Current and future therapies for inherited cholestatic liver diseases

Rescue of defective ATP8B1 trafficking by CFTR correctors as a therapeutic strategy for familial intrahepatic cholestasis

(2016) Wendy L. van der Woerd et al.   JOURNAL OF HEPATOLOGY

First-in-human application of the novel hepatitis B and hepatitis D virus entry inhibitor myrcludex B

(2016) Antje Blank et al.   JOURNAL OF HEPATOLOGY

Treatment of chronic hepatitis D with the entry inhibitor myrcludex B: First results of a phase Ib/IIa study

(2016) Pavel Bogomolov et al.   JOURNAL OF HEPATOLOGY

Total internal biliary diversion during liver transplantation for type 1 progressive familial intrahepatic cholestasis: a novel approach

(2016) V. P. Mali et al.   PEDIATRIC TRANSPLANTATION

Characterizing responses to CFTR-modulating drugs using rectal organoids derived from subjects with cystic fibrosis

(2016) Johanna F. Dekkers et al.   Science Translational Medicine

Therapeutic activity of modified U1 core spliceosomal particles

(2016) Malgorzata Ewa Rogalska et al.   Nature Communications

Exon-skipping and mRNA decay in human liver tissue: molecular consequences of pathogenic bile salt export pump mutations

(2016) Carola Dröge et al.   Scientific Reports

Functional Rescue of Trafficking-Impaired ABCB4 Mutants by Chemical Chaperones

(2016) Raquel Gordo-Gilart et al.   PLoS One

Improvement of SMN2 Pre-mRNA Processing Mediated by Exon-Specific U1 Small Nuclear RNA

(2015) Andrea Dal Mas et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Long-Term Culture of Genome-Stable Bipotent Stem Cells from Adult Human Liver

(2015) Meritxell Huch et al.   CELL

Regenerative medicine: targeted genome editing in vivo

(2015) Lixia Wang et al.   CELL RESEARCH

A functional classification ofABCB4variations causing progressive familial intrahepatic cholestasis type 3

(2015) Jean-Louis Delaunay et al.   HEPATOLOGY

Analysis of aberrant pre-messenger RNA splicing resulting from mutations inATP8B1and efficientin vitrorescue by adapted U1 small nuclear RNA

(2015) Wendy L. van der Woerd et al.   HEPATOLOGY

Targeted pharmacotherapy in progressive familial intrahepatic cholestasis type 2: Evidence for improvement of cholestasis with 4-phenylbutyrate

(2015) Emmanuel Gonzales et al.   HEPATOLOGY

Pharmacological inhibition of apical sodium-dependent bile acid transporter changes bile composition and blocks progression of sclerosing cholangitis in multidrug resistance 2 knockout mice

(2015) Alexander G. Miethke et al.   HEPATOLOGY

Impaired uptake of conjugated bile acids and hepatitis b virus pres1-binding in na+-taurocholate cotransporting polypeptide knockout mice

(2015) Davor Slijepcevic et al.   HEPATOLOGY

Engineered fibroblast growth factor 19 reduces liver injury and resolves sclerosing cholangitis in Mdr2 -deficient mice

(2015) Mei Zhou et al.   HEPATOLOGY

Successful treatment with 4-phenylbutyrate in a patient with benign recurrent intrahepatic cholestasis type 2 refractory to biliary drainage and bilirubin absorption

(2015) Hisamitsu Hayashi et al.   HEPATOLOGY RESEARCH

Novel personalized therapies for cystic fibrosis: treating the basic defect in all patients

(2015) M. D. Amaral   JOURNAL OF INTERNAL MEDICINE

Total biliary diversion as a treatment option for patients with progressive familial intrahepatic cholestasis and Alagille syndrome

(2015) Wendy L. van der Woerd et al.   JOURNAL OF PEDIATRIC SURGERY

Liver-targeted gene therapy: Approaches and challenges

(2015) Rajagopal N. Aravalli et al.   LIVER TRANSPLANTATION

Cell therapy from bench to bedside: Hepatocytes from fibroblasts - the truth and myth of transdifferentiation

