Results 1 to 10 of about 5,775 (200)
Exon duplications in the
Orphanet Journal of Rare Diseases, 2011 Background Menkes disease (MD) is an X-linked, fatal neurodegenerative disorder of copper metabolism, caused by mutations in the ATP7A gene. Thirty-three Menkes patients in whom no mutation had been detected with standard diagnostic tools were screened ...
Mogensen Mie +5 more
doaj +3 more sources
Elesclomol induces copper‐dependent ferroptosis in colorectal cancer cells via degradation of ATP7A
Molecular Oncology, 2021 Cancer cells reprogram their copper metabolism to adapt to adverse microenvironments, such as oxidative stress. The copper chelator elesclomol has been reported to have considerable anticancer efficacy, but the underlying mechanisms remain largely ...
Wei Gao +5 more
doaj +2 more sources
The T1048I mutation in
BMC Pediatrics, 2012 Background The ATP7A gene encodes the ATP7A protein, which is a trans-Golgi network copper transporter expressed in the brain and other organs. Mutations in this gene cause disorders of copper metabolism, such as Menkes disease.
León-García Gregorio +7 more
doaj +3 more sources
PLoS Genetics, 2023 Copper (Cu) has a multifaceted role in brain development, function, and metabolism. Two homologous Cu transporters, Atp7a (Menkes disease protein) and Atp7b (Wilson disease protein), maintain Cu homeostasis in the tissue. Atp7a mediates Cu entry into the
Clorissa L Washington-Hughes +13 more
doaj +1 more source
Penicillamine increases free copper and enhances oxidative stress in the brain of toxic milk mice. [PDF]
PLoS ONE, 2012 Wilson disease (WD) is characterized by the accumulation of copper arising from a mutation in the ATP7B gene. Penicillamine (PA) makes 10-50% of the patients with neurologic symptoms neurologically worse at the early stage of administration.
Ding-Bang Chen +6 more
doaj +1 more source
Scientific Reports, 2022 Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) is a rare developmental and epileptic encephalopathy (DEEs) with unknown etiology, and poor prognosis.
Haiyan Yang +5 more
doaj +1 more source
Scientific Reports, 2017 Menkes disease (MD) is caused by mutations in ATP7A, encoding a copper-transporting P-type ATPase which exhibits copper-dependent trafficking.
Tina Skjørringe +5 more
doaj +1 more source
Altered ATP7A expression and other compensatory responses in a murine model of Menkes disease
Neurobiology of Disease, 2007 Mutations in the copper-transporter ATP7A lead to severe neurodegeneration in the mottled brindled hemizygous male (MoBr/y) mouse and human patients with Menkes disease.
Mark J. Niciu +5 more
doaj +1 more source
The Relationship of Pulmonary Artery Copper Concentrations and Genes Involved in Copper Homeostasis in Cattle, Swine, and Goats, [PDF]
Asian-Australasian Journal of Animal Sciences, 2012 Liver and pulmonary artery tissue from 5 Angus cross bred steers, 6 goats, and 6 pigs were collected at a commercial abattoir to examine the relationship of pulmonary artery copper (Cu) concentrations and genes involved in copper homeostasis.
Hyungchul Han +3 more
doaj +1 more source
Alpha-synuclein null mutation exacerbates the phenotype of a model of Menkes disease in female mice
Frontiers in NeuroscienceHuman SNCA, which encodes a-synuclein protein (SNCA), was the first gene linked to familial Parkinson’s disease (PD). Since the discovery of the genetic link of SNCA to Parkinson’s nearly three decades ago, many studies have investigated the normal ...
MegAnne Casey +4 more
doaj +1 more source