Results 41 to 50 of about 5,775 (200)

Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD)

Molecular Genetics and Metabolism Reports, 2020
Background: Previous estimates of the prevalence of Menkes disease, a lethal X-linked recessive disorder of copper metabolism, were based on confirmed clinical cases ascertained from specific populations and varied from 1 in 40,000 to 1 in 354,507.
Stephen G. Kaler, Carlos R. Ferreira, Lung S. Yam   +2 more
doaj   +1 more source

Copper induces Cu-ATPase ATP7A mRNA in a fish cell line, SAF1 [PDF]

, 2011
Copper transporting ATPase, ATP7A, is an ATP dependent copper pump present in all vertebrates, critical for the maintenance of intracellular and whole body copper homeostasis. Effects of copper treatment on ATP7A gene expression in fibroblast cells (SAF1)
Michael J. Leaver, Elisa Casadei, Leaver, Michael, Tom, Moshe, Matteo Minghetti, Minghetti, Matteo, Auslander, Meirav, Stephen G. George, Taggart, John, George, Stephen, Meirav Auslander, Moshe Tom, John B. Taggart, Casadei, Elisa   +13 more
core   +1 more source

PRMT5-Dependent Stabilization of VPS34 Orchestrates Copper Trafficking to Shield Cancer Cells from Cuproptosis and Radiotherapy. [PDF]

Adv Sci (Weinh)
Radioresistance arises partly from tumor cells evading cuproptosis via unknown defenses. This study reveals that the PRMT5‐VPS34 axis acts as a radiation‐activated anticuproptotic mechanism: PRMT5 methylates VPS34 at Arg174, recruiting USP10 to remove K48‐linked ubiquitination and prevent degradation.
Chen W, Xiao MY, Guo LL, Hu HY, Zhang SX, Dong BQ, Wu CF, Huang XH, Li L, Chen RZ, Huang YY, Jin Y, Song H, Wang Y, Li QW, Chen M, Li X, Chen YY.   +17 more
europepmc   +2 more sources

Splice Site Mutations in the ATP7A Gene

PLoS ONE, 2011
Menkes disease (MD) is caused by mutations in the ATP7A gene. We describe 33 novel splice site mutations detected in patients with MD or the milder phenotypic form, Occipital Horn Syndrome. We review these 33 mutations together with 28 previously published splice site mutations.
Skjørringe, Tina, Tümer, Zeynep, Møller, Lisbeth Birk   +2 more
openaire   +5 more sources

A Role for The ATP7A Copper Transporter in Tumorigenesis and Cisplatin Resistance [PDF]

Journal of Cancer, 2017
The ATP7A protein is a ubiquitously expressed copper-translocating P-type ATPase that controls cytoplasmic copper concentrations by mediating cellular copper egress. In vitro studies have previously demonstrated that ATP7A abundance in various tumor cell lines is correlated with increased resistance to cisplatin, a widely-used chemotherapy agent ...
Zhu, Sha, Shanbhag, Vinit, Wang, Yanfang, Lee, Jaekwon, Petris, Michael   +4 more
openaire   +2 more sources

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.
A, Ogawa, S, Yamamoto, M, Takayanagi, T, Kogo, M, Kanazawa, Y, Kohno   +5 more
openaire   +2 more sources

Is It a PathogenicATP7AVariation and Is It Menkes Disease? [PDF]

Case Reports in Neurological Medicine, 2015
This paper is a comment on “Menkes Disease Presenting with Epilepsia Partialis Continua.” While updating the LOVD (Leiden Open Variation Database) ATP7A mutation database (https://grenada.lumc.nl/LOVD2/MD/home.php) I came across a case described by Rizk and colleagues and published in your journal [1].
openaire   +4 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   +1 more source

Intragenic Deletions at Atp7a in Mouse Models for Menkes Disease

Genomics, 2001
Mottled mice have mutations in the copper-transporting ATPase Atp7a. They are proven models for the human disorder Menkes disease (MD), which results from mutations in a homologous gene. Mottled mice can be divided into three classes: class 1, in which affected males die before birth; class 2, in which affected males die in the early postnatal period ...
Thompson, Pamela, Cunliffe, Pamela, Reed, Vivienne, Boyd, Yvonne   +3 more
openaire   +2 more sources

ATP7A-Regulated Enzyme Metalation and Trafficking in the Menkes Disease Puzzle [PDF]

Biomedicines, 2021
Copper is vital for numerous cellular functions affecting all tissues and organ systems in the body. The copper pump, ATP7A is critical for whole-body, cellular, and subcellular copper homeostasis, and dysfunction due to genetic defects results in Menkes disease.
Nina Horn, Pernilla Wittung-Stafshede
openaire   +3 more sources