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  1 / 1178 MEDLINE  
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[PMID]:29381936
[Au] Autor:Ye S; Dai T; Leng B; Tang L; Jin L; Cao L
[Ad] Endereço:Department of Neurology, Tianjin Huanhu Hospital.
[Ti] Título:Genotype and clinical course in 2 Chinese Han siblings with Wilson disease presenting with isolated disabling premature osteoarthritis: A case report.
[So] Source:Medicine (Baltimore);96(47):e8641, 2017 Nov.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:RATIONALE: Premature osteoarthritis (POA) is a rare condition in Wilson disease (WD). Particularly, when POA is the only complaint of a WD patient for a long time, there would be misdiagnosis or missed diagnosis and then treatment delay. PATIENT CONCERNS AND DIAGNOSIS: Two Chinese Han siblings were diagnosed as WD by corneal K-F rings, laboratory test, and mutation analysis. They presented with isolated POA during the first 2 decades or more of their disease course, and were of missed diagnosis during that long time. The older affected sib became disabled due to his severe osteoarthritis when he was as young as 38 years old. Two compound heterozygous pathogenic variants c.2790_2792del and c.2621C>T were revealed in the ATP7B gene through targeted next-generation sequencing (NGS). LESSONS: Adolescent-onset POA could be the only complaint of WD individual for at least 2 decades. Long delay in the treatment of WD's POA could lead to disability in early adulthood. Detailed physical examination, special biochemical test, and genotyping through targeted NGS should greatly reduce diagnosis delay in atypical WD patients with isolated POA phenotype.
[Mh] Termos MeSH primário: ATPases Transportadoras de Cobre/genética
Erros de Diagnóstico
Degeneração Hepatolenticular
Osteoartrite
Irmãos
Tempo para o Tratamento
[Mh] Termos MeSH secundário: Adulto
Idade de Início
China
Diagnóstico Tardio/efeitos adversos
Diagnóstico Tardio/prevenção & controle
Erros de Diagnóstico/efeitos adversos
Erros de Diagnóstico/prevenção & controle
Avaliação da Deficiência
Progressão da Doença
Degeneração Hepatolenticular/complicações
Degeneração Hepatolenticular/genética
Degeneração Hepatolenticular/fisiopatologia
Seres Humanos
Masculino
Anamnese
Mutação
Osteoartrite/diagnóstico
Osteoartrite/etiologia
Osteoartrite/fisiopatologia
Osteoartrite/prevenção & controle
Índice de Gravidade de Doença
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.6.3.54 (ATP7B protein, human); EC 3.6.3.54 (Copper-transporting ATPases)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180208
[Lr] Data última revisão:
180208
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180201
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000008641


  2 / 1178 MEDLINE  
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[PMID]:28855492
[Au] Autor:Tsuchiya M; Takaki R; Kobayashi F; Nagasaka T; Shindo K; Takiyama Y
[Ad] Endereço:Department of Neurology, Faculty of Medicine, University of Yamanashi.
[Ti] Título:Multiple pseudofractures due to Fanconi's syndrome associated with Wilson's disease.
[So] Source:Rinsho Shinkeigaku;57(9):527-530, 2017 09 30.
[Is] ISSN:1882-0654
[Cp] País de publicação:Japan
[La] Idioma:jpn
[Ab] Resumo:We report a 40-year-old man who presented with multiple bone pseudofractures after about 20 years from the onset of Wilson's disease (WD). At age 36, he first noticed pain in his left shoulder. At age 39, he had multiple chest pain. On neurologic examinations, dysarthria and dysphagia due to pseudobulbar palsy, rigidity and tremor on right upper lim were observed. WD was confirmed because of low levels of plasma cupper and ceruloplasmin in addition to ATP7B gene mutation. The chest X-ray revealed multiple fractures of the several ribs. We diagnosed osteomalacia due to Fanconi's syndrome because of hypophosphatemia and the impairment of renal tubules for WD. After administration of vitamin D, there happened no new bone pseudofractures. Although bone pseudofractures accompanied by Wilson's disease generally happen in childhood, we should be aware of this symptom even in adulthood.
