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	Provedor de dados BJMBR (1) Genet. Mol. Biol. (1) Autor Abou-Sleiman,P.M. (1) Barreira,A.A. (1) Davis,M.B. (1) Marques Jr.,W. (1) Marques,V.D. (1) Mohseni,Jafar (1) Sasongko,Teguh Haryo (1) Silva Jr.,W.A. (1) Sobreira,C.S. (1) Zabidi-Hussin,Z.A.M.H. (1) Zago,M.A. (1) Mais... Palavra-chave Spinal muscular atrophy (2) Autonomic neuropathies (1) HDACi (1) Hereditary motor neuronopathies (1) Molecular therapy (1) Tipo do documento Info:eu-repo/semantics/article (2) Ano 2013 (1) 2004 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Hereditary motor and autonomic neuronopathy 1 maps to chromosome 20q13.2-13.3 BJMBR Marques Jr.,W.; Davis,M.B.; Abou-Sleiman,P.M.; Marques,V.D.; Silva Jr.,W.A.; Zago,M.A.; Sobreira,C.S.; Barreira,A.A.. The spinal muscular atrophies (SMA) or hereditary motor neuronopathies result from the continuous degeneration and death of spinal cord lower motor neurons, leading to progressive muscular weakness and atrophy. We describe a large Brazilian family exhibiting an extremely rare, late-onset, dominant, proximal, and progressive SMA accompanied by very unusual manifestations, such as an abnormal sweating pattern, and gastrointestinal and sexual dysfunctions, suggesting concomitant involvement of the autonomic nervous system. We propose a new disease category for this disorder, `hereditary motor and autonomic neuronopathy', and attribute the term, `survival of motor and autonomic neurons 1' (SMAN1) to the respective locus that was mapped to a 14.5 cM region on... Tipo: Info:eu-repo/semantics/article Palavras-chave: Spinal muscular atrophy; Hereditary motor neuronopathies; Autonomic neuropathies. Ano: 2004 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2004001100022 Histone deacetylase inhibitors as potential treatment for spinal muscular atrophy Genet. Mol. Biol. Mohseni,Jafar; Zabidi-Hussin,Z.A.M.H.; Sasongko,Teguh Haryo. Histone acetylation plays an important role in regulation of transcription in eukaryotic cells by promoting a more relaxed chromatin structure necessary for transcriptional activation. Histone deacetylases (HDACs) remove acetyl groups and suppress gene expression. HDAC inhibitors (HDACIs) are a group of small molecules that promote gene transcription by chromatin remodeling and have been extensively studied as potential drugs for treating of spinal muscular atrophy. Various drugs in this class have been studied with regard to their efficacy in increasing the expression of survival of motor neuron (SMN) protein. In this review, we discuss the current literature on this topic and summarize the findings of the main studies in this field. Tipo: Info:eu-repo/semantics/article Palavras-chave: HDACi; Molecular therapy; Spinal muscular atrophy. Ano: 2013 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000300001 Registros recuperados: 2 Primeira ... 1 ... Última

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