Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 2 de 2
Filtrar
Mais filtros










Base de dados
Intervalo de ano de publicação
1.
Neurobiol Aging ; 103: 130.e1-130.e7, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33637330

RESUMO

We report a case of childhood-onset ALS with a FUS gene mutation presenting cognitive impairment and a rapid clinical progression. The patient, an 11-year-old girl, presented with right distal upper limb weakness and mild intellectual disability at the Griffith Mental Development Scales. The disease rapidly worsened and the patient became tetraplegic and bed-ridden 2 years after symptom onset. A c.1509_1510delAG mutation in exon 14 of the FUS gene was detected, resulting in a predicted truncated protein, p.G504Wfs*12, lacking the nuclear localization signal. The levels of FUS mRNA in the proband were not significantly different compared to controls. Western immunoblot analysis showed that one antibody (500-526) detected in the proband ~50% of the amount of FUS protein compared to controls, while 3 other antibodies (2-27, 400-450 and FUS C-terminal), which recognize both wild type and the mutated FUS, detected 60% to 75% of the amount of the protein. These findings indicate that p.G504Wfs*12 FUS is more prone to undergo post-translational modification respect to wild type FUS.


Assuntos
Esclerose Lateral Amiotrófica/genética , Disfunção Cognitiva/genética , Éxons/genética , Estudos de Associação Genética , Heterozigoto , Perda de Heterozigosidade/genética , Mutação/genética , Proteína FUS de Ligação a RNA/genética , Esclerose Lateral Amiotrófica/complicações , Criança , Disfunção Cognitiva/complicações , Progressão da Doença , Feminino , Expressão Gênica/genética , Humanos , RNA Mensageiro , Proteína FUS de Ligação a RNA/metabolismo
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...