[Mh] Termos MeSH primário: Síndrome de Fanconi/etiologia
Fraturas Múltiplas/etiologia
Degeneração Hepatolenticular/complicações
Fraturas das Costelas/etiologia
[Mh] Termos MeSH secundário: Adenosina Trifosfatases/genética
Adulto
Biomarcadores/sangue
Proteínas de Transporte de Cátions/genética
Ceruloplasmina
Cobre/sangue
ATPases Transportadoras de Cobre
Síndrome de Fanconi/diagnóstico
Fraturas Múltiplas/diagnóstico por imagem
Fraturas Múltiplas/tratamento farmacológico
Degeneração Hepatolenticular/diagnóstico
Seres Humanos
Masculino
Mutação
Osteomalacia/etiologia
Fraturas das Costelas/tratamento farmacológico
Tomografia Computadorizada por Raios X
Resultado do Tratamento
Vitamina D/administração & dosagem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (Cation Transport Proteins); 1406-16-2 (Vitamin D); 789U1901C5 (Copper); EC 1.16.3.1 (Ceruloplasmin); EC 3.6.1.- (Adenosine Triphosphatases); EC 3.6.3.54 (ATP7B protein, human); EC 3.6.3.54 (Copper-transporting ATPases)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170901
[St] Status:MEDLINE
[do] DOI:10.5692/clinicalneurol.cn-000953


  3 / 1178 MEDLINE  
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[PMID]:28674170
[Au] Autor:Moy JK; Khoutorsky A; Asiedu MN; Black BJ; Kuhn JL; Barragán-Iglesias P; Megat S; Burton MD; Burgos-Vega CC; Melemedjian OK; Boitano S; Vagner J; Gkogkas CG; Pancrazio JJ; Mogil JS; Dussor G; Sonenberg N; Price TJ
[Ad] Endereço:School of Behavioral and Brain Sciences, and.
[Ti] Título:The MNK-eIF4E Signaling Axis Contributes to Injury-Induced Nociceptive Plasticity and the Development of Chronic Pain.
[So] Source:J Neurosci;37(31):7481-7499, 2017 Aug 02.
[Is] ISSN:1529-2401
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Injury-induced sensitization of nociceptors contributes to pain states and the development of chronic pain. Inhibiting activity-dependent mRNA translation through mechanistic target of rapamycin and mitogen-activated protein kinase (MAPK) pathways blocks the development of nociceptor sensitization. These pathways convergently signal to the eukaryotic translation initiation factor (eIF) 4F complex to regulate the sensitization of nociceptors, but the details of this process are ill defined. Here we investigated the hypothesis that phosphorylation of the 5' cap-binding protein eIF4E by its specific kinase MAPK interacting kinases (MNKs) 1/2 is a key factor in nociceptor sensitization and the development of chronic pain. Phosphorylation of ser209 on eIF4E regulates the translation of a subset of mRNAs. We show that pronociceptive and inflammatory factors, such as nerve growth factor (NGF), interleukin-6 (IL-6), and carrageenan, produce decreased mechanical and thermal hypersensitivity, decreased affective pain behaviors, and strongly reduced hyperalgesic priming in mice lacking eIF4E phosphorylation ( ). Tests were done in both sexes, and no sex differences were found. Moreover, in patch-clamp electrophysiology and Ca imaging experiments on dorsal root ganglion neurons, NGF- and IL-6-induced increases in excitability were attenuated in neurons from mice. These effects were recapitulated in mice and with the MNK1/2 inhibitor cercosporamide. We also find that cold hypersensitivity induced by peripheral nerve injury is reduced in and mice and following cercosporamide treatment. Our findings demonstrate that the MNK1/2-eIF4E signaling axis is an important contributing factor to mechanisms of nociceptor plasticity and the development of chronic pain. Chronic pain is a debilitating disease affecting approximately one in three Americans. Chronic pain is thought to be driven by changes in the excitability of peripheral nociceptive neurons, but the precise mechanisms controlling these changes are not elucidated. Emerging evidence demonstrates that mRNA translation regulation pathways are key factors in changes in nociceptor excitability. Our work demonstrates that a single phosphorylation site on the 5' cap-binding protein eIF4E is a critical mechanism for changes in nociceptor excitability that drive the development of chronic pain. We reveal a new mechanistic target for the development of a chronic pain state and propose that targeting the upstream kinase, MAPK interacting kinase 1/2, could be used as a therapeutic approach for chronic pain.
