Velayos-Baeza A - Search Results

1

Human VPS13A is associated with multiple organelles and influences mitochondrial morphology and lipid droplet motility.

Yeshaw WM, van der Zwaag M, Pinto F, Lahaye LL, Faber AI, Gómez-Sánchez R, Dolga AM, Poland C, Monaco AP, van IJzendoorn SC, Grzeschik NA, Velayos-Baeza A, Sibon OC. Yeshaw WM, et al. Among authors: velayos baeza a. Elife. 2019 Feb 11;8:e43561. doi: 10.7554/eLife.43561. Elife. 2019. PMID: 30741634 Free PMC article.

2

Chorein detection for the diagnosis of chorea-acanthocytosis.

Dobson-Stone C, Velayos-Baeza A, Filippone LA, Westbury S, Storch A, Erdmann T, Wroe SJ, Leenders KL, Lang AE, Dotti MT, Federico A, Mohiddin SA, Fananapazir L, Daniels G, Danek A, Monaco AP. Dobson-Stone C, et al. Ann Neurol. 2004 Aug;56(2):299-302. doi: 10.1002/ana.20200. Ann Neurol. 2004. PMID: 15293285

3

Analysis of the human VPS13 gene family.

Velayos-Baeza A, Vettori A, Copley RR, Dobson-Stone C, Monaco AP. Velayos-Baeza A, et al. Genomics. 2004 Sep;84(3):536-49. doi: 10.1016/j.ygeno.2004.04.012. Genomics. 2004. PMID: 15498460

4

Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis.

Dobson-Stone C, Velayos-Baeza A, Jansen A, Andermann F, Dubeau F, Robert F, Summers A, Lang AE, Chouinard S, Danek A, Andermann E, Monaco AP. Dobson-Stone C, et al. Neurogenetics. 2005 Sep;6(3):151-8. doi: 10.1007/s10048-005-0220-9. Epub 2005 Sep 28. Neurogenetics. 2005. PMID: 15918062

5

Alternative splicing in the dyslexia-associated gene KIAA0319.

Velayos-Baeza A, Toma C, da Roza S, Paracchini S, Monaco AP. Velayos-Baeza A, et al. Mamm Genome. 2007 Sep;18(9):627-34. doi: 10.1007/s00335-007-9051-3. Epub 2007 Sep 11. Mamm Genome. 2007. PMID: 17846832

6

The dyslexia-associated gene KIAA0319 encodes highly N- and O-glycosylated plasma membrane and secreted isoforms.

Velayos-Baeza A, Toma C, Paracchini S, Monaco AP. Velayos-Baeza A, et al. Hum Mol Genet. 2008 Mar 15;17(6):859-71. doi: 10.1093/hmg/ddm358. Epub 2007 Dec 6. Hum Mol Genet. 2008. PMID: 18063668

7

The dyslexia-associated protein KIAA0319 interacts with adaptor protein 2 and follows the classical clathrin-mediated endocytosis pathway.

Levecque C, Velayos-Baeza A, Holloway ZG, Monaco AP. Levecque C, et al. Am J Physiol Cell Physiol. 2009 Jul;297(1):C160-8. doi: 10.1152/ajpcell.00630.2008. Epub 2009 May 6. Am J Physiol Cell Physiol. 2009. PMID: 19419997 Free PMC article.

8

The dyslexia-associated KIAA0319 protein undergoes proteolytic processing with {gamma}-secretase-independent intramembrane cleavage.

Velayos-Baeza A, Levecque C, Kobayashi K, Holloway ZG, Monaco AP. Velayos-Baeza A, et al. J Biol Chem. 2010 Dec 17;285(51):40148-62. doi: 10.1074/jbc.M110.145961. Epub 2010 Oct 13. J Biol Chem. 2010. PMID: 20943657 Free PMC article.

9

Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindred.

Velayos-Baeza A, Holinski-Feder E, Neitzel B, Bader B, Critchley EM, Monaco AP, Danek A, Walker RH. Velayos-Baeza A, et al. Arch Neurol. 2011 Oct;68(10):1330-3. doi: 10.1001/archneurol.2011.239. Arch Neurol. 2011. PMID: 21987550 Free PMC article.

10

Trafficking of the Menkes copper transporter ATP7A is regulated by clathrin-, AP-2-, AP-1-, and Rab22-dependent steps.

Holloway ZG, Velayos-Baeza A, Howell GJ, Levecque C, Ponnambalam S, Sztul E, Monaco AP. Holloway ZG, et al. Mol Biol Cell. 2013 Jun;24(11):1735-48, S1-8. doi: 10.1091/mbc.E12-08-0625. Epub 2013 Apr 17. Mol Biol Cell. 2013. PMID: 23596324 Free PMC article.

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