Literature DB >> 10476363

Menkes disease and Wilson disease: two sides of the same copper coin. Part I: Menkes disease.

J H Menkes1.   

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Year:  1999        PMID： 10476363     DOI： 10.1016/s1090-3798(99)90048-x

Source DB:  PubMed          Journal:  Eur J Paediatr Neurol        ISSN： 1090-3798            Impact factor:   3.140


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  9 in total

1.  Mutational analysis of ATP7B in Chinese Wilson disease patients.

Authors:  Rui Hua; Fang Hua; Yonggeng Jiao; Yu Pan; Xu Yang; Shanshan Peng; Junqi Niu
Journal:  Am J Transl Res       Date:  2016-06-15       Impact factor: 4.060

Review 2.  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

3.  Golgi-Dependent Copper Homeostasis Sustains Synaptic Development and Mitochondrial Content.

Authors:  Cortnie Hartwig; Gretchen Macías Méndez; Shatabdi Bhattacharjee; Alysia D Vrailas-Mortimer; Stephanie A Zlatic; Amanda A H Freeman; Avanti Gokhale; Mafalda Concilli; Erica Werner; Christie Sapp Savas; Samantha Rudin-Rush; Laura Palmer; Nicole Shearing; Lindsey Margewich; Jacob McArthy; Savanah Taylor; Blaine Roberts; Vladimir Lupashin; Roman S Polishchuk; Daniel N Cox; Ramon A Jorquera; Victor Faundez
Journal:  J Neurosci       Date:  2020-11-18       Impact factor: 6.167

4.  Copper activation of NF-kappaB signaling in HepG2 cells.

Authors:  Matthew K McElwee; Min Ok Song; Jonathan H Freedman
Journal:  J Mol Biol       Date:  2009-09-08       Impact factor: 5.469

5.  The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation.

Authors:  Gregorio León-García; Alfredo Santana; Nicolás Villegas-Sepúlveda; Concepción Pérez-González; José M Henrríquez-Esquíroz; Carlota de León-García; Carlos Wong; Isabel Baeza
Journal:  BMC Pediatr       Date:  2012-09-19       Impact factor: 2.125

Review 6.  Update on the clinical management of Wilson's disease.

Authors:  Peter Hedera
Journal:  Appl Clin Genet       Date:  2017-01-13

7.  The interactome of the copper transporter ATP7A belongs to a network of neurodevelopmental and neurodegeneration factors.

Authors:  Heather S Comstra; Jacob McArthy; Samantha Rudin-Rush; Cortnie Hartwig; Avanti Gokhale; Stephanie A Zlatic; Jessica B Blackburn; Erica Werner; Michael Petris; Priya D'Souza; Parinya Panuwet; Dana Boyd Barr; Vladimir Lupashin; Alysia Vrailas-Mortimer; Victor Faundez
Journal:  Elife       Date:  2017-03-29       Impact factor: 8.140

Review 8.  Rare Genetic Diseases: Nature's Experiments on Human Development.

Authors:  Chelsea E Lee; Kaela S Singleton; Melissa Wallin; Victor Faundez
Journal:  iScience       Date:  2020-05-01

9.  The small molecule Mek1/2 inhibitor U0126 disrupts the chordamesoderm to notochord transition in zebrafish.

Authors:  Thomas A Hawkins; Florencia Cavodeassi; Ferenc Erdélyi; Gábor Szabó; Zsolt Lele
Journal:  BMC Dev Biol       Date:  2008-04-17       Impact factor: 1.978
  9 in total

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