Results 31 to 40 of about 9,465 (268)
Molecular MetabolismObjectives: Adipocyte fate determination is tightly regulated by extrinsic signaling pathways and intrinsic metabolic and morphologic changes that maintain adipose tissue function.
H. Yang +5 more
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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
Francesco Tadini‐Buoninsegni +1 more
openalex +4 more sources
Copper Toxicity Associated With an ATP7A-Related Complex Phenotype [PDF]
Pediatric Neurology, 2021 The ATP7A gene encodes a copper transporter whose mutations cause Menkes disease, occipital horn syndrome (OHS), and, less frequently, ATP7A-related distal hereditary motor neuropathy (dHMN). Here we describe a family with OHS caused by a novel mutation in the ATP7A gene, including a patient with a comorbid dHMN that worsened markedly after being ...
Daniel Natera-de Benito +15 more
openaire +6 more sources
Regulation of murine copper homeostasis by members of the COMMD protein family
Disease Models & Mechanisms, 2021 Copper is an essential transition metal for all eukaryotes. In mammals, intestinal copper absorption is mediated by the ATP7A copper transporter, whereas copper excretion occurs predominantly through the biliary route and is mediated by the paralog ATP7B.
Amika Singla +9 more
doaj +1 more source
An Ile/Val polymorphism at codon 1464 of the ATP7A gene [PDF]
Journal of Human Genetics, 1999 An isoleucine/valine polymorphism was observed at codon 1464 of the ATP7A gene, which is thought to encode a copper transporting adenosine triphosphatase (ATPase). The frequency of Val1464 was estimated to be 5.7% in the Japanese population. This polymorphism may be useful in genetic studies of Menkes disease.
Atsushi Ogawa +5 more
openalex +3 more sources
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, Stephen, Kaler
openaire +2 more sources
Endoplasmic reticulum stress is involved in response of human laryngeal carcinoma cells to carboplatin but is absent in carboplatin resistant cells [PDF]
, 2013 The major obstacle of successful tumor treatment with carboplatin (CBP) is the development of drug resistance. In the present study, we found that following treatment with CBP the amount of platinum which enters the human laryngeal carcinoma (HEp2 ...
Ambriović-Ristov, Andreja +9 more
core +9 more sources
NON-REDUNDANT ROLES OF COPPER TRANSPORTERS ATP7A AND ATP7B IN NORADRENERGIC SIGNALING [PDF]
bioRxivShubhrajit Roy +17 more
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Conditional knockout of the Menkes disease copper transporter demonstrates its critical role in embryogenesis. [PDF]
PLoS ONE, 2012 The transition metal, copper (Cu), is an enzymatic cofactor required for a wide range of biochemical processes. Its essentiality is demonstrated by Menkes disease, an X-linked copper deficiency disorder characterized by defects in nervous ...
Yanfang Wang +4 more
doaj +1 more source
Disease Models & Mechanisms, 2020 ATP7A encodes a copper-transporting P-type ATPase and is one of 23 genes in which mutations produce distal hereditary motor neuropathy (dHMN), a group of diseases characterized by length-dependent axonal degeneration of motor neurons.
Gonzalo Perez-Siles +13 more
doaj +1 more source