IBD) analysis on whole genome genotyping data identified a shared haplotypes on chromosome 1 in affected individuals. An analysis of the WES data identified rare heterozygous variants in HSPG2 and ATP2B4 genes in the affected individuals. Multiple prediction software predicted that the variants identified are damaging. Moreover, in silico analysis showed that HSPG2 regulates ATP2B4 expression using a variety of transcription factors. CONCLUSION: Our results indicate that there might be a functional epistatic interaction between HSPG2 and ATP2B4, and DDH in the family studied is due to a combined effect of both variants. These variants are also present in the asymptomatic mother suggesting that the variants in HSPG2 and ATP2B4 are incompletely penetrant. This study provides the first evidence of digenic inheritance of DDH in a family and extends the spectrum of genetic heterogeneity in this human disorder.
[Mh] Termos MeSH primário: Variação Genética
Proteoglicanas de Heparan Sulfato/genética
Luxação Congênita de Quadril/genética
ATPases Transportadoras de Cálcio da Membrana Plasmática/genética
[Mh] Termos MeSH secundário: Adulto
Alelos
Sequência de Bases
DNA/química
DNA/isolamento & purificação
DNA/metabolismo
Feminino
Testes Genéticos
Genótipo
Haplótipos
Heterozigoto
Luxação Congênita de Quadril/patologia
Seres Humanos
Masculino
Mutação de Sentido Incorreto
Linhagem
Fenótipo
Polimorfismo de Nucleotídeo Único
Análise de Sequência de DNA
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Heparan Sulfate Proteoglycans); 143972-95-6 (perlecan); 9007-49-2 (DNA); EC 3.6.1.8 (ATP2B4 protein, human); EC 3.6.3.8 (Plasma Membrane Calcium-Transporting ATPases)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170502
[Lr] Data última revisão:
170502
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170323
[St] Status:MEDLINE
[do] DOI:10.1186/s12881-017-0393-8


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[PMID]:28318299
[Au] Autor:Marchionatti AM; Pérez A; Rivoira MA; Rodríguez VA; Tolosa de Talamoni NG
[Ad] Endereço:Laboratorio "Dr. Fernando Cañas", Cátedra de Bioquímica y Biología Molecular, Facultad de Ciencias Médicas, INICSA (CONICET-Universidad Nacional de Córdoba), Pabellón Argentina, 2do. Piso, Ciudad Universitaria, 5000 Córdoba, Argentina.
[Ti] Título:Lithocholic acid: a new emergent protector of intestinal calcium absorption under oxidant conditions.
[So] Source:Biochem Cell Biol;95(2):273-279, 2017 Apr.
[Is] ISSN:1208-6002
[Cp] País de publicação:Canada
[La] Idioma:eng
[Ab] Resumo:LCA and 1,25(OH) D are vitamin D receptor ligands with different binding affinity. The secosteroid stimulates intestinal Ca absorption. Whether LCA alters this process remains unknown. The aim of our work was to determine the effect of LCA on intestinal Ca absorption in the absence or presence of NaDOC, bile acid that inhibits the cation transport. The data show that LCA by itself did not alter intestinal Ca absorption, but prevented the inhibitory effect of NaDOC. The concomitant administration of LCA avoided the reduction of intestinal alkaline phosphatase activity caused by NaDOC. In addition, LCA blocked a decrease caused by NaDOC on gene and protein expression of molecules involved in the transcellular pathway of intestinal Ca absorption. The oxidative stress and apoptosis triggered by NaDOC were abrogated by LCA co-treatment. In conclusion, LCA placed in the intestinal lumen protects intestinal Ca absorption against the inhibitory effects caused by NaDOC. LCA avoids the reduction of the transcellular Ca movement, apparently by blocking the oxidative stress and apoptosis triggered by NaDOC, normalizing the gene and protein expression of molecules involved in Ca movement. Therefore, LCA might become a possible treatment to improve intestinal calcium absorption under oxidant conditions.
[Mh] Termos MeSH primário: Cálcio/metabolismo
Ácido Desoxicólico/antagonistas & inibidores
Duodeno/efeitos dos fármacos
Enterócitos/efeitos dos fármacos
Absorção Intestinal/efeitos dos fármacos
Ácido Litocólico/farmacologia
[Mh] Termos MeSH secundário: Fosfatase Alcalina/genética
Fosfatase Alcalina/metabolismo
Animais
Animais Recém-Nascidos
Apoptose/efeitos dos fármacos
Calcitriol/metabolismo
Galinhas
Ácido Desoxicólico/farmacologia
Duodeno/metabolismo
Enterócitos/citologia
Enterócitos/metabolismo
Regulação da Expressão Gênica/efeitos dos fármacos
Absorção Intestinal/fisiologia
Transporte de Íons/efeitos dos fármacos
Mitocôndrias/efeitos dos fármacos
Mitocôndrias/metabolismo
Estresse Oxidativo
ATPases Transportadoras de Cálcio da Membrana Plasmática/genética
ATPases Transportadoras de Cálcio da Membrana Plasmática/metabolismo
Carbonilação Proteica/efeitos dos fármacos
Receptores de Calcitriol/genética
Receptores de Calcitriol/metabolismo
Trocador de Sódio e Cálcio/genética
Trocador de Sódio e Cálcio/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Receptors, Calcitriol); 0 (Sodium-Calcium Exchanger); 0 (sodium-calcium exchanger 1); 005990WHZZ (Deoxycholic Acid); 5QU0I8393U (Lithocholic Acid); EC 3.1.3.1 (Alkaline Phosphatase); EC 3.6.3.8 (Plasma Membrane Calcium-Transporting ATPases); FXC9231JVH (Calcitriol); SY7Q814VUP (Calcium)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170525
[Lr] Data última revisão:
170525
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170321
[St] Status:MEDLINE
[do] DOI:10.1139/bcb-2016-0164



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