[Mh] Termos MeSH primário: Adenosina Trifosfatases/metabolismo
Proteínas de Transporte de Cátions/metabolismo
Dor Crônica/fisiopatologia
Fator de Iniciação 4E em Eucariotos/metabolismo
Gânglios Espinais/fisiopatologia
Hiperalgesia/fisiopatologia
Plasticidade Neuronal
Nociceptividade
[Mh] Termos MeSH secundário: Animais
Dor Crônica/etiologia
ATPases Transportadoras de Cobre
Progressão da Doença
Feminino
Masculino
Camundongos
Camundongos Endogâmicos C57BL
Dor Nociceptiva/etiologia
Dor Nociceptiva/fisiopatologia
Células Receptoras Sensoriais/metabolismo
Transdução de Sinais
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cation Transport Proteins); 0 (Eukaryotic Initiation Factor-4E); 0 (eIF4E protein, mouse); EC 3.6.1.- (Adenosine Triphosphatases); EC 3.6.3.4 (Atp7a protein, mouse); EC 3.6.3.54 (Copper-transporting ATPases)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170705
[St] Status:MEDLINE
[do] DOI:10.1523/JNEUROSCI.0220-17.2017


  4 / 1178 MEDLINE  
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[PMID]:28435998
[Au] Autor:Ganesh R; Suresh N; Vasanthi T; Sathiyasekaran M; Thulasiraman R
[Ad] Endereço:Kanchi Kamakoti CHILDS Trust Hospital and The CHILDS Trust Medical Research Foundation, 12-A, Nageswara Road, Nungambakkam, Chennai, 600 034, India. ganeped79@rediffmail.com.
[Ti] Título:A 6-year-old boy with Wilson disease-A diagnostic dilemma.
[So] Source:Indian J Gastroenterol;36(2):149-154, 2017 Mar.
[Is] ISSN:0975-0711
[Cp] País de publicação:India
[La] Idioma:eng
[Ab] Resumo:A 6-year-old boy presented with 2 months history of progressive abdominal distension and jaundice. He was deeply icteric with ascites, hepatosplenomegaly, hyperbilirubinemia, raised transaminases, and coagulopathy. Viral markers and slit lamp examination for Kayser-Fleischer ring were negative. Serum ceruloplasmin and 24-h urinary copper post-D-pencillamine challenge were normal. Anti-smooth muscle antibody was positive 1:20, and liver biopsy showed micronodular cirrhosis with abundant Mallory hyaline and stainable copper deposits. The liver histology was indicative of Indian childhood cirrhosis, whereas the presence of autoantibodies, elevated transaminases, and increased globulin was suggestive of autoimmune hepatitis. Gene studies identified p.R969Q mutation in ATP7B gene, which solved the dilemma and confirmed the diagnosis of Wilson disease (WD). We report a clinicopathological conference of this boy to highlight the challenges faced by pediatricians in the diagnosis of Wilson disease. á…Ÿ.
[Mh] Termos MeSH primário: Adenosina Trifosfatases/genética
Proteínas de Transporte de Cátions/genética
Degeneração Hepatolenticular/diagnóstico
Degeneração Hepatolenticular/genética
Mutação
[Mh] Termos MeSH secundário: Autoanticorpos/sangue
Biomarcadores/sangue
Biomarcadores/metabolismo
Biópsia
Criança
Cobre/metabolismo
ATPases Transportadoras de Cobre
Testes Genéticos
Degeneração Hepatolenticular/patologia
Seres Humanos
Fígado/metabolismo
Fígado/patologia
Masculino
Músculo Liso/imunologia
Soroglobulinas/metabolismo
Transaminases/sangue
[Pt] Tipo de publicação:CASE REPORTS; CONGRESSES
[Nm] Nome de substância:
0 (Autoantibodies); 0 (Biomarkers); 0 (Cation Transport Proteins); 0 (Serum Globulins); 789U1901C5 (Copper); EC 2.6.1.- (Transaminases); EC 3.6.1.- (Adenosine Triphosphatases); EC 3.6.3.54 (ATP7B protein, human); EC 3.6.3.54 (Copper-transporting ATPases)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170425
[St] Status:MEDLINE
[do] DOI:10.1007/s12664-017-0746-4


  5 / 1178 MEDLINE  
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[PMID]:28428350
[Au] Autor:Muchenditsi A; Yang H; Hamilton JP; Koganti L; Housseau F; Aronov L; Fan H; Pierson H; Bhattacharjee A; Murphy R; Sears C; Potter J; Wooton-Kee CR; Lutsenko S
[Ad] Endereço:Department of Physiology, Johns Hopkins University, Baltimore, Maryland.
