A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity

ARL13B encodes for the ADP-ribosylation factor-like 13B GTPase, which is required for normal cilia structure and Sonic hedgehog (Shh) signaling. Disruptions in cilia structure or function lead to a class of human disorders called ciliopathies. Joubert syndrome is characterized by a wide spectrum of...

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Bibliografiska uppgifter
I publikationen:Eur J Hum Genet
Huvudupphovsmän: Rafiullah, Rafiullah, Long, Alyssa B., Ivanova, Anna A., Ali, Hazrat, Berkel, Simone, Mustafa, Ghulam, Paramasivam, Nagarajan, Schlesner, Matthias, Wiemann, Stefan, Wade, Rebecca C., Bolthauser, Eugen, Blum, Martin, Kahn, Richard A., Caspary, Tamara, Rappold, Gudrun A.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Springer International Publishing 2017
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5865152/
https://ncbi.nlm.nih.gov/pubmed/29255182
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-017-0031-0
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