Abstract The Na+/I− symporter (NIS) is the plasma membrane glycoprotein that mediates
active I− transport in the thyroid and other tissues, such as salivary glands, stomach …

Manganese (Mn) is an essential metal, but elevated cellular levels are toxic and may lead to
the development of an irreversible parkinsonian-like syndrome that has no treatment. Mn …

The most prevalent cystic fibrosis transmembrane conductance regulator (CFTR) mutation
causing cystic fibrosis, ΔF508, impairs folding of nucleotide binding domain (NBD) 1 and …

We previously showed that blind rats whose vision was restored by gene transfer of
Chlamydomonas channelrhodopsin-2 (ChR2) could only detect wavelengths less than 540 …

Cystic fibrosis transmembrane conductance regulator (CFTR) carrying the F508del mutation
is retained in endoplasmic reticulum and fails to traffic to the cell surface where it functions …

Purpose.: Fifteen missense mutations in the frizzled family receptor 4 (FZD4) reported to
cause familial exudative vitreoretinopathy (FEVR) were evaluated to establish the …

The overwhelming amount of available genomic sequence variation information demands a
streamlined approach to examine known pathogenic mutations of any given protein. Here …

Abstract Multidrug resistance protein 1 (MRP1) extrudes drugs as well as pharmacologically
and physiologically important organic anions across the plasma membrane in an ATP …

Osmolytes are low molecular weight organic molecules accumulated by organisms to assist
proper protein folding, and to provide protection to the structural integrity of proteins under …

Cystic fibrosis (CF), the most common autosomal recessive disease in Caucasians, is due to
mutations in the CFTR gene. F508del, the most frequent mutation in patients, impairs CFTR …