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Pesquisa : D12.776.157.530.100.209.500 [Categoria DeCS]
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[PMID]:29243459
[Au] Autor:Ylikallio E; Rahikkala E; Keski-Filppula R; Auranen M; Tyynismaa H
[Ti] Título:Adrenomyeloneuropathy due to mutation in the ABCD1 gene as underlying factor in spastic paraparesis.
[So] Source:Duodecim;133(7):683-7, 2017.
[Is] ISSN:0012-7183
[Cp] País de publicação:Finland
[La] Idioma:eng
[Ab] Resumo:We present a Finnish family in which adrenomyeloneuropathy (AMN) caused by the mutation in the ABCD1 gene was revealed as the cause of spastic paraparesis. . Two patients had hypoadrenalism, which is in some cases some associated with the disease . AMN is a hereditary disease manifested both in men and women. but owing to the location of the gene in the X chromosome the symptoms are usually more severe in male patients. . Diagnoses was trucked down with gene-panel sequencing and confirmed through detection of an elevated level of very long-chain fatty acids in the serum of the patients. Specific molecular genetic diagnosis is beneficial, because it enables precise genetic counseling as well as recognition and treatment of associated symptoms, such as severe cortisol deficiency.
[Mh] Termos MeSH primário: Membro 1 da Subfamília D de Transportadores de Cassetes de Ligação de ATP/genética
Adrenoleucodistrofia/genética
Paraparesia Espástica/genética
[Mh] Termos MeSH secundário: Adulto
Idoso
Feminino
Finlândia
Seres Humanos
Masculino
Mutação
Linhagem
Fenótipo
Análise de Sequência de DNA
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ABCD1 protein, human); 0 (ATP Binding Cassette Transporter, Sub-Family D, Member 1)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180115
[Lr] Data última revisão:
180115
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171216
[St] Status:MEDLINE


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[PMID]:28456143
[Au] Autor:Horikawa Y; Enya M; Yoshikura N; Kitagawa J; Takashima S; Shimozawa N; Takeda J
[Ad] Endereço:Department of Diabetes and Endocrinology, Gifu University Graduate School of Medicine, 1-1 Yanagido, Gifu, Japan.
[Ti] Título:A first case of adrenomyeloneuropathy with mutation Y174S of the adrenoleukodystrophy gene.
[So] Source:Neuro Endocrinol Lett;38(1):13-18, 2017 Feb.
[Is] ISSN:0172-780X
[Cp] País de publicação:Sweden
[La] Idioma:eng
[Ab] Resumo:The patient first noticed spasticity and weakness in his legs. He was diagnosed with chronic myelogenous leukemia (CML); the symptoms were attributed to neuropathy associated with CML. By treatment with dasatinib, he achieved complete hematological remission, but his difficulty in walking was not improved. His neurological symptom worsened together with an increase in body temperature and then disappeared together with a normalized body temperature, which may be attributed to the Uhthoff's phenomenon often observed in multiple sclerosis. He later developed acute fever, vomiting and a high adrenocorticotropic hormone (ACTH) level, which was diagnosed as adrenal insufficiency. Eventually, he was diagnosed with a milder form of adrenoleukodystrophy (ALD), adrenomyeloneuropathy (AMN) by increased levels of Very Long Chain Fatty Acids (VLCFAs) and genetic testing of the ATP binding cassette subfamily D member 1 (ABCD1) gene. A missense mutation (c.521A>C, p.Tyr174Ser), previously reported to induce severe cerebral ALD, was detected in exon1. Thus, clinical manifestation of ALD is determined by interaction between the primary ABCD1 mutation and modifying genetic and environmental factors. Physicians should be aware of the differing symptoms of AMN and determine the level of VLCFAs in patients having primary adrenal insufficiency, especially those complicated with neurological dysfunction. This is the first report of an AMN patient complicated with CML.
