Expression and In Vivo Rescue of Human ABCC6 Disease-Causing Mutants in Mouse Liver

ABCC6 as a Target in Pseudoxanthoma Elasticum

(2011) Andras Varadi et al.   CURRENT DRUG TARGETS

In Vitro Recovery of ATP-Sensitive Potassium Channels in  -Cells From Patients With Congenital Hyperinsulinism of Infancy

(2011) P. D. Powell et al.   DIABETES

Parabiotic Heterogenetic Pairing of Abcc6−/−/Rag1−/− Mice and Their Wild-Type Counterparts Halts Ectopic Mineralization in a Murine Model of Pseudoxanthoma Elasticum

(2010) Qiujie Jiang et al.   AMERICAN JOURNAL OF PATHOLOGY

The ERK1/2-Hepatocyte Nuclear Factor 4α Axis Regulates HumanABCC6Gene Expression in Hepatocytes

(2010) Hugues de Boussac et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Clustering of disease-causing mutations on the domain–domain interfaces of ABCC6

(2009) Krisztina Fülöp et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

The R1141X Loss-of-Function Mutation of the ABCC6 Gene Is a Strong Genetic Risk Factor for Coronary Artery Disease

(2009) Gabriella Köblös et al.   Genetic Testing and Molecular Biomarkers

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

Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin

(2009) Peter V. E. van den Berghe et al.   HEPATOLOGY

Pseudoxanthoma Elasticum: Molecular Genetics and Putative Pathomechanisms

(2009) Jouni Uitto et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Heterozygosity for a Single Mutation in the ABCC6 Gene May Closely Mimic PXE

(2008) Ludovic Martin et al.   ARCHIVES OF DERMATOLOGY

Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms

(2008) Qiaoli Li et al.   EXPERIMENTAL DERMATOLOGY

An Alternative Splice Variant inAbcc6, the Gene Causing Dystrophic Calcification, Leads to Protein Deficiency in C3H/He Mice

(2008) Zouhair Aherrahrou et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Pseudoxanthoma Elasticum Is a Metabolic Disease

(2008) Qiujie Jiang et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY