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Pregled bibliografske jedinice broj: 728284

Mutations in VIPAR cause arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

Cullinane, Andrew R.; Straatman-Iwanowska, Anna; Zaucker, Andreas; Wakabayashi, Yoshiyuki; Bruce, Christopher K.; Luo, Guanmei; Rahman, Fatimah; Gurakan, Figen; Utine, Eda; Ozkan, Tanju B. et al.
Mutations in VIPAR cause arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization // Nature genetics, 42 (2010), 4; 303-312 doi:10.1038/ng.538 (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 728284 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Mutations in VIPAR cause arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

Autori
Cullinane, Andrew R. ; Straatman-Iwanowska, Anna ; Zaucker, Andreas ; Wakabayashi, Yoshiyuki ; Bruce, Christopher K. ; Luo, Guanmei ; Rahman, Fatimah ; Gurakan, Figen ; Utine, Eda ; Ozkan, Tanju B. ; Denecke, Jonas ; Vuković, Jurica ; Di Rocco, Maja ; , Mandel, Hanna ; Cangul, Hakan ; Matthews, Randolph P. ; Thomas, Steve G. ; Rappoport, Joshua Z. ; Arias, Irwin M. ; Wolburg, Hartwig ; Knisely, A.S. ; Kelly, Deirdre A. ; Muller, Ferenc ; Maher, Eamonn R. ; Gissen, Paul

Izvornik
Nature genetics (1061-4036) 42 (2010), 4; 303-312

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
VIPAR; ARC syndrome; epithelial polarization

Sažetak
Arthrogryposis, renal dysfunction and cholestasis syndrome (ARC) is a multisystem disorder associated with abnormalities in polarized liver and kidney cells. Mutations in VPS33B account for most cases of ARC. We identified mutations in VIPAR (also called C14ORF133) in individuals with ARC without VPS33B defects. We show that VIPAR forms a functional complex with VPS33B that interacts with RAB11A. Knockdown of vipar in zebrafish resulted in biliary excretion and E-cadherin defects similar to those in individuals with ARC. Vipar- and Vps33b-deficient mouse inner medullary collecting duct (mIMDC-3) cells expressed membrane proteins abnormally and had structural and functional tight junction defects. Abnormal Ceacam5 expression was due to mis-sorting toward lysosomal degradation, but reduced E-cadherin levels were associated with transcriptional downregulation. The VPS33B-VIPAR complex thus has diverse functions in the pathways regulating apical-basolateral polarity in the liver and kidney.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti



POVEZANOST RADA

Ustanove:
Medicinski fakultet, Zagreb,
Klinički bolnički centar Zagreb

Profili:

Avatar Url Jurica Vuković (autor)

Poveznice na cjeloviti tekst rada:

doi www.nature.com

Citiraj ovu publikaciju:

Cullinane, Andrew R.; Straatman-Iwanowska, Anna; Zaucker, Andreas; Wakabayashi, Yoshiyuki; Bruce, Christopher K.; Luo, Guanmei; Rahman, Fatimah; Gurakan, Figen; Utine, Eda; Ozkan, Tanju B. et al.
Mutations in VIPAR cause arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization // Nature genetics, 42 (2010), 4; 303-312 doi:10.1038/ng.538 (međunarodna recenzija, članak, znanstveni)
Cullinane, A., Straatman-Iwanowska, A., Zaucker, A., Wakabayashi, Y., Bruce, C., Luo, G., Rahman, F., Gurakan, F., Utine, E. & Ozkan, T. (2010) Mutations in VIPAR cause arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization. Nature genetics, 42 (4), 303-312 doi:10.1038/ng.538.
@article{article, author = {Cullinane, Andrew R. and Straatman-Iwanowska, Anna and Zaucker, Andreas and Wakabayashi, Yoshiyuki and Bruce, Christopher K. and Luo, Guanmei and Rahman, Fatimah and Gurakan, Figen and Utine, Eda and Ozkan, Tanju B. and Denecke, Jonas and Vukovi\'{c}, Jurica and Di Rocco, Maja and Cangul, Hakan and Matthews, Randolph P. and Thomas, Steve G. and Rappoport, Joshua Z. and Arias, Irwin M. and Wolburg, Hartwig and Knisely, A.S. and Kelly, Deirdre A. and Muller, Ferenc and Maher, Eamonn R. and Gissen, Paul}, year = {2010}, pages = {303-312}, DOI = {10.1038/ng.538}, keywords = {VIPAR, ARC syndrome, epithelial polarization}, journal = {Nature genetics}, doi = {10.1038/ng.538}, volume = {42}, number = {4}, issn = {1061-4036}, title = {Mutations in VIPAR cause arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization}, keyword = {VIPAR, ARC syndrome, epithelial polarization} }
@article{article, author = {Cullinane, Andrew R. and Straatman-Iwanowska, Anna and Zaucker, Andreas and Wakabayashi, Yoshiyuki and Bruce, Christopher K. and Luo, Guanmei and Rahman, Fatimah and Gurakan, Figen and Utine, Eda and Ozkan, Tanju B. and Denecke, Jonas and Vukovi\'{c}, Jurica and Di Rocco, Maja and Cangul, Hakan and Matthews, Randolph P. and Thomas, Steve G. and Rappoport, Joshua Z. and Arias, Irwin M. and Wolburg, Hartwig and Knisely, A.S. and Kelly, Deirdre A. and Muller, Ferenc and Maher, Eamonn R. and Gissen, Paul}, year = {2010}, pages = {303-312}, DOI = {10.1038/ng.538}, keywords = {VIPAR, ARC syndrome, epithelial polarization}, journal = {Nature genetics}, doi = {10.1038/ng.538}, volume = {42}, number = {4}, issn = {1061-4036}, title = {Mutations in VIPAR cause arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization}, keyword = {VIPAR, ARC syndrome, epithelial polarization} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

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