[Mh] Termos MeSH primário: Transportadores de Cassetes de Ligação de ATP/genética
Insuficiência Adrenal/etiologia
Adrenoleucodistrofia/complicações
Leucemia Mielogênica Crônica BCR-ABL Positiva/complicações
Mutação de Sentido Incorreto
[Mh] Termos MeSH secundário: Membro 1 da Subfamília D de Transportadores de Cassetes de Ligação de ATP
Insuficiência Adrenal/diagnóstico
Insuficiência Adrenal/genética
Insuficiência Adrenal/metabolismo
Adrenoleucodistrofia/diagnóstico
Adrenoleucodistrofia/genética
Adrenoleucodistrofia/metabolismo
Antineoplásicos/uso terapêutico
Encéfalo/diagnóstico por imagem
Dasatinibe/uso terapêutico
Ácidos Graxos/metabolismo
Interação Gene-Ambiente
Seres Humanos
Leucemia Mielogênica Crônica BCR-ABL Positiva/tratamento farmacológico
Imagem por Ressonância Magnética
Masculino
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ABCD1 protein, human); 0 (ATP Binding Cassette Transporter, Sub-Family D, Member 1); 0 (ATP-Binding Cassette Transporters); 0 (Antineoplastic Agents); 0 (Fatty Acids); RBZ1571X5H (Dasatinib)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171213
[Lr] Data última revisão:
171213
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170501
[St] Status:MEDLINE


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[PMID]:28976817
[Au] Autor:Eichler F; Duncan C; Musolino PL; Orchard PJ; De Oliveira S; Thrasher AJ; Armant M; Dansereau C; Lund TC; Miller WP; Raymond GV; Sankar R; Shah AJ; Sevin C; Gaspar HB; Gissen P; Amartino H; Bratkovic D; Smith NJC; Paker AM; Shamir E; O'Meara T; Davidson D; Aubourg P; Williams DA
[Ad] Endereço:From Massachusetts General Hospital and Harvard Medical School (F.E., P.L.M.), Dana-Farber and Boston Children's Cancer and Blood Disorders Center (C. Duncan, M.A., C. Dansereau, D.A.W.), and Boston Children's Hospital, Harvard Medical School, and Harvard Stem-Cell Institute (D.A.W.), Boston, and Bl
[Ti] Título:Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.
[So] Source:N Engl J Med;377(17):1630-1638, 2017 10 26.
[Is] ISSN:1533-4406
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: In X-linked adrenoleukodystrophy, mutations in ABCD1 lead to loss of function of the ALD protein. Cerebral adrenoleukodystrophy is characterized by demyelination and neurodegeneration. Disease progression, which leads to loss of neurologic function and death, can be halted only with allogeneic hematopoietic stem-cell transplantation. METHODS: We enrolled boys with cerebral adrenoleukodystrophy in a single-group, open-label, phase 2-3 safety and efficacy study. Patients were required to have early-stage disease and gadolinium enhancement on magnetic resonance imaging (MRI) at screening. The investigational therapy involved infusion of autologous CD34+ cells transduced with the elivaldogene tavalentivec (Lenti-D) lentiviral vector. In this interim analysis, patients were assessed for the occurrence of graft-versus-host disease, death, and major functional disabilities, as well as changes in neurologic function and in the extent of lesions on MRI. The primary end point was being alive and having no major functional disability at 24 months after infusion. RESULTS: A total of 17 boys received Lenti-D gene therapy. At the time of the interim analysis, the median follow-up was 29.4 months (range, 21.6 to 42.0). All the patients had gene-marked cells after engraftment, with no evidence of preferential integration near known oncogenes or clonal outgrowth. Measurable ALD protein was observed in all the patients. No treatment-related death or graft-versus-host disease had been reported; 15 of the 17 patients (88%) were alive and free of major functional disability, with minimal clinical symptoms. One patient, who had had rapid neurologic deterioration, had died from disease progression. Another patient, who had had evidence of disease progression on MRI, had withdrawn from the study to undergo allogeneic stem-cell transplantation and later died from transplantation-related complications. CONCLUSIONS: Early results of this study suggest that Lenti-D gene therapy may be a safe and effective alternative to allogeneic stem-cell transplantation in boys with early-stage cerebral adrenoleukodystrophy. Additional follow-up is needed to fully assess the duration of response and long-term safety. (Funded by Bluebird Bio and others; STARBEAM ClinicalTrials.gov number, NCT01896102 ; ClinicalTrialsRegister.eu number, 2011-001953-10 .).
