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

John A Sayer; Edgar A Otto; John F O'Toole; Gudrun Nurnberg; Michael A Kennedy; Christian Becker; Hans Christian Hennies; Juliana Helou; Massimo Attanasio; Blake V Fausett; Boris Utsch; Hemant Khanna; Yan Liu; Iain Drummond; Isao Kawakami; Takehiro Kusakabe; Motoyuki Tsuda; Li Ma; Hwankyu Lee; Ronald G Larson; Susan J Allen; Christopher J Wilkinson; Erich A Nigg; Chengchao Shou; Concepcion Lillo; David S Williams; Bernd Hoppe; Markus J Kemper; Thomas Neuhaus; Melissa A Parisi; Ian A Glass; Marianne Petry; Andreas Kispert; Joachim Gloy; Athina Ganner; Gerd Walz; Xueliang Zhu; Daniel Goldman; Peter Nurnberg; Anand Swaroop; Michel R Leroux; Friedhelm Hildebrandt

doi:10.1038/ng1786

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

John A Sayer
, Edgar A Otto
, John F O'Toole
, Gudrun Nurnberg
, Michael A Kennedy
, Christian Becker
, Hans Christian Hennies
, Juliana Helou
, Massimo Attanasio
, Blake V Fausett
, Boris Utsch
, Hemant Khanna
, Yan Liu
, Iain Drummond
, Isao Kawakami
, Takehiro Kusakabe
, Motoyuki Tsuda
, Li Ma
, Hwankyu Lee
, Ronald G Larson

Susan J Allen, Christopher J Wilkinson, Erich A Nigg, Chengchao Shou, Concepcion Lillo, David S Williams, Bernd Hoppe, Markus J Kemper, Thomas Neuhaus, Melissa A Parisi, Ian A Glass, Marianne Petry, Andreas Kispert, Joachim Gloy, Athina Ganner, Gerd Walz, Xueliang Zhu, Daniel Goldman, Peter Nurnberg, Anand Swaroop, Michel R Leroux, Friedhelm Hildebrandt

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	674-81
Number of pages	8
Journal	Nature Genetics
Volume	38
Issue number	6
DOIs	https://doi.org/10.1038/ng1786
Publication status	Published - 2006

Keywords

Activating Transcription Factor 4
Animals
Antigens, Neoplasm
Female
Genetic Linkage
Humans
In Situ Hybridization
Male
Mutation
Neoplasm Proteins
Pedigree
Syndrome
Zebrafish

Access to Document

10.1038/ng1786

Cite this

Sayer, J. A., Otto, E. A., O'Toole, J. F., Nurnberg, G., Kennedy, M. A., Becker, C., Hennies, H. C., Helou, J., Attanasio, M., Fausett, B. V., Utsch, B., Khanna, H., Liu, Y., Drummond, I., Kawakami, I., Kusakabe, T., Tsuda, M., Ma, L., Lee, H., ... Hildebrandt, F. (2006). The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nature Genetics, 38(6), 674-81. https://doi.org/10.1038/ng1786

@article{ac197acc03bd45bc9845491cf95f9a18,

title = "The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4",

keywords = "Activating Transcription Factor 4, Animals, Antigens, Neoplasm, Female, Genetic Linkage, Humans, In Situ Hybridization, Male, Mutation, Neoplasm Proteins, Pedigree, Syndrome, Zebrafish",

