Skeletal ciliopathy: pathogenesis and related signaling pathways.
Mol Cell Biochem
; 479(4): 811-823, 2024 Apr.
Article
en En
| MEDLINE
| ID: mdl-37188988
ABSTRACT
Cilia are tiny organelles with conserved structures and components in eukaryotic cells. Ciliopathy is a set of diseases resulting from cilium dysfunction classified into first-order and second-order ciliopathy. With the advancement of clinical diagnosis and radiography, numerous skeletal phenotypes, including polydactyly, short limbs, short ribs, scoliosis, a narrow thorax, and numerous anomalies in bone and cartilage, have been discovered in ciliopathies. Mutation in genes encoding cilia core components or other cilia-related molecules have been found in skeletal ciliopathies. Meanwhile, various signaling pathways associated with cilia and skeleton development have been deemed to be significant for the occurrence and progression of diseases. Herein, we review the structure and key components of the cilium and summarize several skeletal ciliopathies with their presumable pathology. We also emphasize the signaling pathways involved in skeletal ciliopathies, which may assist in developing potential therapies for these diseases.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Ciliopatías
Tipo de estudio:
Etiology_studies
Límite:
Humans
Idioma:
En
Revista:
Mol Cell Biochem
Año:
2024
Tipo del documento:
Article
País de afiliación:
China