Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase.

× No keyword cloud information.

15 in total

Review 1. ATP7A-related copper transport diseases-emerging concepts and future trends.

Authors: Stephen G Kaler
Journal: Nat Rev Neurol Date: 2011-01 Impact factor: 42.937

Review 2. Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease.

Authors: Stephanie Zlatic; Heather Skye Comstra; Avanti Gokhale; Michael J Petris; Victor Faundez
Journal: Neurobiol Dis Date: 2015-01-10 Impact factor: 5.996

Review 3. The Endolysosomal System and Proteostasis: From Development to Degeneration.

Authors: Bettina Winckler; Victor Faundez; Sandra Maday; Qian Cai; Cláudia Guimas Almeida; Huaye Zhang
Journal: J Neurosci Date: 2018-10-31 Impact factor: 6.167

4. Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites.

Authors: Marianne Paulsen; Connie Lund; Zarqa Akram; Jakob R Winther; Nina Horn; Lisbeth Birk Møller
Journal: Am J Hum Genet Date: 2006-06-05 Impact factor: 11.025

5. Safety of intracerebroventricular copper histidine in adult rats.

Authors: Kristen E Lem; Lauren R Brinster; Olga Tjurmina; Martin Lizak; Simina Lal; Jose A Centeno; Po-Ching Liu; Sarah C Godwin; Stephen G Kaler
Journal: Mol Genet Metab Date: 2007-03-01 Impact factor: 4.797

Review 6. Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.

Authors: P de Bie; P Muller; C Wijmenga; L W J Klomp
Journal: J Med Genet Date: 2007-08-23 Impact factor: 6.318

7. Participation of ATP7A in macrophage mediated oxidation of LDL.

Authors: Zhenyu Qin; Eddy S Konaniah; Bonnie Neltner; Raphael A Nemenoff; David Y Hui; Neal L Weintraub
Journal: J Lipid Res Date: 2009-11-23 Impact factor: 5.922

8. Phenotypic diversity of Menkes disease in mottled mice is associated with defects in localisation and trafficking of the ATP7A protein.

Authors: Byung-Eun Kim; Michael J Petris
Journal: J Med Genet Date: 2007-05-04 Impact factor: 6.318

9. Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients.

Authors: Ja Hye Kim; Beom Hee Lee; Yoo-Mi Kim; Jin-Ho Choi; Gu-Hwan Kim; Chong Kun Cheon; Han-Wook Yoo
Journal: Metab Brain Dis Date: 2014-06-13 Impact factor: 3.584

10. Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R.

Authors: Jingrong Tang; Anthony Donsante; Vishal Desai; Nicholas Patronas; Stephen G Kaler
Journal: Mol Genet Metab Date: 2008-08-26 Impact factor: 4.797