Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 1 de 1
Filtrar
Mais filtros










Base de dados
Intervalo de ano de publicação
1.
J Mol Neurosci ; 50(2): 280-3, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23576097

RESUMO

Familial idiopathic basal ganglia calcification (FIBGC), also known as "Fahr's disease," is a neuropsychiatric disorder with motor and cognitive symptoms. It is characterized pathologically by bilateral calcification most commonly in the basal ganglia and also in other brain regions such as the thalamus and cerebellum. A recent report by Wang et al. (2012) discovered multiple families with FIBGC carrying mutations in the SLC20A2 gene, encoding the inorganic phosphate transporter PiT-2, which segregated in an autosomal dominant pattern. To understand further the role of SLC20A2 in FIBGC brain pathology, here we described the gene expression pattern across the whole brain for SLC20A2, using the Allen Institute Human Brain Atlas database. Microarray analysis provided evidence that the neuroanatomical pattern of expression for SLC20A2 is highest in the regions most commonly affected in FIBGC. Neuroanatomical regions that demonstrated high correlation or anti-correlation with SLC20A2 expression also showed a molecular network with potential to explain the limited neuroanatomical distribution of calcifications in IBGC. Lastly, these co-expression networks suggest additional further candidate genes for FIBGC.


Assuntos
Doenças dos Gânglios da Base/genética , Calcinose/genética , Redes Reguladoras de Genes , Doenças Neurodegenerativas/genética , Proteínas Cotransportadoras de Sódio-Fosfato Tipo III/genética , Transcrição Gênica , Adulto , Doenças dos Gânglios da Base/metabolismo , Doenças dos Gânglios da Base/patologia , Encéfalo/metabolismo , Calcinose/metabolismo , Calcinose/patologia , Humanos , Masculino , Doenças Neurodegenerativas/metabolismo , Doenças Neurodegenerativas/patologia , Proteínas Cotransportadoras de Sódio-Fosfato Tipo III/metabolismo
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...