Cargando…

Genetic, metabolic and cellular factors influencing intracellular localization of the Wilson disease protein, ATP7B

Detalles Bibliográficos
Autores principales:	Gupta, Arnab, Bhattacharjee, Ashima, Hasan, Nesrin, Braiterman, Lita, Lutsenko, Svetlana, Hubbard, Ann L
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Poster Presentation
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4045002/ http://dx.doi.org/10.1186/1755-8166-7-S1-P68

Ejemplares similares

The Activity of Menkes Disease Protein ATP7A Is Essential for Redox Balance in Mitochondria
por: Bhattacharjee, Ashima, et al.
Publicado: (2016)

Live-cell imaging of compartment-specific redox changes in menkes disease fibroblasts
por: Bhattacharjee, Ashima, et al.
Publicado: (2014)

Analysis of Wilson disease mutations revealed that interactions between different ATP7B mutants modify their properties
por: Roy, Shubhrajit, et al.
Publicado: (2020)

Systemic deletion of Atp7b modifies the hepatocytes’ response to copper overload in the mouse models of Wilson disease
por: Muchenditsi, Abigael, et al.
Publicado: (2021)

Heterogeneous nuclear ribonucleoprotein hnRNPA2/B1 regulates the abundance of the copper-transporter ATP7A in an isoform-dependent manner
por: McCann, Courtney J., et al.
Publicado: (2022)

Wilson Disease: Update on Pathophysiology and Treatment
por: Dev, Som, et al.
Publicado: (2022)

Identification of p38 MAPK and JNK as new targets for correction of Wilson disease‐causing ATP7B mutants
por: Chesi, Giancarlo, et al.
Publicado: (2016)

Structure of the Wilson disease copper transporter ATP7B
por: Bitter, Ryan M., et al.
Publicado: (2022)

A Novel Mutation of ATP7B Gene in a Case of Wilson Disease
por: Kahraman, Cigdem Yuce, et al.
Publicado: (2021)

Evolution of Copper Transporting ATPases in Eukaryotic Organisms
por: Gupta, Arnab, et al.
Publicado: (2012)

Intracellular ATP Concentration and Implication for Cellular Evolution
por: Greiner, Jack V., et al.
Publicado: (2021)

Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease
por: Zali, Narges, et al.
Publicado: (2011)

Functional Characterization of Novel ATP7B Variants for Diagnosis of Wilson Disease
por: Guttmann, Sarah, et al.
Publicado: (2018)

Wilson France: a national database for Wilson’s disease
por: Trocello, Jean-Marc
Publicado: (2010)

Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease
por: Qian, Zhiling, et al.
Publicado: (2019)

Genetic analysis of ATP7B in 102 south Indian families with Wilson disease
por: Singh, Nivedita, et al.
Publicado: (2019)

A case of Wilson disease with the ATP7B mutation presenting movement disorders
por: Van Nguyen, Huong, et al.
Publicado: (2021)

Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam
por: Huong, Nguyen Thi Mai, et al.
Publicado: (2022)

Analysis of Wilson disease mutations in copper binding domain of ATP7B gene
por: Gul, Bushra, et al.
Publicado: (2022)

New ATP7B Gene Mutation in a Brazilian Patient with Wilson Disease
por: Barros de Oliveira Sá, Marcus Villander, et al.
Publicado: (2022)

The Role of Copper Chaperone Atox1 in Coupling Redox Homeostasis to Intracellular Copper Distribution
por: Hatori, Yuta, et al.
Publicado: (2016)

Oxysterol misbalance critically contributes to Wilson disease pathogenesis
por: Dev, Som, et al.
Publicado: (2022)

Wilson Disease Protein ATP7B Utilizes Lysosomal Exocytosis to Maintain Copper Homeostasis
por: Polishchuk, Elena V., et al.
Publicado: (2014)

Intragenic Deletions in ATP7B as an Unusual Molecular Genetics Mechanism of Wilson’s Disease Pathogenesis
por: Todorov, Theodor, et al.
Publicado: (2016)

Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease
por: Huong, Nguyen Thi Mai, et al.
Publicado: (2018)

Genetic variation spectrum in ATP7B gene identified in Latvian patients with Wilson disease
por: Zarina, Agnese, et al.
Publicado: (2017)

Identification of mutations in the ATP7B gene in 14 Wilson disease children: Case series
por: Wang, Jiuxiang, et al.
Publicado: (2021)

Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease
por: Merle, Uta, et al.
Publicado: (2010)

Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant
por: Koboldt, Daniel C., et al.
Publicado: (2020)

Investigation of the Wilson gene ATP7B transcriptional start site and the effect of core promoter alterations
por: Höflich, Clemens, et al.
Publicado: (2021)

Mutation analysis of the ATP7B gene and genotype–phenotype correlation in Chinese patients with Wilson disease
por: Li, Mingming, et al.
Publicado: (2021)

Laboratory and clinical evaluation of a microarray for the detection of ATP7B mutations in Wilson disease in China
por: Jia, Siyu, et al.
Publicado: (2022)

Copper Capture in a Thioether-Functionalized Porous Polymer Applied to the Detection of Wilson’s Disease
por: Lee, Sumin, et al.
Publicado: (2016)

Low-density oligonucleotide microarrays - A major step in Wilson's disease diagnosis
por: Gupta, Arnab
Publicado: (2015)

Multiplex ARMS PCR to Detect 8 Common Mutations of ATP7B Gene in Patients With Wilson Disease
por: Dastsooz, Hassan, et al.
Publicado: (2013)

A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease
por: Woimant, France, et al.
Publicado: (2020)

p.P1379S, a benign variant with reduced ATP7B protein level in Wilson Disease
por: Yi, Fan, et al.
Publicado: (2020)

Prevalent Pathogenic Variants of ATP7B in Chinese Patients with Wilson’s Disease: Geographical Distribution and Founder Effect
por: Yang, Guo-Min, et al.
Publicado: (2021)

Full-length ATP7B reconstituted through protein trans-splicing corrects Wilson disease in mice
por: Padula, Agnese, et al.
Publicado: (2022)

A Novel Mutation in the ATP7B Gene: A Rare Manifestation of Wilson Disease With Liver Failure
por: Awan, Rehmat Ullah, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_u9m0uh8gh3qkoh8bku1bh3hfta