Reactome | A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium

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A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium Show undefined attributes

author	[Person:5624770] Thomas, S [Person:5623266] Wright, KJ [Person:5624694] Le Corre, S [Person:5624717] Micalizzi, A [Person:5624744] Romani, M [Person:5602669] Abhyankar, A [Person:5624748] Saada, J [Person:2471643] Perrault, I [Person:5624580] Amiel, J [Person:5624699] Litzler, J [Person:5617698] Filhol, E [Person:5624631] Elkhartoufi, N [Person:5623898] Kwong, M [Person:1679000] Casanova, JL [Person:5624601] Boddaert, N [Person:5624590] Baehr, W [Person:5624703] Lyonnet, S [Person:2038337] Munnich, A [Person:5624607] Burglen, L [Person:2453888] Chassaing, N [Person:5624634] Encha-Ravazi, F [Person:5624786] Vekemans, M [Person:3621805] Gleeson, JG [Person:5624781] Valente, EM [Person:5609712] Jackson, PK [Person:5624630] Drummond, IA [Person:5624751] Saunier, S [Person:2453883] Atti�-Bitach, T
created	[InstanceEdit:5624800] Rothfels, Karen, 2014-09-30
dbId	5624799
displayName	A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium
journal	Hum. Mutat.
pages	137-46
pubMedIdentifier	24166846
schemaClass	LiteratureReference
title	A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium
url	http://www.ncbi.nlm.nih.gov/pubmed/24166846
volume	35
year	2014

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[Pathway:R-HSA-5624958] ARL13B-mediated ciliary trafficking of INPP5E

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