[Ti] Título:Targeted inactivation of copper transporter Atp7b in hepatocytes causes liver steatosis and obesity in mice.
[So] Source:Am J Physiol Gastrointest Liver Physiol;313(1):G39-G49, 2017 Jul 01.
[Is] ISSN:1522-1547
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Copper-transporting ATPase 2 (ATP7B) is essential for mammalian copper homeostasis. Mutations in result in copper accumulation, especially in the liver, and cause Wilson disease (WD). The major role of hepatocytes in WD pathology is firmly established. It is less certain whether the excess Cu in hepatocytes is solely responsible for development of WD. To address this issue, we generated a mouse strain for Cre-mediated deletion of Atp7b and inactivated Atp7b selectively in hepatocytes. mice accumulate copper in the liver, have elevated urinary copper, and lack holoceruloplasmin but show no liver disease for up to 30 wk. Liver inflammation is muted and markedly delayed compared with the age-matched null mice, which show a strong type1 inflammatory response. Expression of metallothioneins is higher in livers than in mice, suggesting better sequestration of excess copper. Characterization of purified cell populations also revealed that nonparenchymal cells in liver maintain Atp7b expression, have normal copper balance, and remain largely quiescent. The lack of inflammation unmasked metabolic consequences of copper misbalance in hepatocytes. animals weigh more than controls and have higher levels of liver triglycerides and 3-hydroxy-3-methyl-glutaryl-CoA (HMG-CoA) reductase. By 45 wk, all animals develop liver steatosis on a regular diet. Thus copper misbalance in hepatocytes dysregulates lipid metabolism, whereas development of inflammatory response in WD may depend on copper status of nonparenchymal cells. The implications of these findings for the cell-targeting WD therapies are discussed. Targeted inactivation of copper-transporting ATPase 2 (Atp7b) in hepatocytes causes steatosis in the absence of inflammation.
[Mh] Termos MeSH primário: Adenosina Trifosfatases/metabolismo
Proteínas de Transporte de Cátions/metabolismo
Fígado Gorduroso/etiologia
Regulação da Expressão Gênica/fisiologia
Hepatócitos/metabolismo
Obesidade/etiologia
[Mh] Termos MeSH secundário: Adenosina Trifosfatases/genética
Animais
Proteínas de Transporte de Cátions/genética
ATPases Transportadoras de Cobre
Hidroximetilglutaril-CoA Redutases/genética
Hidroximetilglutaril-CoA Redutases/metabolismo
Fígado/metabolismo
Camundongos
Camundongos Knockout
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cation Transport Proteins); EC 1.1.1.- (Hydroxymethylglutaryl CoA Reductases); EC 3.6.1.- (Adenosine Triphosphatases); EC 3.6.3.4 (Atp7a protein, mouse); EC 3.6.3.54 (Copper-transporting ATPases)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170422
[St] Status:MEDLINE
[do] DOI:10.1152/ajpgi.00312.2016


  6 / 1178 MEDLINE  
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[PMID]:28397223
[Au] Autor:Shi X; Lin X; Ke Z; Chen S; Wu B; Mo G
[Ad] Endereço:Department of Pediatrics, The First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian 350005, China. shixiaorong1@163.com.
[Ti] Título:[Analysis of clinical features and genetic mutations in a Chinese family affected with Menkes disease].
[So] Source:Zhonghua Yi Xue Yi Chuan Xue Za Zhi;34(2):220-223, 2017 Apr 10.