[Mh] Termos MeSH primário: Transportadores de Cassetes de Ligação de ATP/uso terapêutico
Adrenoleucodistrofia/terapia
Terapia Genética
Vetores Genéticos
Transplante de Células-Tronco Hematopoéticas
Lentivirus
[Mh] Termos MeSH secundário: Membro 1 da Subfamília D de Transportadores de Cassetes de Ligação de ATP
Transportadores de Cassetes de Ligação de ATP/genética
Adolescente
Adrenoleucodistrofia/genética
Antígenos CD34/sangue
Biomarcadores/sangue
Criança
Terapia Combinada
Vetores Genéticos/sangue
Fator Estimulador de Colônias de Granulócitos/uso terapêutico
Células-Tronco Hematopoéticas/imunologia
Seres Humanos
Masculino
Reação em Cadeia da Polimerase
Transplante Autólogo
[Pt] Tipo de publicação:CLINICAL TRIAL, PHASE II; CLINICAL TRIAL, PHASE III; JOURNAL ARTICLE; MULTICENTER STUDY
[Nm] Nome de substância:
0 (ABCD1 protein, human); 0 (ATP Binding Cassette Transporter, Sub-Family D, Member 1); 0 (Antigens, CD34); 0 (Biomarkers); 143011-72-7 (Granulocyte Colony-Stimulating Factor)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171126
[Lr] Data última revisão:
171126
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171005
[Cl] Clinical Trial:ClinicalTrial
[St] Status:MEDLINE
[do] DOI:10.1056/NEJMoa1700554


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[PMID]:28481932
[Au] Autor:Chen YH; Lee YC; Tsai YS; Guo YC; Hsiao CT; Tsai PC; Huang JA; Liao YC; Soong BW
[Ad] Endereço:Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan.
[Ti] Título:Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia.
[So] Source:PLoS One;12(5):e0177296, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Adrenoleukodystrophy (ALD) is a rare and progressive neurogenetic disease that may manifest disparate symptoms. The present study aims at investigating the role of ataxic variant of ALD (AVALD) in patients with adult-onset cerebellar ataxia, as well as characterizing their clinical features that distinguish AVALD from other cerebellar ataxias. Mutations in the ATP binding cassette subfamily D member 1 gene (ABCD1) were ascertained in 516 unrelated patients with ataxia. The patients were categorized into three groups: molecularly unassigned hereditary ataxia (n = 118), sporadic ataxia with autonomic dysfunctions (n = 296), and sporadic ataxia without autonomic dysfunctions (n = 102). Brain MRIs were scrutinized for white matter hyperintensity (WMH) in the parieto-occipital lobes, frontal lobes, corticospinal tracts, pons, middle cerebellar peduncles and cerebellar hemispheres. Two ABCD1 mutations (p.S108L and p.P623fs) previously linked to cerebral ALD and adrenomyeloneuropathy but not AVALD were identified. ALD accounts for 0.85% (1/118) of the patients with molecularly unassigned hereditary ataxia and 0.34% (1/296) of the patients with sporadic ataxia with autonomic dysfunctions. WMH in the corticospinal tracts and WMH in the cerebellar hemispheres were strongly associated with AVALD rather than other ataxias. To conclude, ALD accounts for approximately 0.39% (2/516) of adult-onset cerebellar ataxias. This study expands the mutational spectrum of AVALD and underscores the importance of considering ALD as a potential etiology of cerebellar ataxia.
