INPP5E

Disease Category: autosomal recessive

Known Clinical Trials: none

Part of Research Study: yes

Treatment Options: none

Targeted Strategies to Preserve Eye Health: none

Institution(s) Conducting Research: Radboud Univ Med Ctr

IN THE NEWS

ACADEMIC PAPERS | JOURNAL ARTICLES | PERSONAL STORIES

Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy

ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting

The Joubert Syndrome Protein INPP5E Controls Ciliogenesis by Regulating Phosphoinositides at the Apical Membrane

Johannes Birtel, Tobias Eisenberger, Martin Gliem, Philipp L. Müller, Philipp Herrmann,  Christian Betz, Diana Zahnleiter, Christine Neuhaus, Steffen Lenzner, Frank G. Holz,  Elisabeth Mangold, Hanno J. Bolz, and Peter Charbel Issa, Scientific Reports, Vol 8, Article No. 4824, 19 Mar 2018.

https://doi.org/10.1038/s41598-018-22096-0

Melissa C. Humbert, Katie Weihbrecht, Charles C. Searby, Yalan Li, Robert M. Pope, Val C. Sheffield, and Seongjin Seo, 109 (48) 19691-19696, 27 Nov 2012.

https://doi.org/10.1073/pnas.1210916109

Wenyan Xu, Miaomiao Jin, Ruikun Hu, Hong Wang, Fan Zhang, Shiaulou Yuan and Ying Cao,  Vol 28 (1), pgs. 118-129, January 2017.

https://doi.org/10.1681/ASN.2015080906

Per 2017 published research, another woman with a non-syndromic INPP5E gene mutation is  57 years-old patient. At the time of the study, she still had 20/20 vision, but increased light sensitivity and decreased visual acuity.

Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E

Kollu N. Rao,  Wei Zhang,  Linjing Li,  Manisha Anand,  and Hemant Khanna, Human Molecular Genetics, Vol 25, Issue 20, pgs. 4533 - 4545, 15 Oct 2016.

https://doi.org/10.1093/hmg/ddw281

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