Results 61 to 70 of about 9,465 (268)
Molecular Structure of the Menkes Disease Gene (ATP7A)
Genomics, 1995 We report a detailed molecular analysis of the genomic structure of the Menkes disease gene (MNK; ATP7A). There are 23 exons in ATP7A covering a genomic region of approximately 140 kb. The size of the individual coding exons varies between 77 and 726 bp, and introns vary in size between 196 bp and approximately 60 kb.
H A, Dierick +4 more
openaire +2 more sources
TAp73 regulates ATP7A: possible implications for ageing-related diseases
Aging, 2018 The p53 family member p73 controls a wide range of cellular function. Deletion of p73 in mice results in increased tumorigenesis, infertility, neurological defects and altered immune system. Despite the extensive effort directed to define the molecular underlying mechanism of p73 function a clear definition of its transcriptional signature and the ...
Lopriore, Piervito +6 more
openaire +7 more sources
BLOC-2 targets recycling endosomal tubules to melanosomes for cargo delivery. [PDF]
, 2015 Hermansky-Pudlak syndrome (HPS) is a group of disorders characterized by the malformation of lysosome-related organelles, such as pigment cell melanosomes.
Acosta-Ruiz, A +15 more
core +1 more source
International journal of research and reviewMenkes’ disease (MD) is a X-linked recessive degenerative disorder, involving mutations of ATP7A gene, characterized by impaired copper transport at the intracellular level contributes to nervous system dysfunction.
Dhanush R +2 more
semanticscholar +2 more sources
Clinical and Translational Medicine, 2020 Background Breast cancer is the leading cause of death among women. Cisplatin is an effective drug for breast cancer, but resistance often develops during long term chemotherapy.
Ze Yu +4 more
doaj +1 more source
The N-terminal domains of Bacillus subtilis CopA do not form a stable complex in the absence of their inter-domain linker [PDF]
, 2018 Copper-transporting P-type ATPases, which play important roles in trafficking Cu(I) across membranes for the biogenesis of copper proteins or for copper detoxification, contain a variable number of soluble metal-binding domains at their N-termini.
Achila +44 more
core +1 more source
Atp7a determines a hierarchy of copper metabolism essential for notochord development [PDF]
Cell Metabolism, 2006 The critical developmental and genetic requirements of copper metabolism during embryogenesis are unknown. Utilizing a chemical genetic screen in zebrafish, we identified small molecules that perturb copper homeostasis. Our findings reveal a role for copper in notochord formation and demonstrate a hierarchy of copper metabolism within the embryo.
Bryce A. Mendelsohn +5 more
openalex +3 more sources
Mottled mice and non-mammalian models of Menkes disease
Frontiers in Molecular Neuroscience, 2015 Menkes disease is a multi-systemic copper metabolism disorder caused by mutations in the X-linked ATP7A gene and characterised by progressive neurodegeneration and severe connective tissue defects.
malgorzata elenartowicz +6 more
doaj +1 more source
Targeting copper metabolism to defeat KRAS-driven colorectal cancer
Molecular & Cellular Oncology, 2020 KRAS-driven cancers acquire profound metabolic dependencies that are intimately linked to tumor growth. Our work revealed that colorectal cancers that harbor KRAS mutations are addicted to copper metabolism. This adaptation renders tumor cells critically
Léo Aubert +2 more
doaj +1 more source
A CRISPR screen identifies a pathway required for paraquat-induced cell death [PDF]
, 2018 Paraquat, a herbicide linked to Parkinson's disease, generates reactive oxygen species (ROS), which causes cell death. Because the source of paraquat-induced ROS production remains unknown, we conducted a CRISPR-based positive-selection screen to ...
A Wang +47 more
core +1 more source