[Is] ISSN:1003-9406
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To delineate the clinical features and potential mutation of the ATP7A gene in a family affected with Menkes disease. METHODS: Clinical data of a patient and his family members were analyzed. Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) assays were performed to detect the mutation of the ATP7A gene. RESULTS: The patient was admitted at the age of 5 months due to severe epilepsy and marked delayed psychomotor development. Significantly light complexion, pudgy cheeks and sparse fuzzy wooly hair were noted. Cranial magnetic resonance imaging and angiography revealed cortical atrophy, leukoencephalopathy and circuitous of intracranial vessels. The plasma ceruloplasmin was decreased. MLPA has identified a deletion spanning exons 8 to 12 of the ATP7A gene. His mother was found to be a heterozygous carrier of the same mutation. CONCLUSION: The clinical features and a novel mutation of the ATP7A gene of the family have been delineated.
[Mh] Termos MeSH primário: Adenosina Trifosfatases/genética
Proteínas de Transporte de Cátions/genética
Síndrome dos Cabelos Torcidos/genética
[Mh] Termos MeSH secundário: Adulto
Grupo com Ancestrais do Continente Asiático/genética
China
ATPases Transportadoras de Cobre
Análise Mutacional de DNA
Éxons
Feminino
Heterozigoto
Seres Humanos
Lactente
Masculino
Mutação
Linhagem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cation Transport Proteins); EC 3.6.1.- (Adenosine Triphosphatases); EC 3.6.3.54 (ATP7A protein, human); EC 3.6.3.54 (Copper-transporting ATPases)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170412
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.1003-9406.2017.02.015


  7 / 1178 MEDLINE  
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[PMID]:28271632
[Au] Autor:Morrell A; Tallino S; Yu L; Burkhead JL
[Ad] Endereço:Department of Biological Sciences Anchorage, University of Alaska Anchorage, Anchorage, Alaska.
[Ti] Título:The role of insufficient copper in lipid synthesis and fatty-liver disease.
[So] Source:IUBMB Life;69(4):263-270, 2017 Apr.
[Is] ISSN:1521-6551
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:The essential transition metal copper is important in lipid metabolism, redox balance, iron mobilization, and many other critical processes in eukaryotic organisms. Genetic diseases where copper homeostasis is disrupted, including Menkes disease and Wilson disease, indicate the importance of copper balance to human health. The severe consequences of insufficient copper supply are illustrated by Menkes disease, caused by mutation in the X-linked ATP7A gene encoding a protein that transports copper from intestinal epithelia into the bloodstream and across the blood-brain barrier. Inadequate copper supply to the body due to poor diet quality or malabsorption can disrupt several molecular level pathways and processes. Though much of the copper distribution machinery has been described and consequences of disrupted copper handling have been characterized in human disease as well as animal models, physiological consequences of sub-optimal copper due to poor nutrition or malabsorption have not been extensively studied. Recent work indicates that insufficient copper may be important in a number of common diseases including obesity, ischemic heart disease, and metabolic syndrome. Specifically, marginal copper deficiency (CuD) has been reported as a potential etiologic factor in diseases characterized by disrupted lipid metabolism such as non-alcoholic fatty-liver disease (NAFLD). In this review, we discuss the available data suggesting that a significant portion of the North American population may consume insufficient copper, the potential mechanisms by which CuD may promote lipid biosynthesis, and the interaction between CuD and dietary fructose in the etiology of NAFLD. © 2016 IUBMB Life, 69(4):263-270, 2017.
[Mh] Termos MeSH primário: Cobre/metabolismo
Metabolismo dos Lipídeos/genética
Lipídeos/biossíntese
Hepatopatia Gordurosa não Alcoólica/metabolismo
[Mh] Termos MeSH secundário: Adenosina Trifosfatases/genética
Adenosina Trifosfatases/metabolismo
Barreira Hematoencefálica/metabolismo
Proteínas de Transporte de Cátions/genética
Proteínas de Transporte de Cátions/metabolismo
ATPases Transportadoras de Cobre
Dieta
Seres Humanos
Ferro/metabolismo
Lipídeos/genética
Fígado/metabolismo
Fígado/patologia
Síndrome dos Cabelos Torcidos/genética
Síndrome dos Cabelos Torcidos/metabolismo
Hepatopatia Gordurosa não Alcoólica/dietoterapia
Hepatopatia Gordurosa não Alcoólica/genética
Hepatopatia Gordurosa não Alcoólica/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Cation Transport Proteins); 0 (Lipids); 789U1901C5 (Copper); E1UOL152H7 (Iron); EC 3.6.1.- (Adenosine Triphosphatases); EC 3.6.3.54 (ATP7A protein, human); EC 3.6.3.54 (Copper-transporting ATPases)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170309
[St] Status:MEDLINE
[do] DOI:10.1002/iub.1613


  8 / 1178 MEDLINE  
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[PMID]:28271598
[Au] Autor:Yu CH; Dolgova NV; Dmitriev OY
[Ad] Endereço:Department of Biochemistry, University of Saskatchewan, Saskatoon, SK, Canada.