[Mh] Termos MeSH primário: Adrenoleucodistrofia/diagnóstico
Ataxia Cerebelar/complicações
[Mh] Termos MeSH secundário: Membro 1 da Subfamília D de Transportadores de Cassetes de Ligação de ATP
Transportadores de Cassetes de Ligação de ATP/genética
Adrenoleucodistrofia/complicações
Adrenoleucodistrofia/genética
Adulto
Estudos de Coortes
Feminino
Seres Humanos
Imagem por Ressonância Magnética
Masculino
Meia-Idade
Mutação
Linhagem
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ABCD1 protein, human); 0 (ATP Binding Cassette Transporter, Sub-Family D, Member 1)
[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:170509
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0177296


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[PMID]:28258215
[Au] Autor:Geillon F; Gondcaille C; Raas Q; Dias AMM; Pecqueur D; Truntzer C; Lucchi G; Ducoroy P; Falson P; Savary S; Trompier D
[Ad] Endereço:From the Laboratoire Bio-PeroxIL EA7270 and.
[Ti] Título:Peroxisomal ATP-binding cassette transporters form mainly tetramers.
[So] Source:J Biol Chem;292(17):6965-6977, 2017 Apr 28.
[Is] ISSN:1083-351X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:ABCD1 and its homolog ABCD2 are peroxisomal ATP-binding cassette (ABC) half-transporters of fatty acyl-CoAs with both distinct and overlapping substrate specificities. Although it is established that ABC half-transporters have at least to dimerize to generate a functional unit, functional equivalents of tetramers ( dimers of full-length transporters) have also been reported. However, oligomerization of peroxisomal ABCD transporters is incompletely understood but is of potential significance because more complex oligomerization might lead to differences in substrate specificity. In this work, we have characterized the quaternary structure of the ABCD1 and ABCD2 proteins in the peroxisomal membrane. Using various biochemical approaches, we clearly demonstrate that both transporters exist as both homo- and heterotetramers, with a predominance of homotetramers. In addition to tetramers, some larger molecular ABCD assemblies were also found but represented only a minor fraction. By using quantitative co-immunoprecipitation assays coupled with tandem mass spectrometry, we identified potential binding partners of ABCD2 involved in polyunsaturated fatty-acid metabolism. Interestingly, we identified calcium ATPases as ABCD2-binding partners, suggesting a role of ABCD2 in calcium signaling. In conclusion, we have shown here that ABCD1 and its homolog ABCD2 exist mainly as homotetramers in the peroxisomal membrane.
[Mh] Termos MeSH primário: Transportadores de Cassetes de Ligação de ATP/metabolismo
Peroxissomos/metabolismo
[Mh] Termos MeSH secundário: Subfamília D de Transportador de Cassetes de Ligação de ATP
Membro 1 da Subfamília D de Transportadores de Cassetes de Ligação de ATP
Trifosfato de Adenosina/metabolismo
Animais
Células COS
Sinalização do Cálcio
ATPases Transportadoras de Cálcio/metabolismo
Carcinoma Hepatocelular/metabolismo
Linhagem Celular
Cercopithecus aethiops
Proteínas de Fluorescência Verde/metabolismo
Neoplasias Hepáticas/metabolismo
Espectrometria de Massas
Camundongos
Ligação Proteica
Mapeamento de Interação de Proteínas
Estrutura Quaternária de Proteína
Transporte Proteico
Ratos
Espectrometria de Massas em Tandem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ABCD1 protein, rat); 0 (ABCD2 protein, mouse); 0 (ATP Binding Cassette Transporter, Sub-Family D); 0 (ATP Binding Cassette Transporter, Sub-Family D, Member 1); 0 (Abcd1 protein, mouse); 0 (Abcd2 protein, rat); 147336-22-9 (Green Fluorescent Proteins); 8L70Q75FXE (Adenosine Triphosphate); EC 3.6.3.8 (Calcium-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:170305
[St] Status:MEDLINE
[do] DOI:10.1074/jbc.M116.772806


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[PMID]:28200172
[Au] Autor:Hartley MD; Kirkemo LL; Banerji T; Scanlan TS
[Ad] Endereço:Department of Physiology and Pharmacology and Program in Chemical Biology, Oregon Health & Science University, Portland, Oregon 92739.
[Ti] Título:A Thyroid Hormone-Based Strategy for Correcting the Biochemical Abnormality in X-Linked Adrenoleukodystrophy.
