Results 101 to 110 of about 5,775 (200)

Copper accumulation in senescent cells: Interplay between copper transporters and impaired autophagy

Redox Biology, 2018
Cellular senescence is characterized by irreversible growth arrest incurred through either replicative exhaustion or by pro-oncogenic cellular stressors (radioactivity, oxidative stress, oncogenic activation). The enrichment of senescent cells in tissues
Shashank Masaldan, Sharnel A.S. Clatworthy, Cristina Gamell, Zoe M. Smith, Paul S. Francis, Delphine Denoyer, Peter M. Meggyesy, Sharon La Fontaine, Michael A. Cater   +8 more
doaj   +1 more source

ATP7A MUTATIONS CAUSING DISTAL HEREDITARY MOTOR NEUROPATHY: IS COPPER A MISSING LINK IN MOTOR NEUROPATHIES?

, 2022
ATP7A MUTATIONS CAUSING DISTAL HEREDITARY MOTOR NEUROPATHY: IS COPPER A MISSING LINK IN MOTOR ...
Roxana Llanos (13091313), R Chaudhry (13600189), S Chu (9878609), Julian Mercer (13076475), M L Kennerson (13515337), G A Nicholson (13505101), C Ly (13600192)   +6 more
core  

Engineered Multifunctional Hydrogel Delivering Novel CBX7 Inhibitor Modulates Cuproptosis Via Liquid–Liquid Phase Separation to Restore Cardiac Function in Aged Myocardial Infarction

Advanced Science
Cardiac repair after myocardial ischemia–reperfusion (MIR) declines with aging. This study shows that Chromobox 7 (CBX7) acts in an age‐dependent manner, in young hearts, it promotes cardiomyocyte proliferation, whereas in aged hearts, CBX7 forms liquid ...
Jun Liu, Peng Qu, Jiao Shi, Tingting Liang, Yao Gu, Xue Li, Cui Ma, Danyang Zhao, Feila Liu, Qi Liang, Panke Cheng, Qian Lei   +11 more
doaj   +1 more source

ATP7A as a prognostic biomarker and potential therapeutic target in gastric cancer

American Journal of Translational Research
To investigate the roles of Cu transporter ATPase copper transporting alpha (ATP7A) in gastric cancer (GC) progression and prognosis.ATP7A expression was investigated using databases, immunohistochemistry (IHC) and qPCR in tumor tissues and GC cell lines.
Zhongmei, Shi, Zhiyun, Mao, Ming, Cui, Dongjin, Xu, Yan, Wang, Rongrong, Jing   +5 more
openaire   +2 more sources

Retropseudogene insertion generated through retrotransposition in the ATP7A gene results in premature stop codons and a case of Menkes disease

Frontiers in Neurology
Pathogenic variants in the ATP7A gene, which encodes a transmembrane copper-transporting P-type ATPase, underlie Menkes disease, a rare X-linked recessive disorder of copper metabolism.
Mengyao Kou, Bin Ren, Mengnan Xing, Lijuan Chen, Xiangping Xu   +4 more
doaj   +1 more source

An overview and update of ATP7A mutations leading to menkes disease and occipital horn syndrome

, 2013
Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar "kinky" hair, are the main manifestations.
Tümer, Zeynep
core   +1 more source

Menkes disease – a rare disorder requiring interdisciplinary management

Pediatria Polska
Menkes disease is a rare, X-linked recessive neurodegenerative disorder caused by mutations in the ATP7A gene, resulting in defective copper transport. The clinical picture is dominated by early-onset neurological decline, connective tissue abnormalities,
Magdalena Jaworek, Przemysław Hałubiec, Magdalena Janeczko, Małgorzata Steczkowska, Andrzej Jaworek, Sławomir Kroczka, Anna Wojas-Pelc, Przemko Kwinta   +7 more
doaj   +1 more source

ATP7A Gene [PDF]

, 2020
openaire   +1 more source

Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy

, 2010
Distal hereditary motor neuropathies comprise a clinically and genetically heterogeneous group of disorders. We recently mapped an X-linked form of this condition to chromosome Xq13.1-q21 in two large unrelated families.
Almeida-Souza, Leonardo, Ferguson, Toby A., Tang, Jingrong, Feely, Shawna M.E., Garbern, James Y., Nicholson, Garth A., Shy, Michael E., Mercer, Julian F.B., Kowalski, Bartosz, Scherer, Steven S., Kaler, Stephen G., De Jonghe, Peter, Timmerman, Vincent, Feely, Shawna M. E., Takata, Reinaldo I., Speck-Martins, Carlos E., Fischer, Dirk, Mercer, Julian F. B., Bird, Thomas D., Kennerson, Marina L., Chu, Shannon, Taylor, Philip E., Baets, Jonathan, de Almeida Souza, Leonardo, Llanos, Roxana M.   +24 more
core   +1 more source

ATP7A transgenic and nontransgenic mice are resistant to high copper exposure

, 2008
The protein affected in Menkes disease, ATP7A, is a copper (Cu)-transporting P-type ATPase that plays an important role in Cu homeostasis, but the full extent of this role has not been defined at a systemic level.
BX Ke (14473269), R Llanos (14447568), Julian Mercer (13076475)   +2 more
core