Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0022716 (
Menkes
)
1,057
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We have investigated the genetic defect of the Cu-ATPase gene (Atp7a) in the macular mouse, a genetic model of classical
Menkes disease
. Northern blot analysis showed that its placenta and kidney possess a normal amount of the Cu-
ATPase mRNA
of the normal size; sequencing analysis revealed two missense mutations, His674Arg and Ser1381 Pro, in a PCR-amplified cDNA for mutant Cu-ATPase. The latter mutation was suspected to affect the function of the ATPase, because it lies in the transmembrane segment that is thought to form a channel for the transportation of copper ions.
...
PMID:Occurrence of two missense mutations in Cu-ATPase of the macular mouse, a Menkes disease model. 938 51
