Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

(2015) Tobias B. Haack et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology

(2014) Sílvia Vilarinho et al.   JOURNAL OF HEPATOLOGY

Implications of genomic signatures in the differential vulnerability to fetal alcohol exposure in C57BL/6 and DBA/2 mice

(2014) Amy C. Lossie et al.   Frontiers in Genetics

Perilipin discerns chronic from acute hepatocellular steatosis

(2013) Lena Maria Pawella et al.   JOURNAL OF HEPATOLOGY

DHX34 and NBAS form part of an autoregulatory NMD circuit that regulates endogenous RNA targets in human cells, zebrafish and Caenorhabditis elegans

(2013) Dasa Longman et al.   NUCLEIC ACIDS RESEARCH

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

(2012) Tobias B. Haack et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation

(2010) J. Lubbehusen et al.   HUMAN MOLECULAR GENETICS

Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huet anomaly

(2010) N. Maksimova et al.   JOURNAL OF MEDICAL GENETICS

Pattern of Diagnostic Evaluation for the Causes of Pediatric Acute Liver Failure: An Opportunity for Quality Improvement

(2009) Michael R. Narkewicz et al.   JOURNAL OF PEDIATRICS

What are ‘true normal’ liver stiffness values using FibroScan®?: a prospective study in healthy living liver and kidney donors in South Korea

(2009) Seung Up Kim et al.   LIVER INTERNATIONAL

p31 Deficiency Influences Endoplasmic Reticulum Tubular Morphology and Cell Survival

(2009) T. Uemura et al.   MOLECULAR AND CELLULAR BIOLOGY

Identification of the Neuroblastoma-amplified Gene Product as a Component of the Syntaxin 18 Complex Implicated in Golgi-to-Endoplasmic Reticulum Retrograde Transport

(2009) Takehiro Aoki et al.   MOLECULAR BIOLOGY OF THE CELL

Differential pattern of lipid droplet-associated proteins andde novoperilipin expression in hepatocyte steatogenesis

(2008) Beate Katharina Straub et al.   HEPATOLOGY