[Ti] Título:Dynamics of the metal binding domains and regulation of the human copper transporters ATP7B and ATP7A.
[So] Source:IUBMB Life;69(4):226-235, 2017 Apr.
[Is] ISSN:1521-6551
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Copper transporters ATP7A and ATP7B regulate copper levels in the human cells and deliver copper to the biosynthetic pathways. ATP7A and ATP7B belong to the P-type ATPases and share much of the domain architecture and the mechanism of ATP hydrolysis with the other, well-studied, enzymes of this type. A unique structural feature of the copper ATPases is the chain of six cytosolic metal-binding domains (MBDs), which are believed to be involved in copper-dependent regulation of the activity and intracellular localization of these enzymes. Although the structures of all the MBDs have been solved, the mechanism of copper-dependent regulation of ATP7B and ATP7A, the roles of individual MBDs, and the relationship between the regulatory and catalytic copper binding are still unknown. We describe the structure and dynamics of the MBDs, review the current knowledge about their functional roles and propose a mechanism of regulation of ATP7B by copper-dependent changes in the dynamics and conformation of the MBD chain. Transient interactions between the MBDs, rather than transitions between distinct static conformations are likely to form the structural basis of regulation of the ATP-dependent copper transporters in human cells. © 2016 IUBMB Life, 69(4):226-235, 2017.
[Mh] Termos MeSH primário: Adenosina Trifosfatases/química
Proteínas de Transporte de Cátions/química
Cobre/metabolismo
[Mh] Termos MeSH secundário: Adenosina Trifosfatases/metabolismo
Proteínas de Transporte/genética
Proteínas de Transporte/metabolismo
Proteínas de Transporte de Cátions/metabolismo
Cobre/química
ATPases Transportadoras de Cobre
Regulação da Expressão Gênica
Homeostase/genética
Seres Humanos
Conformação Proteica
Domínios Proteicos/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Carrier Proteins); 0 (Cation Transport Proteins); 0 (copper-binding protein); 789U1901C5 (Copper); EC 3.6.1.- (Adenosine Triphosphatases); EC 3.6.3.54 (ATP7A protein, human); EC 3.6.3.54 (ATP7B protein, human); EC 3.6.3.54 (Copper-transporting ATPases)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170309
[St] Status:MEDLINE
[do] DOI:10.1002/iub.1611


  9 / 1178 MEDLINE  
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[PMID]:28164426
[Au] Autor:Tadini-Buoninsegni F; Smeazzetto S
[Ad] Endereço:Department of Chemistry "Ugo Schiff,", University of Florence, Sesto Fiorentino, Italy.
[Ti] Título:Mechanisms of charge transfer in human copper ATPases ATP7A and ATP7B.
[So] Source:IUBMB Life;69(4):218-225, 2017 Apr.
[Is] ISSN:1521-6551
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:ATP7A and ATP7B are Cu -transporting ATPases of subclass IB and play a fundamental role in intracellular copper homeostasis. ATP7A/B transfer Cu ions across the membrane from delivery to acceptor proteins without establishing a free Cu gradient. Transfer of copper across the membrane is coupled to ATP hydrolysis. Current measurements on solid supported membranes (SSM) were performed to investigate the mechanism of copper-related charge transfer across ATP7A and ATP7B. SSM measurements demonstrated that electrogenic copper displacement occurs within ATP7A/B following addition of ATP and formation of the phosphorylated intermediate. Comparison of the time constants for cation displacement in ATP7A/B and sarcoplasmic reticulum Ca -ATPase is consistent with the slower phosphoenzyme formation in copper ATPases. Moreover, ATP-dependent copper transfer in ATP7A/B is not affected by varying the pH, suggesting that net proton counter-transport may not occur in copper ATPases. Platinum anticancer drugs activate ATP7A/B and are subjected to ATP-dependent vectorial displacement with a mechanism analogous to that of copper. © 2016 IUBMB Life, 69(4):218-225, 2017.