[So] Source:Endocrinology;158(5):1328-1338, 2017 May 01.
[Is] ISSN:1945-7170
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:X-linked adrenoleukodystrophy (X-ALD) is a rare, genetic disorder characterized by adrenal insufficiency and central nervous system (CNS) demyelination. All patients with X-ALD have the biochemical abnormality of elevated blood and tissue levels of very long chain fatty acids (VLCFAs), saturated fatty acids with 24 to 26 carbons. X-ALD results from loss of function mutations in the gene encoding the peroxisomal transporter ABCD1, which is responsible for uptake of VLCFAs into peroxisomes for degradation by oxidation. One proposed therapeutic strategy for genetic complementation of ABCD1 is pharmacologic upregulation of ABCD2, a gene encoding a homologous peroxisomal transporter. Here, we show that thyroid hormone or sobetirome, a clinical-stage selective thyroid hormone receptor agonist, increases cerebral Abcd2 and lowers VLCFAs in blood, peripheral organs, and brains of mice with defective Abcd1. These results support an approach to treating X-ALD that involves a thyromimetic agent that reactivates VLCFA disposal both in the periphery and the CNS.
[Mh] Termos MeSH primário: Transportadores de Cassetes de Ligação de ATP/genética
Transportadores de Cassetes de Ligação de ATP/metabolismo
Acetatos/uso terapêutico
Adrenoleucodistrofia/tratamento farmacológico
Adrenoleucodistrofia/metabolismo
Encéfalo/metabolismo
Fenóis/uso terapêutico
Hormônios Tireóideos/uso terapêutico
[Mh] Termos MeSH secundário: Subfamília D de Transportador de Cassetes de Ligação de ATP
Membro 1 da Subfamília D de Transportadores de Cassetes de Ligação de ATP
Transportadores de Cassetes de Ligação de ATP/deficiência
Acetatos/administração & dosagem
Adrenoleucodistrofia/sangue
Adrenoleucodistrofia/genética
Animais
Transporte Biológico
Linhagem Celular
Ácidos Graxos/sangue
Ácidos Graxos/metabolismo
Fibroblastos
Seres Humanos
Masculino
Camundongos
Peroxissomos/metabolismo
Fenóis/administração & dosagem
Receptores dos Hormônios Tireóideos/agonistas
Hormônios Tireóideos/administração & dosagem
Hormônios Tireóideos/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ABCD2 protein, mouse); 0 (ATP Binding Cassette Transporter, Sub-Family D); 0 (ATP Binding Cassette Transporter, Sub-Family D, Member 1); 0 (Abcd1 protein, mouse); 0 (Acetates); 0 (Fatty Acids); 0 (GC 1 compound); 0 (Phenols); 0 (Receptors, Thyroid Hormone); 0 (Thyroid Hormones)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170216
[St] Status:MEDLINE
[do] DOI:10.1210/en.2016-1842


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[PMID]:27766264
[Au] Autor:Kawaguchi K; Morita M
[Ad] Endereço:Department of Biological Chemistry, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, 2630 Sugitani, Toyama 930-0194, Japan.
[Ti] Título:ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human Disease.
[So] Source:Biomed Res Int;2016:6786245, 2016.
[Is] ISSN:2314-6141
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:ATP-binding cassette (ABC) transporters are one of the largest families of membrane-bound proteins and transport a wide variety of substrates across both extra- and intracellular membranes. They play a critical role in maintaining cellular homeostasis. To date, four ABC transporters belonging to subfamily D have been identified. ABCD1-3 and ABCD4 are localized to peroxisomes and lysosomes, respectively. ABCD1 and ABCD2 are involved in the transport of long and very long chain fatty acids (VLCFA) or their CoA-derivatives into peroxisomes with different substrate specificities, while ABCD3 is involved in the transport of branched chain acyl-CoA into peroxisomes. On the other hand, ABCD4 is deduced to take part in the transport of vitamin B from lysosomes into the cytosol. It is well known that the dysfunction of ABCD1 results in X-linked adrenoleukodystrophy, a severe neurodegenerative disease. Recently, it is reported that ABCD3 and ABCD4 are responsible for hepatosplenomegaly and vitamin B deficiency, respectively. In this review, the targeting mechanism and physiological functions of the ABCD transporters are summarized along with the related disease.