(2015) Madhusudana Girija Sanal   WORLD JOURNAL OF GASTROENTEROLOGY

The lipid flippase heterodimer ATP8B1–CDC50A is essential for surface expression of the apical sodium-dependent bile acid transporter (SLC10A2/ASBT) in intestinal Caco-2 cells

(2014) Vincent A. van der Mark et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Separating Tumorigenicity from Bile Acid Regulatory Activity for Endocrine Hormone FGF19

(2014) M. Zhou et al.   CANCER RESEARCH

Autoimmune BSEP Disease: Disease Recurrence After Liver Transplantation for Progressive Familial Intrahepatic Cholestasis

(2014) Ralf Kubitz et al.   CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY

Complications Following Liver Transplantation for Progressive Familial Intrahepatic Cholestasis

(2014) Jennifer Berumen et al.   DIGESTIVE DISEASES AND SCIENCES

Functional analysis ofABCB4mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity

(2014) Raquel Gordo-Gilart et al.   GUT

Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: Conjugated hypercholanemia without a clear clinical phenotype

(2014) Frédéric M. Vaz et al.   HEPATOLOGY

Cystic fibrosis: Toward personalized therapies

(2014) Pauline T. Ikpa et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Ataluren treatment of patients with nonsense mutation dystrophinopathy

(2014) Katharine Bushby et al.   MUSCLE & NERVE

Mutations in TJP2 cause progressive cholestatic liver disease

(2014) Melissa Sambrotta et al.   NATURE GENETICS

Intractable itch relieved by 4-phenylbutyrate therapy in patients with progressive familial intrahepatic cholestasis type 1

(2014) Yasuhiro Hasegawa et al.   Orphanet Journal of Rare Diseases

Outcome of partial internal biliary diversion for intractable pruritus in children with cholestatic liver disease

(2014) P. Ramachandran et al.   PEDIATRIC SURGERY INTERNATIONAL

A nontumorigenic variant of FGF19 treats cholestatic liver diseases

(2014) J. Luo et al.   Science Translational Medicine

Bile acids are nutrient signaling hormones

(2014) Huiping Zhou et al.   STEROIDS

Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial

(2014) Eitan Kerem et al.   Lancet Respiratory Medicine

Laparoscopic Button Cholecystostomy for Progressive Familial Intrahepatic Cholestasis in Two Children

(2013) Patrick Gerner et al.   EUROPEAN JOURNAL OF PEDIATRIC SURGERY

Hepatitis B and D Viruses Exploit Sodium Taurocholate Co-transporting Polypeptide for Species-Specific Entry into Hepatocytes

(2013) Yi Ni et al.   GASTROENTEROLOGY

Single-patient (n-of-1) trials: a pragmatic clinical decision methodology for patient-centered comparative effectiveness research

(2013) Naihua Duan et al.   JOURNAL OF CLINICAL EPIDEMIOLOGY

Ileal Exclusion in Children With Progressive Familial Intrahepatic Cholestasis

(2013) Irena Jankowska et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

An engineered U1 small nuclear RNA rescues splicing-defective coagulationF7gene expression in mice

(2013) D. Balestra et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

In vitro expansion of single Lgr5+ liver stem cells induced by Wnt-driven regeneration

(2013) Meritxell Huch et al.   NATURE

Vascularized and functional human liver from an iPSC-derived organ bud transplant

(2013) Takanori Takebe et al.   NATURE

Lgr5+ liver stem cells, hepatic organoids and regenerative medicine

(2013) Meritxell Huch et al.   Regenerative Medicine

Laparoscopic Cholecystocolostomy

(2012) Mei Diao et al.   ANNALS OF SURGERY

An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects

(2012) Eugenio Fernandez Alanis et al.   HUMAN MOLECULAR GENETICS

Biochemical Characterization of P4-ATPase Mutations Identified in Patients with Progressive Familial Intrahepatic Cholestasis

