Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive
inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein …

Pathological (ectopic) mineralization of soft tissues occurs during aging, in several common
conditions such as diabetes, hypercholesterolemia, and renal failure and in certain genetic …

The folding/misfolding and pharmacological rescue of multidomain ATP-binding cassette
(ABC) C-subfamily transporters, essential for organismal health, remain incompletely …

The folding and misfolding mechanism of multidomain proteins remains poorly understood.
Although thermodynamic instability of the first nucleotide-binding domain (NBD1) of ΔF508 …

Pseudoxanthoma elasticum (PXE), a prototypic heritable disorder with ectopic
mineralization, manifests with characteristic skin findings, ocular involvement and …

Transmembrane protein coding genes are commonly associated with human diseases. We
characterized disease causing mutations and natural polymorphisms in transmembrane …

Abnormal mineralization occurs in the context of several common conditions, including
advanced age, diabetes, hypercholesterolemia, chronic renal failure, and certain genetic …

The cystic fibrosis transmembrane conductance regulator (CFTR) is a member of the ATP-
binding cassette (ABC) transporter superfamily. CFTR controls the flow of anions through the …

Loss-of-function mutations in ABCC6 can cause chronic or acute forms of dystrophic
mineralization described in disease models such as pseudoxanthoma elasticum (OMIM …

Cystic Fibrosis (CF) is caused by mutations in the CFTR gene, of which over 2000 have
been reported to date. Mutations have yet to be analyzed in aggregate to assess their …