# The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/the-centrosomal-protein-nephrocystin-6-is-mutated-in-joubert-syndrome-and/

## Facts

| Field | Value |
| --- | --- |
| Author Names | John A. Sayer,Edgar A. Otto,John F. O’Toole,Gudrun Nürnberg,Michael A. Kennedy,Christian Becker,Hans Christian Hennies,Juliana Helou,Massimo Attanasio,Blake V. Fausett,Boris Utsch,Hemant Khanna,Yan Liu,Iain A. Drummond,I. Kawakami,Takehiro Kusakabe,Motoyuki Tsuda,Li Ma,Hwankyu Lee,Ronald G. Larson,Susan J. Allen,Christopher J. Wilkinson,Erich A. Nigg,Chengchao Shou,Concepción Lillo,David S. Williams,Bernd Höppe,Markus J. Kemper,Thomas J. Neuhaus,Melissa A. Parisi,Ian A. Glass,Marianne Petry,Andreas Kispert,Joachim Gloy,Athina Ganner,Gerd Walz,Xueliang Zhu,Daniel Goldman,Peter Nürnberg,Anand Swaroop,Michel R. Leroux,Friedhelm Hildebrandt |
| Citations | 578 |
| DOI | 10.1038/ng1786 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | false |
| OA Status | closed |
| OpenAlex ID | https://openalex.org/W2110283302 |
| PMID | 16682973 |
| Type | article |
| Year | 2006 |

## Paper authors

- [John A. Sayer](https://scholariq.org/researchers/john-a-sayer/)
- [Gerd Walz](https://scholariq.org/researchers/gerd-walz/)

## Paper primary topic

- [Genetic and Kidney Cyst Diseases](https://scholariq.org/topics/genetic-and-kidney-cyst-diseases/)

## Paper topics

- [Genetic and Kidney Cyst Diseases](https://scholariq.org/topics/genetic-and-kidney-cyst-diseases/)
- [Renal and related cancers](https://scholariq.org/topics/renal-and-related-cancers/)
- [Protist diversity and phylogeny](https://scholariq.org/topics/protist-diversity-and-phylogeny/)

---
Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.