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)
Loss-of-function mutations in the copper (Cu) transporter ATP7A cause
Menkes disease
.
Menkes
is an infantile, fatal, hereditary copper-deficiency disorder that is characterized by progressive neurological injury culminating in death, typically by 3 years of age. Severe copper deficiency leads to
multiple pathologies
, including impaired energy generation caused by cytochrome c oxidase dysfunction in the mitochondria. Here we report that the small molecule elesclomol escorted copper to the mitochondria and increased cytochrome c oxidase levels in the brain. Through this mechanism, elesclomol prevented detrimental neurodegenerative changes and improved the survival of the mottled-brindled mouse-a murine model of severe
Menkes disease
. Thus, elesclomol holds promise for the treatment of
Menkes
and associated disorders of hereditary copper deficiency.
...
PMID:Elesclomol alleviates Menkes pathology and mortality by escorting Cu to cuproenzymes in mice. 3238 7