[Mh] Termos MeSH primário: Transportadores de Cassetes de Ligação de ATP/metabolismo
[Mh] Termos MeSH secundário: Subfamília D de Transportador de Cassetes de Ligação de ATP
Membro 1 da Subfamília D de Transportadores de Cassetes de Ligação de ATP
Transportadores de Cassetes de Ligação de ATP/genética
Adrenoleucodistrofia/genética
Adrenoleucodistrofia/metabolismo
Adrenoleucodistrofia/patologia
Ácidos Graxos/metabolismo
Seres Humanos
Lisossomos/genética
Lisossomos/metabolismo
Peroxissomos/genética
Peroxissomos/metabolismo
Especificidade por Substrato
Deficiência de Vitamina B 12/genética
Deficiência de Vitamina B 12/metabolismo
Deficiência de Vitamina B 12/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (ABCD1 protein, human); 0 (ABCD2 protein, human); 0 (ABCD3 protein, human); 0 (ABCD4 protein, human); 0 (ATP Binding Cassette Transporter, Sub-Family D); 0 (ATP Binding Cassette Transporter, Sub-Family D, Member 1); 0 (Fatty Acids)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161022
[St] Status:MEDLINE


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[PMID]:27423567
[Au] Autor:Dunkl V; Rau I; Wunderlich G; Fink GR; Lehmann HC
[Ad] Endereço:Department of Neurology, University Hospital of Cologne, Germany. Electronic address: veronika.dunkl@uk-koeln.de.
[Ti] Título:Oligosymptomatic adrenomyeloneuropathy due to a novel mutation in the ABCD1 start codon.
[So] Source:J Neurol Sci;367:81-2, 2016 Aug 15.
[Is] ISSN:1878-5883
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Mh] Termos MeSH primário: Transportadores de Cassetes de Ligação de ATP/genética
Adrenoleucodistrofia/genética
Códon de Iniciação
Mutação
[Mh] Termos MeSH secundário: Membro 1 da Subfamília D de Transportadores de Cassetes de Ligação de ATP
Adrenoleucodistrofia/diagnóstico por imagem
Adrenoleucodistrofia/fisiopatologia
Adulto
Seres Humanos
Masculino
Paraparesia Espástica/diagnóstico por imagem
Paraparesia Espástica/genética
Paraparesia Espástica/fisiopatologia
[Pt] Tipo de publicação:CASE REPORTS; LETTER
[Nm] Nome de substância:
0 (ABCD1 protein, human); 0 (ATP Binding Cassette Transporter, Sub-Family D, Member 1); 0 (Codon, Initiator)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160718
[St] Status:MEDLINE


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[PMID]:27312864
[Au] Autor:Kemp S; Huffnagel IC; Linthorst GE; Wanders RJ; Engelen M
[Ad] Endereço:Department of Pediatrics, Academisch Medisch Centrum, University of Amsterdam Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
[Ti] Título:Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history.
[So] Source:Nat Rev Endocrinol;12(10):606-15, 2016 10.
[Is] ISSN:1759-5037
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:X-Linked adrenoleukodystrophy (ALD) is a peroxisomal metabolic disorder with a highly complex clinical presentation. ALD is caused by mutations in the ABCD1 gene, which leads to the accumulation of very long-chain fatty acids in plasma and tissues. Virtually all men with ALD develop adrenal insufficiency and myelopathy. Approximately 60% of men develop progressive cerebral white matter lesions (known as cerebral ALD). However, one cannot identify these individuals until the early changes are seen using brain imaging. Women with ALD also develop myelopathy, but generally at a later age than men and adrenal insufficiency or cerebral ALD are very rare. Owing to the multisystem symptomatology of the disease, patients can be assessed by the paediatrician, general practitioner, endocrinologist or a neurologist. This Review describes current knowledge on the clinical presentation, diagnosis and treatment of ALD, and highlights gaps in our knowledge of the natural history of the disease owing to an absence of large-scale prospective cohort studies. Such studies are necessary for the identification of new prognostic biomarkers to improve care for patients with ALD, which is particularly relevant now that newborn screening for ALD is being introduced.
