Publicação
Rab and Arf Proteins in Genetic Diseases
| Resumo: | Rab and ADP-ribosylation factor (Arf) family proteins are master regulators of membrane trafficking and are involved in all steps of vesicular transport. These families of small guanine-nucleotide-binding (G) proteins are well suited to regulate membrane trafficking processes since their nucleotide state determines their conformation and the capacity to bind to a multitude of effectors, which mediate their functions. In recent years, several inherited diseases have been associated with mutations in genes encoding proteins belonging to these two families or in proteins that regulate their GTP-binding cycle. The genetic diseases that are caused by defects in Rabs, Arfs or their regulatory proteins are heterogeneous and display diverse symptoms. However, these diseases mainly affect two types of subcellular compartments, namely lysosome-related organelles and cilia. Also, several of these diseases affect the nervous system. Thus, the study of these diseases represents an opportunity to understand their etiology and the molecular mechanisms involved, as well as to develop novel therapeutic strategies. |
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| Autores principais: | Seixas, Elsa |
| Outros Autores: | Barros, Mafalda; Seabra, Miguel; C Seabra, Miguel; Barral, Duarte; C. Barral, Duarte |
| Assunto: | AMPA RECEPTORS secretion CHYLOMICRON RETENTION DISEASE ciliopathies GRISCELLI-SYNDROME lysosome-related organelles small GTPases membrane trafficking RETINAL-PIGMENT EPITHELIUM BARDET-BIEDL-SYNDROME HERMANSKY-PUDLAK-SYNDROME WARBURG MICRO SYNDROME GTPASE-ACTIVATING PROTEIN LINKED MENTAL-RETARDATION NUCLEOTIDE EXCHANGE FACTOR ciliopathies lysosome-related organelles membrane trafficking secretion small GTPases |
| Ano: | 2013 |
| País: | Portugal |
| Tipo de documento: | artigo |
| Tipo de acesso: | acesso aberto |
| Instituição associada: | Universidade Nova de Lisboa |
| Idioma: | inglês |
| Origem: | Repositório Institucional da UNL |
| Resumo: | Rab and ADP-ribosylation factor (Arf) family proteins are master regulators of membrane trafficking and are involved in all steps of vesicular transport. These families of small guanine-nucleotide-binding (G) proteins are well suited to regulate membrane trafficking processes since their nucleotide state determines their conformation and the capacity to bind to a multitude of effectors, which mediate their functions. In recent years, several inherited diseases have been associated with mutations in genes encoding proteins belonging to these two families or in proteins that regulate their GTP-binding cycle. The genetic diseases that are caused by defects in Rabs, Arfs or their regulatory proteins are heterogeneous and display diverse symptoms. However, these diseases mainly affect two types of subcellular compartments, namely lysosome-related organelles and cilia. Also, several of these diseases affect the nervous system. Thus, the study of these diseases represents an opportunity to understand their etiology and the molecular mechanisms involved, as well as to develop novel therapeutic strategies. |
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