Endocytic Adaptor Proteins in Health and Disease: Lessons from Model Organisms and Human Mutations.
Cells
; 8(11)2019 10 29.
Article
em En
| MEDLINE
| ID: mdl-31671891
ABSTRACT
Cells need to exchange material and information with their environment. This is largely achieved via cell-surface receptors which mediate processes ranging from nutrient uptake to signaling responses. Consequently, their surface levels have to be dynamically controlled. Endocytosis constitutes a powerful mechanism to regulate the surface proteome and to recycle vesicular transmembrane proteins that strand at the plasma membrane after exocytosis. For efficient internalization, the cargo proteins need to be linked to the endocytic machinery via adaptor proteins such as the heterotetrameric endocytic adaptor complex AP-2 and a variety of mostly monomeric endocytic adaptors. In line with the importance of endocytosis for nutrient uptake, cell signaling and neurotransmission, animal models and human mutations have revealed that defects in these adaptors are associated with several diseases ranging from metabolic disorders to encephalopathies. This review will discuss the physiological functions of the so far known adaptor proteins and will provide a comprehensive overview of their links to human diseases.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Saúde
/
Doença
/
Proteínas Adaptadoras de Transdução de Sinal
/
Endocitose
/
Proteínas de Membrana
/
Mutação
Tipo de estudo:
Etiology_studies
Limite:
Animals
/
Humans
Idioma:
En
Revista:
Cells
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Alemanha