Associated Papers
The power of five - inositol polyphosphate 5-phosphatase gene mutations at the intersection of development and disease.
McGrath MJ et al.
Febs Letters, 2025
Regulation of INPP5E in Ciliogenesis, Development, and Disease.
Hakeem A et al.
International Journal of Biological Sciences, 2025
Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa.
Whiting KR et al.
European Journal of Human Genetics : Ejhg, 2024
Potential Involvements of Cilia-Centrosomal Genes in Primary Congenital Glaucoma.
Pyatla G et al.
International Journal of Molecular Sciences, 2024
39337513 (PubMed )
Supplement: ijms-25-10028-s001.zip › Copy_of_Revised_Table_S4_INPP5E_reported_phenotypes.xlsx › Sheet1
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.
Sangermano R et al.
Npj Genomic Medicine, 2021
Autophagosome-lysosome fusion in neurons requires INPP5E, a protein associated with Joubert syndrome.
Hasegawa J et al.
The Embo Journal, 2016
Mutation spectrum of Joubert syndrome and related disorders among Arabs.
Ben-Salem S et al.
Human Genome Variation, 2014
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L et al.
European Journal of Human Genetics : Ejhg, 2013
Inositol polyphosphate 5-phosphatases; new players in the regulation of cilia and ciliopathies.
Conduit SE et al.
Febs Letters, 2012
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
Bielas SL et al.
Nature Genetics, 2009
Select a paper to view details