Small GTPases in hedgehog signalling: emerging insights into the disease mechanisms of Rab23-mediated and Arl13b-mediated ciliopathies
| Autor: | Catherine Hong Huan Hor, Eyleen Lk Goh |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
GTPase
Biology Ciliopathies Joubert syndrome 03 medical and health sciences 0302 clinical medicine Genetics medicine Humans Genetic Predisposition to Disease Hedgehog Proteins Cilia Monomeric GTP-Binding Proteins 030304 developmental biology 0303 health sciences ADP-Ribosylation Factors Cilium Disease mechanisms medicine.disease Carpenter syndrome Hedgehog signalling Signalling rab GTP-Binding Proteins Multigene Family Neuroscience 030217 neurology & neurosurgery Signal Transduction Developmental Biology |
| Zdroj: | Current Opinion in Genetics & Development. 56:61-68 |
| ISSN: | 0959-437X |
| Popis: | Small GTPases are known to have pivotal roles in intracellular trafficking, and several members of the small GTPases superfamily such as Rab10 [1,2•], Rab11 [3-5], Rab34 [6•,7], Rab8 [3,8], Rab23 [9-12], RSG1 [13-15], Arl13b [16-22], and Arl6 [22,23] were recently reported to mediate primary cilia function and/or Hh signalling. Although these functions are implicated in diseases such as ciliopathies, the molecular basis underlying how these small GTPases mediate primary cilia-dependent Hh signalling and pathogenesis of ciliopathies warrants further investigations. Notably, Rab23 and Arl13b have been implicated in ciliopathy-associated human diseases and could regulate Hh signalling cascade in multifaceted manners. This review thus specifically discuss the roles of Rab23 and Arl13b in primary cilia of mammalian systems, their cilia-dependent and cilia-independent modulation of hedgehog signalling pathways and their implications in Carpenter Syndrome and Joubert Syndrome respectively. |
| Databáze: | OpenAIRE |
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