Results 31 to 40 of about 5,775 (200)

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, Abel Sola, Paulo Rego Sousa, Susana Boronat, Jessica Expósito-Escudero, Laura Carrera-García, Carlos Ortez, Cristina Jou, Jordi Muchart, Monica Rebollo, Judith Armstrong, Jaume Colomer, Àngels Garcia-Cazorla, Janet Hoenicka, Francesc Palau, Andres Nascimento   +15 more
openaire   +5 more sources

An ATP7A‐Mediated Endogenous Regulation Bio‐Clay Enzyme Enables Self‐Amplified Copper Accumulation for Immunogenic Pyrop [PDF]

Advanced science
A self‐amplifying bio‐clay nanozyme (Bio‐Clayzyme) disrupts tumor metabolic homeostasis through endogenous copper transporter ATPase (ATP7A) downregulation, enhancing cascade catalysis and triggering immunogenic pyroptosis for effective tumor immunotherapy.
Xie W, Li Y, Li G, Chen Y, Yang H.
europepmc   +2 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, Qing Chen, Kohei Suzuki, Jie Song, Alina Fedoseienko, Melinde Wijers, Adam Lopez, Daniel D. Billadeau, Bart van de Sluis, Ezra Burstein   +9 more
doaj   +1 more source

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, Sha Zhu, Gary A Weisman, Jonathan D Gitlin, Michael J Petris   +4 more
doaj   +1 more source

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

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   +1 more source

Copper induce zebrafish retinal developmental defects via triggering stresses and apoptosis

Cell Communication and Signaling, 2020
Background The disorder of copper homeostasis is linked with disease and developmental defects, and excess copper_nanoparticles (CuNPs) and ion (Cu2+) will induce developmental malformation and disease in organisms. However, little knowledge is available
Guang Zhao, HaoJie Sun, Ting Zhang, Jing-Xia Liu   +3 more
doaj   +1 more source

Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs

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, Anthony Cutrupi, Melina Ellis, Jakob Kuriakose, Sharon La Fontaine, Di Mao, Motonari Uesugi, Reinaldo I. Takata, Carlos E. Speck-Martins, Garth Nicholson, Marina L. Kennerson, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten   +13 more
doaj   +1 more source

ATP7A Clinical Genetics Resource – A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene

Computational and Structural Biotechnology Journal, 2020
ATP7A is a critical copper transporter involved in Menkes Disease, Occipital horn Syndrome and X-linked distal spinal muscular atrophy type 3 which are X linked genetic disorders. These are rare diseases and their genetic epidemiology of the diseases is unknown.
Aditi Mhaske, K.V. Dileep, Mukesh Kumar, Mukta Poojary, Kavita Pandhare, Kam Y.J. Zhang, Vinod Scaria, B.K. Binukumar   +7 more
openaire   +3 more sources

Effective Delivery of siRNA-Loaded Nanoparticles for Overcoming Oxaliplatin Resistance in Colorectal Cancer

Frontiers in Oncology, 2022
Chemotherapy resistance represents a formidable obstacle in advanced or metastatic colorectal cancer (CRC) patients. It is reported that ATPase copper transporting alpha (ATP7A) plays an important role in chemotherapy resistance in CRC.
Yue Zhou, Yue Zhou, Yue Zhou, Qing Zhang, Qing Zhang, Qing Zhang, Qing Zhang, Minjia Wang, Minjia Wang, Minjia Wang, Minjia Wang, Chengzhi Huang, Chengzhi Huang, Chengzhi Huang, Xueqing Yao, Xueqing Yao, Xueqing Yao, Xueqing Yao   +17 more
doaj   +1 more source

The interactome of the copper transporter ATP7A belongs to a network of neurodevelopmental and neurodegeneration factors

eLife, 2017
Genetic and environmental factors, such as metals, interact to determine neurological traits. We reasoned that interactomes of molecules handling metals in neurons should include novel metal homeostasis pathways.
Heather S Comstra, Jacob McArthy, Samantha Rudin-Rush, Cortnie Hartwig, Avanti Gokhale, Stephanie A Zlatic, Jessica B Blackburn, Erica Werner, Michael Petris, Priya D’Souza, Parinya Panuwet, Dana Boyd Barr, Vladimir Lupashin, Alysia Vrailas-Mortimer, Victor Faundez   +14 more
doaj   +1 more source