Yi L - Search Results

1

Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter.

Batzios S, Tal G, DiStasio AT, Peng Y, Charalambous C, Nicolaides P, Kamsteeg EJ, Korman SH, Mandel H, Steinbach PJ, Yi L, Fair SR, Hester ME, Drousiotou A, Kaler SG. Batzios S, et al. Among authors: yi l. Hum Mol Genet. 2022 Dec 16;31(24):4121-4130. doi: 10.1093/hmg/ddac156. Hum Mol Genet. 2022. PMID: 35913762 Free PMC article.

2

Direct interactions of adaptor protein complexes 1 and 2 with the copper transporter ATP7A mediate its anterograde and retrograde trafficking.

Yi L, Kaler SG. Yi L, et al. Hum Mol Genet. 2015 May 1;24(9):2411-25. doi: 10.1093/hmg/ddv002. Epub 2015 Jan 7. Hum Mol Genet. 2015. PMID: 25574028 Free PMC article.

3

Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy.

Yi L, Donsante A, Kennerson ML, Mercer JF, Garbern JY, Kaler SG. Yi L, et al. Hum Mol Genet. 2012 Apr 15;21(8):1794-807. doi: 10.1093/hmg/ddr612. Epub 2011 Dec 30. Hum Mol Genet. 2012. PMID: 22210628 Free PMC article.

4

ATP7A trafficking and mechanisms underlying the distal motor neuropathy induced by mutations in ATP7A.

Yi L, Kaler S. Yi L, et al. Ann N Y Acad Sci. 2014 May;1314(1):49-54. doi: 10.1111/nyas.12427. Epub 2014 Apr 22. Ann N Y Acad Sci. 2014. PMID: 24754450 Free PMC article.

5

Interaction between the AAA ATPase p97/VCP and a concealed UBX domain in the copper transporter ATP7A is associated with motor neuron degeneration.

Yi L, Kaler SG. Yi L, et al. J Biol Chem. 2018 May 18;293(20):7606-7617. doi: 10.1074/jbc.RA117.000686. Epub 2018 Mar 29. J Biol Chem. 2018. PMID: 29599289 Free PMC article.

6

Targeted next generation sequencing for newborn screening of Menkes disease.

Parad RB, Kaler SG, Mauceli E, Sokolsky T, Yi L, Bhattacharjee A. Parad RB, et al. Among authors: yi l. Mol Genet Metab Rep. 2020 Jul 21;24:100625. doi: 10.1016/j.ymgmr.2020.100625. eCollection 2020 Sep. Mol Genet Metab Rep. 2020. PMID: 32714836 Free PMC article.

7

Cerebrospinal Fluid-Directed rAAV9-rsATP7A Plus Subcutaneous Copper Histidinate Advance Survival and Outcomes in a Menkes Disease Mouse Model.

Haddad MR, Choi EY, Zerfas PM, Yi L, Martinelli D, Sullivan P, Goldstein DS, Centeno JA, Brinster LR, Ralle M, Kaler SG. Haddad MR, et al. Among authors: yi l. Mol Ther Methods Clin Dev. 2018 Jul 9;10:165-178. doi: 10.1016/j.omtm.2018.07.002. eCollection 2018 Sep 21. Mol Ther Methods Clin Dev. 2018. PMID: 30090842 Free PMC article.

8

ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model.

Donsante A, Yi L, Zerfas PM, Brinster LR, Sullivan P, Goldstein DS, Prohaska J, Centeno JA, Rushing E, Kaler SG. Donsante A, et al. Among authors: yi l. Mol Ther. 2011 Dec;19(12):2114-23. doi: 10.1038/mt.2011.143. Epub 2011 Aug 30. Mol Ther. 2011. PMID: 21878905 Free PMC article.

9

Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.

Huppke P, Brendel C, Korenke GC, Marquardt I, Donsante A, Yi L, Hicks JD, Steinbach PJ, Wilson C, Elpeleg O, Møller LB, Christodoulou J, Kaler SG, Gärtner J. Huppke P, et al. Among authors: yi l. Hum Mutat. 2012 Aug;33(8):1207-15. doi: 10.1002/humu.22099. Epub 2012 May 16. Hum Mutat. 2012. PMID: 22508683 Free PMC article.

10

Tandem Duplication of Exons 1-7 Neither Impairs ATP7A Expression Nor Causes a Menkes Disease Phenotype.

Choi EY, Patel K, Haddad MR, Yi L, Holmes C, Goldstein DS, Dutra A, Pak E, Kaler SG. Choi EY, et al. Among authors: yi l. JIMD Rep. 2015;20:57-63. doi: 10.1007/8904_2014_391. Epub 2015 Feb 1. JIMD Rep. 2015. PMID: 25638460 Free PMC article.

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