(2012) Alex Stone et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Normalization of serum bile acids after partial external biliary diversion indicates an excellent long-term outcome in children with progressive familial intrahepatic cholestasis

(2012) Nagoud Schukfeh et al.   JOURNAL OF PEDIATRIC SURGERY

Sodium taurocholate cotransporting polypeptide is a functional receptor for human hepatitis B and D virus

(2012) Huan Yan et al.   eLife

Effects of Cellular, Chemical, and Pharmacological Chaperones on the Rescue of a Trafficking-defective Mutant of the ATP-binding Cassette Transporter Proteins ABCB1/ABCB4

(2011) Julien Gautherot et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Partial internal biliary diversion for patients with progressive familial intrahepatic cholestasis type 1

(2011) Kyoko Mochizuki et al.   PEDIATRIC SURGERY INTERNATIONAL

Recovery of graft steatosis and protein-losing enteropathy after biliary diversion in a PFIC 1 liver transplanted child

(2011) Emanuele Nicastro et al.   PEDIATRIC TRANSPLANTATION

Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for theF508del-CFTRmutation

(2011) J P Clancy et al.   THORAX

Recurrent low gamma-glutamyl Transpeptidase cholestasis following liver transplantation for bile salt export pump (BSEP) disease (posttransplant recurrent BSEP disease)

(2010) Leah Siebold et al.   LIVER TRANSPLANTATION

An outstanding non-transplant surgical intervention in progressive familial intrahepatic cholestasis: partial internal biliary diversion

(2010) F. Gün et al.   PEDIATRIC SURGERY INTERNATIONAL

Folding defects in P-type ATP 8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate

(2009) Lieke M. van der Velden et al.   HEPATOLOGY

De novo bile salt transporter antibodies as a possible cause of recurrent graft failure after liver transplantation: A novel mechanism of cholestasis

(2009) Verena Keitel et al.   HEPATOLOGY

Mouse organic solute transporter α deficiency enhances renal excretion of bile acids and attenuates cholestasis

(2009) Carol J. Soroka et al.   HEPATOLOGY

Liver disease associated with canalicular transport defects: Current and future therapies

(2009) Janneke M. Stapelbroek et al.   JOURNAL OF HEPATOLOGY

Nontransplant surgical interventions in progressive familial intrahepatic cholestasis

(2009) Adam Rahn Davis et al.   JOURNAL OF PEDIATRIC SURGERY

Allograft steatohepatitis in progressive familial intrahepatic cholestasis type 1 after living donor liver transplantation

(2009) Aya Miyagawa-Hayashino et al.   LIVER TRANSPLANTATION

ATP8B1 is essential for maintaining normal hearing

(2009) J. M. Stapelbroek et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Severe Bile Salt Export Pump Deficiency: 82 Different ABCB11 Mutations in 109 Families

(2008) Sandra S. Strautnieks et al.   GASTROENTEROLOGY

ATP8B1 Deficiency Disrupts the Bile Canalicular Membrane Bilayer Structure in Hepatocytes, But FXR Expression and Activity Are Maintained

(2008) Shi–Ying Cai et al.   GASTROENTEROLOGY

Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing

(2008) Jane A. Byrne et al.   HEPATOLOGY

A missense mutation in ABCB4 gene involved in progressive familial intrahepatic cholestasis type 3 leads to a folding defect that can be rescued by low temperature

(2008) Jean-Louis Delaunay et al.   HEPATOLOGY

Liver retransplantation with external biliary diversion for progressive familial intrahepatic cholestasis type 1: A case report

(2008) Masanobu Usui et al.   PEDIATRIC TRANSPLANTATION

The organic solute transporter  - , Ost -Ost , is essential for intestinal bile acid transport and homeostasis

(2008) A. Rao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Adapting Proteostasis for Disease Intervention

(2008) William E. Balch et al.   SCIENCE