Cilia in hereditary cerebral anomalies.
Agenesis of Corpus Callosum
/ embryology
Animals
Cerebellum
/ abnormalities
Cilia
/ pathology
Ciliopathies
/ embryology
Developmental Disabilities
Hedgehog Proteins
/ metabolism
Humans
Hydrocephalus
/ embryology
Mice
Nervous System Malformations
/ embryology
Neural Tube Defects
/ embryology
Signal Transduction
Brain/nervous system
Cell cycle
Centriole
Development
Microtubule
Journal
Biology of the cell
ISSN: 1768-322X
Titre abrégé: Biol Cell
Pays: England
ID NLM: 8108529
Informations de publication
Date de publication:
Sep 2019
Sep 2019
Historique:
received:
26
02
2019
revised:
30
05
2019
accepted:
01
06
2019
pubmed:
10
6
2019
medline:
31
12
2019
entrez:
10
6
2019
Statut:
ppublish
Résumé
Ciliopathies are complex genetic multi-system disorders causally related to abnormal assembly or function of motile or non-motile cilia. While most human cells possess a non-motile sensory/primary cilium (PC) during development and/or in adult tissues, motile cilia are restricted to specialised cells. As a result, PC-associated ciliopathies are characterised by high phenotypic variability with extensive clinical and genetic overlaps. In the present review, we have focused on cerebral developmental anomalies, which are commonly found in PC-associated ciliopathies and which have mostly been linked to Hedgehog signalling defects. In addition, we have reviewed emerging evidence that PC dysfunctions could be directly or indirectly involved in the mechanisms underlying malformations of cerebral cortical development including primary microcephaly.
Identifiants
pubmed: 31177551
doi: 10.1111/boc.201900012
doi:
Substances chimiques
Hedgehog Proteins
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
217-231Subventions
Organisme : Fondation Bettencourt Schueller
Organisme : Fondation pour la Recherche Médicale
ID : DEQ20130326532
Organisme : Agence Nationale de la Recherche
ID : ANR-10-IAHU-01
Organisme : Agence Nationale de la Recherche
ID : ANR-13-BSV1-0027
Organisme : Agence Nationale de la Recherche
ID : ANR-17-CE16-0003-01
Organisme : Agence Nationale de la Recherche
ID : ANR-17-RHUS-0002
Organisme : Agence Nationale de la Recherche
ID : ANR-A0-IAHU-01
Organisme : GIS-Institut des Maladies Rares
ID : AMA11025KSA
Informations de copyright
© 2019 Société Française des Microscopies and Société de Biologie Cellulaire de France. Published by John Wiley & Sons Ltd.
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