Results 51 to 60 of about 6,030 (184)

Lack of evidence for ribosomal frameshifting in ATP7B mRNA decoding

Molecular Cell, 2022
The research article describing the discovery of ribosomal frameshifting in the bacterial CopA gene also reported the occurrence of frameshifting in the expression of the human ortholog ATP7B based on assays using dual luciferase reporters. An examination of the publicly available ribosome profiling data and the phylogenetic analysis of the proposed ...
Loughran, Gary, Fedorova, Alla D., Khan, Yousuf A., Atkins, John F., Baranov, Pavel V.   +4 more
openaire   +2 more sources

A Novel Splice-site Allelic Variant is Responsible for Wilson Disease in an Omani Family

Sultan Qaboos University Medical Journal, 2011
Objectives: The objective of this study was to characterise Wilson's Disease (WD) [OMIM 277900] genetically and test for allelic variants in the copper transport gene (ATPase, Cu++ transporting, beta polypeptide, ATP7B) responsible for the disease in an ...
Mohammed Al-Tobi, Masoud Kashoob, Surendranath Joshi, Riad Bayoumi   +3 more
doaj  

Cuproptosis-Related Gene – SLC31A1, FDX1 and ATP7B – Polymorphisms are Associated with Risk of Lung Cancer

Pharmacogenomics and Personalized Medicine, 2022
Yuhui Yun,1,* Yun Wang,2,* Ende Yang,1 Xin Jing1 1Department of Thoracic Surgery, Tangdu Hospital, The Fourth Military Medical University, Xi’an, Shaanxi, 710038, People’s Republic of China; 2Department of Medical Oncology, Tangdu Hospital, The ...
Yun Y, Wang Y, Yang E, Jing X
doaj  

Diverse Functional Properties of Wilson Disease ATP7B Variants [PDF]

Gastroenterology, 2012
BACKGROUND & AIMS: Wilson disease is a severe disorder of copper metabolism caused by mutations in ATP7B, which encodes a copper-transporting adenosine triphosphatase. The disease presents with a variable phenotype that complicates the diagnostic process and treatment. Little is known about the mechanisms that contribute to the different phenotypes
Huster, Dominik, Kühne, Angelika, Bhattacharjee, Ashima, Raines, Lily, Jantsch, Vanessa, Noe, Johannes, Schirrmeister, Wiebke, Sommerer, Ines, Sabri, Osama, Berr, Frieder, Mössner, Joachim, Stieger, Bruno, Caca, Karel, Lutsenko, Svetlana   +13 more
openaire   +3 more sources

Copper binding leads to increased dynamics in the regulatory N-terminal domain of full-length human copper transporter ATP7B.

PLoS Computational Biology, 2022
ATP7B is a human copper-transporting P1B-type ATPase that is involved in copper homeostasis and resistance to platinum drugs in cancer cells. ATP7B consists of a copper-transporting core and a regulatory N-terminal tail that contains six metal-binding ...
Fredrik Orädd, Jonas Hyld Steffen, Pontus Gourdon, Magnus Andersson   +3 more
doaj   +1 more source

Physiologic function of the Wilson disease gene product, ATP7B [PDF]

The American Journal of Clinical Nutrition, 1998
The genes responsible for Wilson disease and Menkes syndrome have been cloned and identified as copper ATPases. These enzymes form part of a large family of transporters, the P-type ATPases. Although copper ATPases share strong structural similarities with these other pumps, comparatively little is known about their physiologic function. In this review,
M J, Bingham, T J, Ong, K H, Summer, R B, Middleton, H J, McArdle   +4 more
openaire   +2 more sources

Integrated spherical nucleic acid nanoreactor mobilizes targeted PD‐L1 proteolysis and cuproptosis for robust breast cancer immunotherapy

BMEMat, EarlyView.
This study provides an integrated spherical nucleic acid nanoreactor (denoted as AMCuD) for targeted PD‐L1 degradation and chemo‐dynamically enhanced cuproptosis to synergically elicit robust immunotherapy against the triple‐negative breast cancer (TNBC) growth, recurrence and metastasis.
Ningxi Li, Honglin Huang, Qianyi Zeng, Li Zeng, Ziman Yang, Jinyang Shen, Shun Li, Hong Yang, Yiyao Liu, Chunhui Wu   +9 more
wiley   +1 more source

Diagnostic Challenges and Mimicking Disorders of Wilson’s Disease: A Comprehensive Review [PDF]

Caspian Journal of Internal Medicine
Wilson disease is classically defined as an autosomal recessive disorder of copper metabolism that leads to neurological and hepatic dysfunction. It is one of the most prevalent genetic liver disorders caused by pathogenic mutations in the ATP7B gene ...
Seyyedsaleh Hashemi, Aida Gholoobi, Karim Naghipoor, Tayebeh Hamzehloei   +3 more
doaj  

Generation of two induced pluripotent stem cell lines from peripheral blood mononuclear cells of a patient with Wilson’s disease

Stem Cell Research, 2020
Wilson’s disease is an inherited disorder associated with copper accumulation in the liver, brain and other vital organs. Wilson’s disease is caused by mutations in the ATP7B gene. Over 300 mutations of ATP7B have been described.
A.A. Malakhova, E.V. Grigor'eva, O.Yu. Vasilyeva, D.I. Zhigalina, N.A. Skryabin, A.A. Sivtcev, N.A. Kolesnikov, A.O. Bueverov, I.N. Lebedev, P.O. Bogomolov, S.M. Zakian   +10 more
doaj   +1 more source

Nail Disorders in Systemic Conditions

JEADV Clinical Practice, EarlyView.
ABSTRACT Nail findings in children can be indicative of an underlying systemic disease. Many of these findings are seen in multiple entities and are not specific to one disease. The importance of specifically examining for these nail changes cannot be overstated.
Jane Sanders Bellet
wiley   +1 more source