Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy (Journal of Clinical Investigation (2010) 120, 3 (791-802) DOI: 10.1172/JCI40076)

John F. O'Toole, Yangjian Liu, Erica E. Davis, Christopher J. Westlake, Massimo Attanasio, Edgar A. Otto, Dominik Seelow, Gudrun Nurnberg, Christian Becker, Matti Nuutinen, Mikko Kärppä, Jaakko Ignatius, Johanna Uusimaa, Salla Pakanen, Elisa Jaakkola, Lambertus P. Van Den Heuvel, Henry Fehrenbach, Roger Wiggins, Weibin Zhou, Matthias T F WolfEric Wise, Juliana Helou, Susan J. Allen, Carlos A. Murga-Zamalloa, Shazia Ashraf, Moumita Chaki, Saskia Heeringa, Gil Chernin, Bethan E. Hoskins, Hassan Chaib, Joseph Gleeson, Takehiro Kusakabe, Takako Suzuki, R. Elwyn Isaac, Lynne M. Quarmby, Bryan Tennant, Hisashi Fujioka, Hannu Tuominen, Ilmo Hassinen, Hellevi Lohi, Judith L. Van Houten, Agnes Rotig, John A. Sayer, Boris Rolinski, Peter Freisinger, Sethu M. Madhavan, Martina Herzer, Florence Madignier, Holger Prokisch, Peter Nurnberg, Peter K. Jackson, Hemant Khanna, Nicholas Katsanis, Friedhelm Hildebrandt

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1 Citation (Scopus)
Original languageEnglish (US)
Pages (from-to)1362
Number of pages1
JournalJournal of Clinical Investigation
Volume120
Issue number4
DOIs
StatePublished - Apr 1 2010

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Mitochondrial Proteins
Mutation

ASJC Scopus subject areas

  • Medicine(all)

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Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy (Journal of Clinical Investigation (2010) 120, 3 (791-802) DOI : 10.1172/JCI40076). / O'Toole, John F.; Liu, Yangjian; Davis, Erica E.; Westlake, Christopher J.; Attanasio, Massimo; Otto, Edgar A.; Seelow, Dominik; Nurnberg, Gudrun; Becker, Christian; Nuutinen, Matti; Kärppä, Mikko; Ignatius, Jaakko; Uusimaa, Johanna; Pakanen, Salla; Jaakkola, Elisa; Van Den Heuvel, Lambertus P.; Fehrenbach, Henry; Wiggins, Roger; Zhou, Weibin; Wolf, Matthias T F; Wise, Eric; Helou, Juliana; Allen, Susan J.; Murga-Zamalloa, Carlos A.; Ashraf, Shazia; Chaki, Moumita; Heeringa, Saskia; Chernin, Gil; Hoskins, Bethan E.; Chaib, Hassan; Gleeson, Joseph; Kusakabe, Takehiro; Suzuki, Takako; Isaac, R. Elwyn; Quarmby, Lynne M.; Tennant, Bryan; Fujioka, Hisashi; Tuominen, Hannu; Hassinen, Ilmo; Lohi, Hellevi; Van Houten, Judith L.; Rotig, Agnes; Sayer, John A.; Rolinski, Boris; Freisinger, Peter; Madhavan, Sethu M.; Herzer, Martina; Madignier, Florence; Prokisch, Holger; Nurnberg, Peter; Jackson, Peter K.; Khanna, Hemant; Katsanis, Nicholas; Hildebrandt, Friedhelm.

In: Journal of Clinical Investigation, Vol. 120, No. 4, 01.04.2010, p. 1362.

Research output: Contribution to journalArticle

O'Toole, JF, Liu, Y, Davis, EE, Westlake, CJ, Attanasio, M, Otto, EA, Seelow, D, Nurnberg, G, Becker, C, Nuutinen, M, Kärppä, M, Ignatius, J, Uusimaa, J, Pakanen, S, Jaakkola, E, Van Den Heuvel, LP, Fehrenbach, H, Wiggins, R, Zhou, W, Wolf, MTF, Wise, E, Helou, J, Allen, SJ, Murga-Zamalloa, CA, Ashraf, S, Chaki, M, Heeringa, S, Chernin, G, Hoskins, BE, Chaib, H, Gleeson, J, Kusakabe, T, Suzuki, T, Isaac, RE, Quarmby, LM, Tennant, B, Fujioka, H, Tuominen, H, Hassinen, I, Lohi, H, Van Houten, JL, Rotig, A, Sayer, JA, Rolinski, B, Freisinger, P, Madhavan, SM, Herzer, M, Madignier, F, Prokisch, H, Nurnberg, P, Jackson, PK, Khanna, H, Katsanis, N & Hildebrandt, F 2010, 'Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy (Journal of Clinical Investigation (2010) 120, 3 (791-802) DOI: 10.1172/JCI40076)', Journal of Clinical Investigation, vol. 120, no. 4, pp. 1362. https://doi.org/10.1172/JCI40076C1
O'Toole, John F. ; Liu, Yangjian ; Davis, Erica E. ; Westlake, Christopher J. ; Attanasio, Massimo ; Otto, Edgar A. ; Seelow, Dominik ; Nurnberg, Gudrun ; Becker, Christian ; Nuutinen, Matti ; Kärppä, Mikko ; Ignatius, Jaakko ; Uusimaa, Johanna ; Pakanen, Salla ; Jaakkola, Elisa ; Van Den Heuvel, Lambertus P. ; Fehrenbach, Henry ; Wiggins, Roger ; Zhou, Weibin ; Wolf, Matthias T F ; Wise, Eric ; Helou, Juliana ; Allen, Susan J. ; Murga-Zamalloa, Carlos A. ; Ashraf, Shazia ; Chaki, Moumita ; Heeringa, Saskia ; Chernin, Gil ; Hoskins, Bethan E. ; Chaib, Hassan ; Gleeson, Joseph ; Kusakabe, Takehiro ; Suzuki, Takako ; Isaac, R. Elwyn ; Quarmby, Lynne M. ; Tennant, Bryan ; Fujioka, Hisashi ; Tuominen, Hannu ; Hassinen, Ilmo ; Lohi, Hellevi ; Van Houten, Judith L. ; Rotig, Agnes ; Sayer, John A. ; Rolinski, Boris ; Freisinger, Peter ; Madhavan, Sethu M. ; Herzer, Martina ; Madignier, Florence ; Prokisch, Holger ; Nurnberg, Peter ; Jackson, Peter K. ; Khanna, Hemant ; Katsanis, Nicholas ; Hildebrandt, Friedhelm. / Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy (Journal of Clinical Investigation (2010) 120, 3 (791-802) DOI : 10.1172/JCI40076). In: Journal of Clinical Investigation. 2010 ; Vol. 120, No. 4. pp. 1362.
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