# Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/individuals-with-mutations-in-xpnpep3-which-encodes-a-mitochondrial-protein/

## Facts

| Field | Value |
| --- | --- |
| Author Names | John F. O’Toole,Yangjian Liu,Erica E. Davis,Christopher J. Westlake,Massimo Attanasio,Edgar A. Otto,Dominik Seelow,Gudrun Nürnberg,Christian Becker,Matti Nuutinen,Mikko Kärppä,Jaakko Ignatius,Johanna Uusimaa,Salla Pakanen,E. Jaakkola,Lambertus P. van den Heuvel,Henry Fehrenbach,Roger C. Wiggins,Meera Goyal,Weibin Zhou,Matthias T. F. Wolf,Eric L. Wise,Juliana Helou,Susan J. Allen,Carlos Murga‐Zamalloa,Shazia Ashraf,Moumita Chaki,Saskia F. Heeringa,Gil Chernin,Bethan E. Hoskins,Hassan Chaı̈b,Joseph G. Gleeson,Takehiro Kusakabe,Takako Suzuki,R. Elwyn Isaac,Lynne M. Quarmby,Bryan Tennant,Hisashi Fujioka,Hannu Tuominen,Ilmo E. Hassinen,Hellevi Lohi,Judith L. Van Houten,Agnès Rötig,John A. Sayer,Boris Rolinski,Peter Freisinger,Sethu M. Madhavan,Martina Herzer,Florence Madignier,Holger Prokisch,Peter Nürnberg,Peter K. Jackson,Hemant Khanna,Nicholas Katsanis,Friedhelm Hildebrandt |
| Citations | 119 |
| DOI | 10.1172/jci40076 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | green |
| OA URL | https://www.ncbi.nlm.nih.gov/pmc/articles/2827951 |
| OpenAlex ID | https://openalex.org/W2111745892 |
| PMID | 20179356 |
| Type | article |
| Year | 2010 |

## Paper authors

- [Gil Chernin](https://scholariq.org/researchers/gil-chernin/)

## 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/)
- [Renal Diseases and Glomerulopathies](https://scholariq.org/topics/renal-diseases-and-glomerulopathies/)

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