Roncador A - Search Results

1

S250F variant associated with aromatic amino acid decarboxylase deficiency: molecular defects and intracellular rescue by pyridoxine.

Montioli R, Oppici E, Cellini B, Roncador A, Dindo M, Voltattorni CB. Montioli R, et al. Among authors: roncador a. Hum Mol Genet. 2013 Apr 15;22(8):1615-24. doi: 10.1093/hmg/ddt011. Epub 2013 Jan 15. Hum Mol Genet. 2013. PMID: 23321058

2

Gly161 mutations associated with Primary Hyperoxaluria Type I induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase.

Oppici E, Roncador A, Montioli R, Bianconi S, Cellini B. Oppici E, et al. Among authors: roncador a. Biochim Biophys Acta. 2013 Dec;1832(12):2277-88. doi: 10.1016/j.bbadis.2013.09.002. Epub 2013 Sep 17. Biochim Biophys Acta. 2013. PMID: 24055001 Free article.

3

S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation.

Montioli R, Roncador A, Oppici E, Mandrile G, Giachino DF, Cellini B, Borri Voltattorni C. Montioli R, et al. Among authors: roncador a. Hum Mol Genet. 2014 Nov 15;23(22):5998-6007. doi: 10.1093/hmg/ddu329. Epub 2014 Jul 2. Hum Mol Genet. 2014. PMID: 24990153 Free PMC article.

4

Misfolding caused by the pathogenic mutation G47R on the minor allele of alanine:glyoxylate aminotransferase and chaperoning activity of pyridoxine.

Montioli R, Oppici E, Dindo M, Roncador A, Gotte G, Cellini B, Borri Voltattorni C. Montioli R, et al. Among authors: roncador a. Biochim Biophys Acta. 2015 Oct;1854(10 Pt A):1280-9. doi: 10.1016/j.bbapap.2015.07.002. Epub 2015 Jul 3. Biochim Biophys Acta. 2015. PMID: 26149463

5

Allele-specific characterization of alanine: glyoxylate aminotransferase variants associated with primary hyperoxaluria.

Lage MD, Pittman AM, Roncador A, Cellini B, Tucker CL. Lage MD, et al. Among authors: roncador a. PLoS One. 2014 Apr 9;9(4):e94338. doi: 10.1371/journal.pone.0094338. eCollection 2014. PLoS One. 2014. PMID: 24718375 Free PMC article.

6

Use of polymer conjugates for the intraperoxisomal delivery of engineered human alanine:glyoxylate aminotransferase as a protein therapy for primary hyperoxaluria type I.

Roncador A, Oppici E, Talelli M, Pariente AN, Donini M, Dusi S, Voltattorni CB, Vicent MJ, Cellini B. Roncador A, et al. Nanomedicine. 2017 Apr;13(3):897-907. doi: 10.1016/j.nano.2016.12.011. Epub 2016 Dec 18. Nanomedicine. 2017. PMID: 27993722

7

Rapid profiling of disease alleles using a tunable reporter of protein misfolding.

Pittman AM, Lage MD, Poltoratsky V, Vrana JD, Paiardini A, Roncador A, Cellini B, Hughes RM, Tucker CL. Pittman AM, et al. Among authors: roncador a. Genetics. 2012 Nov;192(3):831-42. doi: 10.1534/genetics.112.143750. Epub 2012 Aug 24. Genetics. 2012. PMID: 22923379 Free PMC article.

8

K644E/M FGFR3 mutants activate Erk1/2 from the endoplasmic reticulum through FRS2 alpha and PLC gamma-independent pathways.

Lievens PM, Roncador A, Liboi E. Lievens PM, et al. Among authors: roncador a. J Mol Biol. 2006 Mar 31;357(3):783-92. doi: 10.1016/j.jmb.2006.01.058. Epub 2006 Feb 3. J Mol Biol. 2006. PMID: 16476447

9

Ankyrin-G induces nucleoporin Nup358 to associate with the axon initial segment of neurons.

Khalaf B, Roncador A, Pischedda F, Casini A, Thomas S, Piccoli G, Kiebler M, Macchi P. Khalaf B, et al. Among authors: roncador a. J Cell Sci. 2019 Sep 26;132(18):jcs222802. doi: 10.1242/jcs.222802. J Cell Sci. 2019. PMID: 31427429

10

Functionalization of TiO₂ sol-gel derived films for cell confinement.

Pasquardini L, Roncador A, Prusakova V, Vanzetti L, Potrich C, Lunelli L, Pederzolli C, Iannotta S, Macchi P, Dirè S. Pasquardini L, et al. Among authors: roncador a. Colloids Surf B Biointerfaces. 2021 Aug;204:111787. doi: 10.1016/j.colsurfb.2021.111787. Epub 2021 Apr 25. Colloids Surf B Biointerfaces. 2021. PMID: 33962371

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