Results 161 to 170 of about 5,775 (200)

Glioblastoma stem cells resist cuproptosis with circadian variation of copper levels. [PDF]

J Clin Invest
Yuan F, Wu X, Yuan H, Wang D, Huang T, Zhang P, Mi H, Wu W, Taori S, Chan P, Miki K, Ghoche MT, Zhao L, Abdullah KG, Kay SA, Wu Q, Rich JN.   +16 more
europepmc   +1 more source

Multifaceted Role of Copper Homeostasis in Gut Health: From Molecular Mechanisms to Therapeutic Interventions. [PDF]

Cells
Lu F, Wang X, Xue X, Liu L, Li D, Liu A, Qin S, Liu L.   +7 more
europepmc   +1 more source

Cisplatin resistance in ovarian cancer: exploration and insights from metal ion homeostasis imbalance. [PDF]

Front Cell Dev Biol
Chen C, Li Y, Zhang Y, Liu S, Li Y, Shen L.   +5 more
europepmc   +1 more source

ATP7A Trafficking and Mechanisms Underlying the Distal Motor Neuropathy Induced by Mutations in ATP7A [PDF]

Annals of the New York Academy of Sciences, 2014
Diverse mutations in the gene encoding the copper transporter ATP7A lead to X‐linked recessive Menkes disease or occipital horn syndrome. Recently, two unique ATP7A missense mutations, T994I and P1386S, were shown to cause isolated adult‐onset distal motor neuropathy. These mutations induce subtle defects in ATP7A intracellular trafficking resulting in
Ling Yi
exaly   +3 more sources

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A Patient With Early-Onset SMAX3 and a Novel Variant of ATP7A

Brain and Development, 2022
To describe clinical and genetic studies on a patient with early-onset spinal muscular atrophyX3 (SMAX3) with novel variant of ATP7A.Clinical, neurophysiological, neuroimaging and pathological examinations were performed. Whole exome sequencing was applied to search genetic bases of this patient.The patient had gait abnormality from early infantile ...
Noriko Togashi
exaly   +3 more sources

ATP7A (Menkes Protein) Functions in Axonal Targeting and Synaptogenesis [PDF]

Molecular and Cellular Neurosciences, 2007
Menkes disease (MD) is a neurodegenerative disorder caused by mutations in the copper transporter, ATP7A, a P-type ATPase. We previously used the olfactory system to demonstrate that ATP7A expression is developmentally, not constitutive, regulated, peaking during synaptogenesis when it is highly expressed in extending axons in a copper-independent ...
Richard Mains, Elizabeth A. Eipper, Gabriele V Ronnett   +2 more
exaly   +3 more sources

Copper Transport During Lactation in Transgenic Mice Expressing the Human ATP7A Protein

Biochemical and Biophysical Research Communications, 2008
Both copper transporting ATPases, ATP7A and ATP7B, are expressed in mammary epithelial cells but their role in copper delivery to milk has not been clarified. We investigated the role of ATP7A in delivery of copper to milk using transgenic mice that over-
Agnes Michalczyk, Leigh Ackland, Maria C Linder   +2 more
exaly   +1 more source

Menkes disease in Korea: ATP7A mutation and epilepsy phenotype

Brain and Development, 2015
Menkes disease (MD) is an X-linked recessive disorder characterized by progressive neuro-degeneration. There are few reports of epilepsy and electroencephalography (EEG) findings and few reports of MD patients in Korea. We explored MD genotypes and phenotypes, including epilepsy, in Korean patients.All patients diagnosed as MD in our hospital, seven ...
Jin Sook, Lee, Byung Chan, Lim, Ki Joong, Kim, Yong Seung, Hwang, Jung-Eun, Cheon, In-One, Kim, Moon-Woo, Seong, Sung Sup, Park, Jong-Hee, Chae   +8 more
openaire   +2 more sources

Copper-transporting ATPases ATP7A and ATP7B: cousins, not twins

Journal of Bioenergetics and Biomembranes, 2007
Copper plays an essential role in human physiology and is indispensable for normal growth and development. Enzymes that are involved in connective tissue formation, neurotransmitter biosynthesis, iron transport, and others essential physiological processes require copper as a cofactor to mediate their reactions. The biosynthetic incorporation of copper
Rachel, Linz, Svetlana, Lutsenko
openaire   +2 more sources

Clusterin and COMMD1 Independently Regulate Degradation of the Mammalian Copper ATPases ATP7A and ATP7B

Journal of Biological Chemistry, 2012
Clusterin and COMMD1 independently regulate degradation of the mammalian copper ATPases ATP7A and ...
Sharon La Fontaine, Michael A Cater, Leo W J Klomp   +2 more
exaly   +1 more source