author = "Sayer, \{John A\} and Otto, \{Edgar A\} and O'Toole, \{John F\} and Gudrun Nurnberg and Kennedy, \{Michael A\} and Christian Becker and Hennies, \{Hans Christian\} and Juliana Helou and Massimo Attanasio and Fausett, \{Blake V\} and Boris Utsch and Hemant Khanna and Yan Liu and Iain Drummond and Isao Kawakami and Takehiro Kusakabe and Motoyuki Tsuda and Li Ma and Hwankyu Lee and Larson, \{Ronald G\} and Allen, \{Susan J\} and Wilkinson, \{Christopher J\} and Nigg, \{Erich A\} and Chengchao Shou and Concepcion Lillo and Williams, \{David S\} and Bernd Hoppe and Kemper, \{Markus J\} and Thomas Neuhaus and Parisi, \{Melissa A\} and Glass, \{Ian A\} and Marianne Petry and Andreas Kispert and Joachim Gloy and Athina Ganner and Gerd Walz and Xueliang Zhu and Daniel Goldman and Peter Nurnberg and Anand Swaroop and Leroux, \{Michel R\} and Friedhelm Hildebrandt",

year = "2006",

doi = "10.1038/ng1786",

language = "English",

volume = "38",

pages = "674--81",

journal = "Nature Genetics",

issn = "1546-1718",

publisher = "Nature Research",

number = "6",

}

Sayer, JA, Otto, EA, O'Toole, JF, Nurnberg, G, Kennedy, MA, Becker, C, Hennies, HC, Helou, J, Attanasio, M, Fausett, BV, Utsch, B, Khanna, H, Liu, Y, Drummond, I, Kawakami, I, Kusakabe, T, Tsuda, M, Ma, L, Lee, H, Larson, RG, Allen, SJ, Wilkinson, CJ, Nigg, EA, Shou, C, Lillo, C, Williams, DS, Hoppe, B, Kemper, MJ, Neuhaus, T, Parisi, MA, Glass, IA, Petry, M, Kispert, A, Gloy, J, Ganner, A, Walz, G, Zhu, X, Goldman, D, Nurnberg, P, Swaroop, A, Leroux, MR & Hildebrandt, F 2006, 'The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4', Nature Genetics, vol. 38, no. 6, pp. 674-81. https://doi.org/10.1038/ng1786

TY - JOUR

T1 - The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

AU - Sayer, John A

AU - Otto, Edgar A

AU - O'Toole, John F

AU - Nurnberg, Gudrun

AU - Kennedy, Michael A

AU - Becker, Christian

AU - Hennies, Hans Christian

AU - Helou, Juliana

AU - Attanasio, Massimo

AU - Fausett, Blake V

AU - Utsch, Boris

AU - Khanna, Hemant

AU - Liu, Yan

AU - Drummond, Iain

AU - Kawakami, Isao

AU - Kusakabe, Takehiro

AU - Tsuda, Motoyuki

AU - Ma, Li

AU - Lee, Hwankyu

AU - Larson, Ronald G

AU - Allen, Susan J

AU - Wilkinson, Christopher J

AU - Nigg, Erich A

AU - Shou, Chengchao

AU - Lillo, Concepcion

AU - Williams, David S

AU - Hoppe, Bernd

AU - Kemper, Markus J

AU - Neuhaus, Thomas

AU - Parisi, Melissa A

AU - Glass, Ian A

AU - Petry, Marianne

AU - Kispert, Andreas

AU - Gloy, Joachim

AU - Ganner, Athina

AU - Walz, Gerd

AU - Zhu, Xueliang

AU - Goldman, Daniel

AU - Nurnberg, Peter

AU - Swaroop, Anand

AU - Leroux, Michel R

AU - Hildebrandt, Friedhelm

PY - 2006

Y1 - 2006

KW - Activating Transcription Factor 4

KW - Animals

KW - Antigens, Neoplasm

KW - Female

KW - Genetic Linkage

KW - Humans

KW - In Situ Hybridization

KW - Male

KW - Mutation

KW - Neoplasm Proteins

KW - Pedigree

KW - Syndrome

KW - Zebrafish

U2 - 10.1038/ng1786

DO - 10.1038/ng1786

M3 - Article

C2 - 16682973

SN - 1546-1718

VL - 38

SP - 674

EP - 681

JO - Nature Genetics

JF - Nature Genetics

IS - 6

ER -