Literature DB >> 16283886

COMMD1 (MURR1) as a candidate in patients with copper storage disease of undefined etiology.

V A Coronado, J A Bonneville, H Nazer, E A Roberts, D W Cox.   

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Year:  2005        PMID： 16283886     DOI： 10.1111/j.1399-0004.2005.00524.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  11 in total

1.  Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.

Authors:  Prim de Bie; Bart van de Sluis; Ezra Burstein; Peter V E van de Berghe; Patricia Muller; Ruud Berger; Jonathan D Gitlin; Cisca Wijmenga; Leo W J Klomp
Journal:  Gastroenterology       Date:  2007-07-25       Impact factor: 22.682

2.  Liver structures of a patient with idiopathic copper toxicosis.

Authors:  Hisao Hayashi; Tsutomu Shinohara; Keisuke Goto; Yoshikazu Fujita; Yu Murakami; Ai Hattori; Yasuaki Tatsumi; Atsumi Shimizu; Takashi Ichiki
Journal:  Med Mol Morphol       Date:  2012-06-21       Impact factor: 2.309

3.  COMMD1 (copper metabolism MURR1 domain-containing protein 1) regulates Cullin RING ligases by preventing CAND1 (Cullin-associated Nedd8-dissociated protein 1) binding.

Authors:  Xicheng Mao; Nathan Gluck; Baozhi Chen; Petro Starokadomskyy; Haiying Li; Gabriel N Maine; Ezra Burstein
Journal:  J Biol Chem       Date:  2011-07-21       Impact factor: 5.157

4.  Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease.

Authors:  Karl Heinz Weiss; Heiko Runz; Barbara Noe; Daniel Nils Gotthardt; Uta Merle; Peter Ferenci; Wolfgang Stremmel; Joachim Füllekrug
Journal:  J Inherit Metab Dis       Date:  2010-06-02       Impact factor: 4.982

Review 5.  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

6.  A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson Disease patient.

Authors:  Arnab Gupta; Ishita Chattopadhyay; Shashwata Mukherjee; Mainak Sengupta; Shyamal K Das; Kunal Ray
Journal:  Behav Brain Funct       Date:  2010-06-15       Impact factor: 3.759

Review 7.  COMMD proteins: COMMing to the scene.

Authors:  G N Maine; E Burstein
Journal:  Cell Mol Life Sci       Date:  2007-08       Impact factor: 9.261

8.  Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations.

Authors:  Xin-Hua Li; Yi Lu; Yun Ling; Qing-Chun Fu; Jie Xu; Guo-Qing Zang; Feng Zhou; Yu De-Min; Yue Han; Dong-Hua Zhang; Qi-Ming Gong; Zhi-Meng Lu; Xiao-Fei Kong; Jian-She Wang; Xin-Xin Zhang
Journal:  BMC Med Genet       Date:  2011-01-11       Impact factor: 2.103

9.  Liver-specific Commd1 knockout mice are susceptible to hepatic copper accumulation.

Authors:  Willianne I M Vonk; Paulina Bartuzi; Prim de Bie; Niels Kloosterhuis; Catharina G K Wichers; Ruud Berger; Susan Haywood; Leo W J Klomp; Cisca Wijmenga; Bart van de Sluis
Journal:  PLoS One       Date:  2011-12-22       Impact factor: 3.240

Review 10.  Canine models of copper toxicosis for understanding mammalian copper metabolism.

Authors:  Hille Fieten; Peter A J Leegwater; Adrian L Watson; Jan Rothuizen
Journal:  Mamm Genome       Date:  2011-12-07       Impact factor: 2.957
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