(A) The intron-exon structure of the gene. The novel mutations are shown in bold. (B) Different domains of the protein. Abbreviations: aa; amino acid; CBDs, copper binding domains; TMS, transmembrane segment and A-domain (actuator domain). The numbers refer to amino acid positions.</p
After cellular uptake, Copper (Cu) ions are transferred from the chaperone Atox1 to the Wilson disea...
After cellular uptake, Copper (Cu) ions are transferred from the chaperone Atox1 to the Wilson disea...
<p>A: Domain structure of myosin VIIa showing the nonsense mutation introduces a premature stop codo...
<p>(A) Protein alignment showed conservation of residues ABCA4 Y808X and G607R across nine species. ...
<p>The paired domain of wild-type Pax2 domain DNA are represented by red and white ribbons, respecti...
Wilson Disease (WD) is a hereditary genetic disorder, which coincides with a dysfunctional copper (C...
<p>The paired domain of PAX family proteins (DNA binding domain) is well conserved among PAX family ...
Orange boxes correspond to exons, lines to introns. Homology to proteins in the BLOCKS database [38]...
A. Crystal structure of arrestin-3 (Protein Data Bank entry 3P2D [33]) with selected mutations indic...
<p><b>A)</b> Location of the suppressor mutations found in the revertants. The positions where suppr...
<p><i>Black lined circle:</i> Mutations reported recently <a href="http://www.plosone.org/article/in...
<p>Gene and protein identifiers are shown together with the PDB code of structural evidence of inter...
<p>The P (phosphorylation) domain, N (nucleotide binding) domain and A (actuator) domains are indica...
[[abstract]]Wilson disease is a copper metabolism disorder caused by mutations in ATP7B, a copper-tr...
<p>(A) The intron/exon gene structure of <i>rpm-1</i> (gray boxes) is shown at top. At bottom is the...
After cellular uptake, Copper (Cu) ions are transferred from the chaperone Atox1 to the Wilson disea...
After cellular uptake, Copper (Cu) ions are transferred from the chaperone Atox1 to the Wilson disea...
<p>A: Domain structure of myosin VIIa showing the nonsense mutation introduces a premature stop codo...
<p>(A) Protein alignment showed conservation of residues ABCA4 Y808X and G607R across nine species. ...
<p>The paired domain of wild-type Pax2 domain DNA are represented by red and white ribbons, respecti...
Wilson Disease (WD) is a hereditary genetic disorder, which coincides with a dysfunctional copper (C...
<p>The paired domain of PAX family proteins (DNA binding domain) is well conserved among PAX family ...
Orange boxes correspond to exons, lines to introns. Homology to proteins in the BLOCKS database [38]...
A. Crystal structure of arrestin-3 (Protein Data Bank entry 3P2D [33]) with selected mutations indic...
<p><b>A)</b> Location of the suppressor mutations found in the revertants. The positions where suppr...
<p><i>Black lined circle:</i> Mutations reported recently <a href="http://www.plosone.org/article/in...
<p>Gene and protein identifiers are shown together with the PDB code of structural evidence of inter...
<p>The P (phosphorylation) domain, N (nucleotide binding) domain and A (actuator) domains are indica...
[[abstract]]Wilson disease is a copper metabolism disorder caused by mutations in ATP7B, a copper-tr...
<p>(A) The intron/exon gene structure of <i>rpm-1</i> (gray boxes) is shown at top. At bottom is the...
After cellular uptake, Copper (Cu) ions are transferred from the chaperone Atox1 to the Wilson disea...
After cellular uptake, Copper (Cu) ions are transferred from the chaperone Atox1 to the Wilson disea...
<p>A: Domain structure of myosin VIIa showing the nonsense mutation introduces a premature stop codo...