[Mh] Termos MeSH primário: Transportadores de Cassetes de Ligação de ATP/metabolismo
Adrenoleucodistrofia/metabolismo
Ácidos Graxos/metabolismo
[Mh] Termos MeSH secundário: Membro 1 da Subfamília D de Transportadores de Cassetes de Ligação de ATP
Transportadores de Cassetes de Ligação de ATP/genética
Insuficiência Adrenal/metabolismo
Adrenoleucodistrofia/diagnóstico
Adrenoleucodistrofia/tratamento farmacológico
Adrenoleucodistrofia/genética
Encéfalo/diagnóstico por imagem
Progressão da Doença
Feminino
Glucocorticoides/uso terapêutico
Terapia de Reposição Hormonal
Seres Humanos
Leucoencefalopatias/diagnóstico por imagem
Leucoencefalopatias/metabolismo
Masculino
Doenças do Sistema Nervoso Periférico/metabolismo
Doenças da Medula Espinal/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (ABCD1 protein, human); 0 (ATP Binding Cassette Transporter, Sub-Family D, Member 1); 0 (Fatty Acids); 0 (Glucocorticoids)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:171124
[Lr] Data última revisão:
171124
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160618
[St] Status:MEDLINE
[do] DOI:10.1038/nrendo.2016.90


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[PMID]:27248780
[Au] Autor:Kallabi F; Ben Salah G; Ben Chehida A; Tabebi M; Felhi R; Ben Turkia H; Tebib N; Keskes L; Kamoun H
[Ad] Endereço:a Laboratory of Human Molecular Genetics, Faculty of Medicine of Sfax, Road Majida Boulila, 3029 Sfax, Tunisia.
[Ti] Título:A de-novo large deletion of 2.8 kb produced in the ABCD1 gene causing adrenoleukodystrophy disease.
[So] Source:Biochem Cell Biol;94(3):265-9, 2016 Jun.
[Is] ISSN:1208-6002
[Cp] País de publicação:Canada
[La] Idioma:eng
[Ab] Resumo:X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder caused by mutations in the ABCD1 gene, which encodes an ATP-binding cassette transporter protein, ALDP. The disease is characterized by increased concentrations of very long chain fatty acids (VLCFAs) in plasma, adrenal, testicular, and nerve tissues. For this study, our objective was to conduct clinical, molecular, and genetic studies of a Tunisian patient with X-ALD. The diagnosis was based on clinical indications, biochemical analyses, typical brain-scan patterns, and molecular biology; the molecular analyses were based on PCR, long-range PCR, and sequencing. The molecular analysis by long-range PCR and direct sequencing of the ABCD1 gene showed the presence of a de-novo 2794 bp deletion covering the whole of exon 2. Using bioinformatics tools, we demonstrate that the large deletion is located in a region rich with Alu sequences. Furthermore, we suggest that the AluJb sequence could be the cause of the large deletion of intron 1, exon 2, and intron 2, and the creation of a premature stop codon within exon 3. This report is the first report in which we demonstrate the breakpoints and the size of a large deletion in a Tunisian with X-ALD.
[Mh] Termos MeSH primário: Transportadores de Cassetes de Ligação de ATP/genética
Adrenoleucodistrofia/genética
[Mh] Termos MeSH secundário: Membro 1 da Subfamília D de Transportadores de Cassetes de Ligação de ATP
Adolescente
Adrenoleucodistrofia/etiologia
Códon de Terminação
Análise Mutacional de DNA
Feminino
Seres Humanos
Masculino
Linhagem
Deleção de Sequência
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ABCD1 protein, human); 0 (ATP Binding Cassette Transporter, Sub-Family D, Member 1); 0 (Codon, Terminator)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160602
[St] Status:MEDLINE
[do] DOI:10.1139/bcb-2015-0168



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