Results 71 to 80 of about 5,775 (200)
Schematic representation of the Atp7a gene-targeting strategy.
, 2013 Exons 8–13 of the wild type and recombinant Atp7a locus are shown. The targeting construct included LoxP sites (black triangles) that flanked exon 11 and a PGKneo gene cassette flanked by FRT sites (grey triangles).
Gary A. Weisman (36992) +4 more
core +1 more source
Novel ATP7A gene mutation in a patient with Menkes disease.
The application of clinical genetics, 2018 Menkes disease is a congenital neurodegenerative disorder caused by ATP7A gene mutations. Clinical features include epilepsy, growth delay, reduced muscle strength, skin laxity, abnormal hair, and urologic abnormalities.We describe an infant with developmental delay, neurologic degeneration, and kinky hair.
Caicedo-Herrera, Gabriela +5 more
openaire +2 more sources
JEADV Clinical Practice, EarlyView.ABSTRACT Oculocutaneous albinism (OCA) is a genetic disorder found worldwide, but its impact is particularly pronounced in the African continent. This results from both a higher prevalence and the persistent myths and superstitions surrounding the condition in many African communities.
Rebecca Donadoni +3 more
wiley +1 more source
Immunofluorescent staining of ATP7A and CTR1 in neurons and astrocytes in the Cpu.
, 2013 The slices were from tx mice with 3 days PA administration. Neurons and astrocytes were labeled with MAP2 and GFAP, respectively. (A) ATP7A (red) immunoreactivity co-localization with CTR1 (green) in CPu (yellow arrows).
Xun-Hua Li (322415) +6 more
core +1 more source
Environmental Toxicology, EarlyView.ABSTRACT Metal contamination in aquatic ecosystems poses substantial risks to freshwater organisms, with mixture effects often deviating from predictions based on single‐metal toxicity. Understanding how age‐specific sensitivities and multiple exposure pathways influence mixture effects is critical for accurate risk assessment.
Sanah Majid +3 more
wiley +1 more source
, 2016 ATP7A is a P-type ATPase essential for cellular copper (Cu) transport and homeostasis. Loss-of-function ATP7A mutations causing systemic Cu deficiency are associated with severe Menkes disease or its milder allelic variant, occipital horn syndrome.
Brennan-Speranza, Tara C +17 more
core +1 more source
Understanding exosomes in diabetic wound healing
Periodontology 2000, EarlyView.Abstract Background Diabetic wounds signify a major complication of diabetes mellitus, characterized by chronic inflammation, compromised angiogenesis, and high risk of infection, amputation, and mortality. Contemporary therapies remain limited in efficacy and durability.
Paras Ahmad +4 more
wiley +1 more source
The Journal of Physiology, EarlyView.Abstract figure legend Suboptimal maternal nutrition alters placental and developing blood–brain barrier (BBB) protective function and is associated with increased fetal brain vulnerability. In the placenta, nutritional adversity may reduce the exchange surface area and promote meta‐inflammation, compromising barrier efficiency in a model‐ and context ...
Kristin L. Connor +4 more
wiley +1 more source
Mechanisms of charge transfer in human copper ATPases ATP7A and ATP7B [PDF]
IUBMB Life, 2017 AbstractATP7A and ATP7B are Cu+‐transporting ATPases of subclass IB and play a fundamental role in intracellular copper homeostasis. ATP7A/B transfer Cu+ ions across the membrane from delivery to acceptor proteins without establishing a free Cu+ gradient. Transfer of copper across the membrane is coupled to ATP hydrolysis. Current measurements on solid
Tadini-Buoninsegni, Francesco +1 more
openaire +3 more sources
Clinical and Translational Medicine, Volume 16, Issue 11, November 2026.ATP7B is aberrantly upregulated in PDAC cells, contributing to the maintenance of copper homeostasis. We designed ATAUTAC, a targeted autophagy‐dependent degradation molecule that selectively eliminates ATP7B. By disrupting copper balance, ATAUTAC sensitizes PDAC cells to cuproptosis, thereby amplifying copper‐induced metabolic stress and effectively ...
Zihan Zhang +4 more
wiley +1 more source