PuSH - Publikationsserver des Helmholtz Zentrums München

Haack, T.B. ; Staufner, C.* ; Köpke, M. ; Straub, B.K.* ; Kolker, S.* ; Thiel, C.* ; Freisinger, P.* ; Baric, I.* ; McKiernan, P.J.* ; Dikow, N.* ; Harting, I.* ; Beisse, F.* ; Burgard, P.* ; Kotzaeridou, U.* ; Kühr, J.* ; Himbert, U.* ; Taylor, R.W.* ; Distelmaier, F.* ; Vockley, J.* ; Ghaloul-Gonzalez, L.* ; Zschocke, J.* ; Kremer, L.S. ; Graf, E. ; Schwarzmayr, T. ; Bader, D.M.* ; Gagneur, J.* ; Wieland, T. ; Terrile, C. ; Strom, T.M. ; Meitinger, T. ; Hoffmann, G.F.* ; Prokisch, H.

Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy.

Am. J. Hum. Genet. 97, 163-169 (2015)
Verlagsversion DOI PMC
Open Access Gold (Paid Option)
Creative Commons Lizenzvertrag
Acute liver failure (ALF) in infancy and childhood is a life-threatening emergency. Few conditions are known to cause recurrent acute liver failure (RALF), and in about 50% of cases, the underlying molecular cause remains unresolved. Exome sequencing in five unrelated individuals with fever-dependent RALF revealed biallelic mutations in NBAS. Subsequent Sanger sequencing of NBAS in 15 additional unrelated individuals with RALF or ALF identified compound heterozygous mutations in an additional six individuals from five families. Immunoblot analysis of mutant fibroblasts showed reduced protein levels of NBAS and its proposed interaction partner p31, both involved in retrograde transport between endoplasmic reticulum and Golgi. We recommend NBAS analysis in individuals with acute infantile liver failure, especially if triggered by fever.
Altmetric
Weitere Metriken?
[➜Einloggen]
Zusatzinfos bearbeiten [➜Einloggen]
Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter Cell-survival; Gene; Deficiency; Transport
ISSN (print) / ISBN 0002-9297
e-ISSN 1537-6605
Zeitschrift American Journal of Human Genetics, The
Quellenangaben Band: 97, Heft: 1, Seiten: 163-169 Artikelnummer: , Supplement: ,
Verlag Elsevier
Verlagsort New York, NY
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Human Genetics (IHG)