Results 111 to 120 of about 5,775 (200)
Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant
Scientific ReportsMenkes disease is an X-linked disorder of copper metabolism caused by mutations in the ATP7A gene, and female carriers are usually asymptomatic. We describe a 7-month-old female patient with severe intellectual disability, epilepsy, and low levels of ...
Ayumi Matsumoto +16 more
doaj +1 more source
Role of the P-Type ATPases, ATP7A and ATP7B in brain copper homeostasis
, 2013 Role of the P-Type ATPases, ATP7A and ATP7B in brain copper ...
Jonathon Telianidis (13077369) +3 more
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, 2011 ATP7A MUTATIONS CAUSING DISTAL HEREDITARY MOTOR NEUROPATHY: IS COPPER A MISSING LINK IN MOTOR ...
ML Kennerson (14473314) +6 more
core
, 2011 Clusterin (APOJ) : a molecular chaperone that facilitates degradation of the copper-ATPases ATP7A and ...
L Klomp (13715869) +4 more
core
, 2018 Copper is a very important component in the body for various cellular functions but an imbalance in its levels can be very toxic to the body. ATP7A and ATP7B are important to provide instructions in making proteins that regulate copper levels in the ...
Calindi, Aparna
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Eriocitrin Attenuates Diabetic Cardiomyopathy by Regulating Copper Homeostasis and Cuproptosis-Associated Pathways via SIRT7/YAP/ATP7A Signalling. [PDF]
Basic Clin Pharmacol ToxicolChen L, Mao S, Yu Y, Zhang D, Fan Z.
europepmc +1 more source
ATP7A Orchestrates Tumor Progression and Cuproptosis in Hepatocellular Carcinoma via the LINC02038-miR-506-3p Regulatory Circuit. [PDF]
J Biochem Mol ToxicolLiu Z, Shan W, Zhou W, Long M, Yang L.
europepmc +1 more source
, 2008 Glutaredoxin and glutathione play a role in regulating the activity of the copper transporting ATPases, ATP7A and ...
M Cater (13694599) +5 more
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A SINE-like insertion in intron 13 of the ATP7A gene is associated with a mild form of Menkes-like disease in a Cavalier King Charles Spaniel. [PDF]
J Vet Intern MedFulton EA +4 more
europepmc +1 more source