𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B

✍ Scribed by Leiah M. Luoma; Taha M.M. Deeb; Georgina Macintyre; Diane W. Cox


Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
473 KB
Volume
31
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Sequence variation database for the Wils
✍ Susan M. Kenney; Diane W. Cox πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 182 KB πŸ‘ 1 views

Communicated by A. Jamie Cuticchia Wilson disease (WND) is a disorder of copper transport resulting in copper accumulation in liver, kidney, and brain. This recessive disorder expresses variable clinical symptoms affecting liver, brain, and/or kidney. The age of onset of symptoms varies from 3 to al

Sequence variation in the ATP-binding do
✍ Gloria Hsi; Lara M. Cullen; Georgina Macintyre; Matthew M. Chen; D. Moira Glerum πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 457 KB πŸ‘ 1 views

ATP7B is a copper transporting P-type ATPase defective in the autosomal recessive copper storage disorder, Wilson disease (WND). Functional assessment of variants helps to distinguish normal from disease-causing variants and provides information on important amino acid residues. A total of 11 missen

Mutation analysis and characterization o
✍ Lei Wan; Chang-Hai Tsai; Chin-Moo Hsu; Chin-Chang Huang; Chih-Chao Yang; Chiu-Ch πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 443 KB πŸ‘ 1 views

Wilson disease is a copper metabolism disorder caused by mutations in ATP7B, a coppertransporting adenosine triphosphatase. A molecular diagnosis was performed on 135 patients with Wilson disease in Taiwan. We identified 36 different mutations, eight of which were novel: five missense mutations (Ser

Mutational analysis of ATP7B and genotyp
✍ Toshihide Okada; Yuta Shiono; Hisao Hayashi; Hiro Satoh; Takeshi Sawada; Ayako S πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 286 KB πŸ‘ 2 views

The gene ATP7B responsible for Wilson's disease (WD) produces a protein which is predicted to be a copper-binding P-type ATPase, homologous to the Menkes disease gene (ATP7A). Various mutations of ATP7B have been identified. This study aimed to detect disease-causing mutations, to clarify their freq