2016
DOI: 10.1016/j.ydbio.2016.01.004
|View full text |Cite
|
Sign up to set email alerts
|

Identifying domains of EFHC1 involved in ciliary localization, ciliogenesis, and the regulation of Wnt signaling

Abstract: EFHC1 encodes a ciliary protein that has been linked to Juvenile Myoclonic Epilepsy. In ectodermal explants, derived from Xenopus laevis embryos, the morpholino-mediated down-regulation of EFHC1b inhibited multiciliated cell formation. In those ciliated cells that did form, axoneme but not basal body formation was inhibited. EFHC1b morphant embryos displayed defects in central nervous system (CNS) and neural crest patterning that were rescued by a EFHC1b-GFP chimera. EFHC1b-GFP localized to ciliary axonemes in… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
2
1
1
1

Citation Types

0
17
0

Year Published

2017
2017
2022
2022

Publication Types

Select...
7
1

Relationship

1
7

Authors

Journals

citations
Cited by 16 publications
(17 citation statements)
references
References 53 publications
(75 reference statements)
0
17
0
Order By: Relevance
“…Therefore, structural modeling of EFHC1 mutants is a useful step in understanding the importance of structure–function relationships in DM10 domains. Interestingly, recent functional evidence suggests that DM10 domains of EFHC1 are involved in ciliogenesis and regulate aspects of Wnt signaling during development in Xenopus leavis (Zhao, Shi, Winey, & Klymkowsky, ).…”
Section: Discussionmentioning
confidence: 99%
“…Therefore, structural modeling of EFHC1 mutants is a useful step in understanding the importance of structure–function relationships in DM10 domains. Interestingly, recent functional evidence suggests that DM10 domains of EFHC1 are involved in ciliogenesis and regulate aspects of Wnt signaling during development in Xenopus leavis (Zhao, Shi, Winey, & Klymkowsky, ).…”
Section: Discussionmentioning
confidence: 99%
“…Numerous studies in Xenopus elucidate mechanisms of morphogenesis and organogenesis ( Agricola et al, ; Bestman, Huang, Lee‐Osbourne, Cheung, & Cline, ; Metikala, Neuhaus, & Hollemann, ; Mimoto, Kwon, Green, Goldman, & Christian, ; Nie & Bronner, ; Okada, Wen, Miller, Su, & Shi, ; Ossipova et al, ; Tanizaki, Ishida‐Iwata, Obuchi‐Shimoji, & Kato, ). Many of the components of the well‐known signaling pathways were discovered in Xenopus and fly, and new discoveries in this field continue to rely on Xenopus (e.g., Lee et al, ; Lee, Shi, & Zheng, ; Park et al, ; Zhang et al, ; Zhao, Shi, Winey, & Klymkowsky, ). Nuclear reprogramming and stem cell research began in amphibians, particularly frog (Gurdon, ), and Xenopus continues to be used for seminal discoveries (e.g., Ali et al, ; Buitrago‐Delgado, Nordin, Rao, Geary, & LaBonne, ; Jullien et al, ; Kole, Ambady, Page, & Dominko, ; Kurmann et al, ; Maza & Hanna, ; Paranjpe & Veenstra, ).…”
Section: Xenopus Provides Fundamental Knowledge About Biological Procmentioning
confidence: 99%
“…Mutations in the human RIB72 homolog, hsEFHC1, cause juvenile myoclonic epilepsy (Suzuki et al, 2004). A common feature of RIB72 homologs are three DM10 domains that are important for ciliary localization (Zhao et al, 2016) and in many cases a Cterminal, Ca 2+ -binding EF-hand motif (Zhao, 2015) (Fig. 1C).…”
Section: Introductionmentioning
confidence: 99%