Kaler SG - Search Results

1

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

Kaler SG. Kaler SG. Nat Rev Neurol. 2011 Jan;7(1):15-29. doi: 10.1038/nrneurol.2010.180. Nat Rev Neurol. 2011. PMID: 21221114 Free PMC article. Review.

2

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.

3

Copper Regulates Maturation and Expression of an MITF:Tryptase Axis in Mast Cells.

Hu Frisk JM, Kjellén L, Kaler SG, Pejler G, Öhrvik H. Hu Frisk JM, et al. Among authors: kaler sg. J Immunol. 2017 Dec 15;199(12):4132-4141. doi: 10.4049/jimmunol.1700786. Epub 2017 Nov 10. J Immunol. 2017. PMID: 29127151 Free PMC article.

4

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. Among authors: kaler sg. 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.

5

Catecholamine metabolites affected by the copper-dependent enzyme dopamine-beta-hydroxylase provide sensitive biomarkers for early diagnosis of menkes disease and viral-mediated ATP7A gene therapy.

Kaler SG, Holmes CS. Kaler SG, et al. Adv Pharmacol. 2013;68:223-33. doi: 10.1016/B978-0-12-411512-5.00011-7. Adv Pharmacol. 2013. PMID: 24054147 Free PMC article. Review.

6

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: kaler sg. 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.

7

The Activity of Menkes Disease Protein ATP7A Is Essential for Redox Balance in Mitochondria.

Bhattacharjee A, Yang H, Duffy M, Robinson E, Conrad-Antoville A, Lu YW, Capps T, Braiterman L, Wolfgang M, Murphy MP, Yi L, Kaler SG, Lutsenko S, Ralle M. Bhattacharjee A, et al. Among authors: kaler sg. J Biol Chem. 2016 Aug 5;291(32):16644-58. doi: 10.1074/jbc.M116.727248. Epub 2016 May 16. J Biol Chem. 2016. PMID: 27226607 Free PMC article.

8

Persistent lethargy, hypothermia, and failure to thrive in a neonate.

Kotzbauer D, Kaler SG. Kotzbauer D, et al. Among authors: kaler sg. Hosp Pediatr. 2015 Apr;5(4):234-7. doi: 10.1542/hpeds.2014-0118. Hosp Pediatr. 2015. PMID: 25832979 Free PMC article. No abstract available.

9

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: kaler sg. JIMD Rep. 2015;20:57-63. doi: 10.1007/8904_2014_391. Epub 2015 Feb 1. JIMD Rep. 2015. PMID: 25638460 Free PMC article.

10

Inborn errors of copper metabolism.

Kaler SG. Kaler SG. Handb Clin Neurol. 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. Handb Clin Neurol. 2013. PMID: 23622398 Free PMC article. Review.

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