[Mh] Termos MeSH primário: Adenosina Trifosfatases/metabolismo
Proteínas de Transporte de Cátions/metabolismo
Cobre/metabolismo
Neoplasias/tratamento farmacológico
[Mh] Termos MeSH secundário: Adenosina Trifosfatases/genética
Antineoplásicos/administração & dosagem
Transporte Biológico/efeitos dos fármacos
Proteínas de Transporte de Cátions/genética
ATPases Transportadoras de Cobre
Homeostase/genética
Seres Humanos
Neoplasias/genética
Platina/administração & dosagem
Platina/química
ATPases Transportadoras de Cálcio do Retículo Sarcoplasmático/genética
ATPases Transportadoras de Cálcio do Retículo Sarcoplasmático/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Antineoplastic Agents); 0 (Cation Transport Proteins); 49DFR088MY (Platinum); 789U1901C5 (Copper); EC 3.6.1.- (Adenosine Triphosphatases); EC 3.6.3.54 (ATP7A protein, human); EC 3.6.3.54 (ATP7B protein, human); EC 3.6.3.54 (Copper-transporting ATPases); EC 3.6.3.8 (Sarcoplasmic Reticulum Calcium-Transporting ATPases)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170207
[St] Status:MEDLINE
[do] DOI:10.1002/iub.1603


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[PMID]:28119449
[Au] Autor:Mercer SW; Wang J; Burke R
[Ad] Endereço:From the School of Biological Sciences, Monash University, Clayton, Victoria 3800, Australia.
[Ti] Título: Modeling of the Pathogenic Effect of Copper Transporter Mutations That Cause Menkes and Wilson Diseases, Motor Neuropathy, and Susceptibility to Alzheimer's Disease.
[So] Source:J Biol Chem;292(10):4113-4122, 2017 Mar 10.
[Is] ISSN:1083-351X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Copper is an essential biometal, and several inherited diseases are directly associated with a disruption to normal copper homeostasis. The best characterized are the copper deficiency and toxicity disorders Menkes and Wilson diseases caused by mutations in the p-type Cu-ATPase genes and , respectively. Missense mutations in the C-terminal portion of have also been shown to cause distal motor neuropathy, whereas polymorphisms in are associated with increased risk of Alzheimer's disease. We have generated a single, model for studying multiple pathogenic mutations in ATP7 proteins using , which has a single orthologue of ATP7A and ATP7B. Four pathogenic mutations and two mutations were introduced into a genomic rescue construct containing an in-frame C-terminal GFP tag. Analysis of the wild type transgene confirmed that ATP7 is expressed at the basolateral membrane of larval midgut copper cells and that the transgene can rescue a normally early lethal deletion allele to adulthood. Analysis of the transgenes containing pathogenic mutations showed that the function of ATP7 was affected, to varying degrees, by all six of the mutations investigated in this study. Of particular interest, the ATP7B Alzheimer's disease susceptibility allele was found, for the first time, to be a loss of function allele. This system allows us to assess the severity of individual / mutations in an invariant genetic background and has the potential to be used to screen for therapeutic compounds able to restore function to faulty copper transport proteins.
[Mh] Termos MeSH primário: Doença de Alzheimer/etiologia
Proteínas de Transporte de Cátions/genética
Drosophila melanogaster/genética
Degeneração Hepatolenticular/etiologia
Síndrome dos Cabelos Torcidos/etiologia
Neurônios Motores/patologia
Mutação/genética
[Mh] Termos MeSH secundário: Animais
ATPases Transportadoras de Cobre
Modelos Animais de Doenças
Drosophila melanogaster/crescimento & desenvolvimento
Drosophila melanogaster/metabolismo
Feminino
Masculino
Neurônios Motores/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ATP7 protein, Drosophila); 0 (Cation Transport Proteins); EC 3.6.3.54 (Copper-transporting ATPases)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170126
[St] Status:MEDLINE
[do] DOI:10.1074/jbc.M116.756163



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