Results 21 to 30 of about 9,465 (268)

COMMD3 Regulates Copper Metabolism via the ATOX1-ATP7A-LOX Axis to Promote Multiple Myeloma Progression

Biomedicines
Background: Multiple myeloma (MM) is a hematologic malignancy characterized by the clonal proliferation of plasma cells, with extramedullary myeloma (EMM) being an aggressive form involving malignant infiltration beyond the bone marrow. Copper metabolism
Yajun Wang, Bo Zhang, Fengjuan Fan, Fei Zhao, Jian Xu, Yuhuan Zheng, Chunyan Sun, Yu Hu   +7 more
openalex   +2 more sources

Intravenous AAV9-ATP7A plus subcutaneous copper histidinate optimizes outcomes in a lethal Menkes disease mouse model [PDF]

Sci Adv
Menkes disease is an X-linked recessive condition characterized by seizures, failure to thrive, and rapid, progressive neurodegeneration beginning within weeks after birth. Death usually occurs by 3 years of age.
Venkataraman L, Jeanty C, Kaniganti T, Kennedy B, Sullivan P, Goldstein D, Kaler S.   +6 more
europepmc   +2 more sources

Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A. No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15 [PDF]

Frontiers in Molecular Neuroscience, 2021
Disease-causing variants in ATP7A lead to two different phenotypes associated with copper deficiency; a lethal form called Menkes disease (MD), leading to early death, and a much milder form called occipital horn syndrome (OHS).
Lisbeth Birk Møller, Mie Mogensen, David D. Weaver, Per Amstrup Pedersen   +3 more
doaj   +5 more sources

Differential expression of ATP7A, ATP7B and CTR1 in adult rat dorsal root ganglion tissue

Molecular Pain, 2010
Background ATP7A, ATP7B and CTR1 are metal transporting proteins that control the cellular disposition of copper and platinum drugs, but their expression in dorsal root ganglion (DRG) tissue and their role in platinum-induced neurotoxicity are unknown ...
Ip Virginia, Liu Johnson J, Mercer Julian FB, McKeage Mark J   +3 more
doaj   +2 more sources

Sensitization of cancer cells towards Cisplatin and Carboplatin by protein kinase D inhibitors through modulation of ATP7A/B (copper transport ATPases)

Cancer Treatment and Research Communications, 2022
Drug resistance of cancer cells is a significant impediment to effective chemotherapy. One primary reason for this is copper exporters - ATPase copper transporting alpha (ATP7A) and ATPase copper transporting beta (ATP7B). These molecular pumps belong to
Prajit Janardhanan, Aswathi Kodenchery Somasundaran, Anjali Jayasree Balakrishnan, Rajendra Pilankatta   +3 more
doaj   +2 more sources

ATP7A as a prognostic biomarker and potential therapeutic target in gastric cancer. [PDF]

Am J Transl Res
OBJECTIVES To investigate the roles of Cu transporter ATPase copper transporting alpha (ATP7A) in gastric cancer (GC) progression and prognosis. METHODS ATP7A expression was investigated using databases, immunohistochemistry (IHC) and qPCR in tumor ...
Shi Z, Mao Z, Cui M, Xu D, Wang Y, Jing R.   +5 more
europepmc   +2 more sources

Quantitative Ubiquitinomics Revealed Abnormal Ubiquitinated ATP7A Involved in Down-Regulation of ACTH in Silent Corticotroph Adenomas

Frontiers in Endocrinology, 2022
Ubiquitination is reported to be a critical biological event on ACTH secretion in corticotroph adenomas. However, the effect of ubiquitylation on ACTH secretion in silent corticotroph adenomas (SCAs) remains unclear.
Sida Zhao, Yue He, Hongyun Wang, Dan Li, Lei Gong, Yazhuo Zhang, Yazhuo Zhang, Chuzhong Li   +7 more
doaj   +2 more sources

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, Xin-Ming Ma, Rajaâ El Meskini, Joel S. Pachter, Richard E. Mains, Betty A. Eipper   +5 more
doaj   +2 more sources

The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation [PDF]

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, Santana Alfredo, Villegas-Sepúlveda Nicolás, Pérez-González Concepción, Henrríquez-Esquíroz José M, de León-García Carlota, Wong Carlos, Baeza Isabel   +7 more
doaj   +2 more sources

Exon duplications in the ATP7A gene: Frequency and Transcriptional Behaviour [PDF]

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, Skjørringe Tina, Kodama Hiroko, Silver Kenneth, Horn Nina, Møller Lisbeth B   +5 more
doaj   +3 more sources