Jagged-mediated development and disease: Mechanistic insights and therapeutic implications for Alagille syndrome.
Curr Opin Cell Biol
; 86: 102302, 2024 02.
Article
em En
| MEDLINE
| ID: mdl-38194749
ABSTRACT
Notch signaling controls multiple aspects of embryonic development and adult homeostasis. Alagille syndrome is usually caused by a single mutation in the jagged canonical Notch ligand 1 (JAG1), and manifests with liver disease and cardiovascular symptoms that are a direct consequence of JAG1 haploinsufficiency. Recent insights into Jag1/Notch-controlled developmental and homeostatic processes explain how pathology develops in the hepatic and cardiovascular systems and, together with recent elucidation of mechanisms modulating liver regeneration, provide a basis for therapeutic efforts. Importantly, disease presentation can be regulated by genetic modifiers, that may also be therapeutically leverageable. Here, we summarize recent insights into how Jag1 controls processes of relevance to Alagille syndrome, focused on Jag1/Notch functions in hepatic and cardiovascular development and homeostasis.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Alagille
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
En
Revista:
Curr Opin Cell Biol
Ano de publicação:
2024
Tipo de documento:
Article