Pindolia K - Search Results

1

Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration.

Pindolia K, Chen J, Cardwell C, Cui X, Chopp M, Wolf B. Pindolia K, et al. Neurobiol Dis. 2012 Sep;47(3):428-35. doi: 10.1016/j.nbd.2012.04.016. Epub 2012 May 8. Neurobiol Dis. 2012. PMID: 22579707 Free PMC article.

2

Analysis of mutations causing biotinidase deficiency.

Pindolia K, Jordan M, Wolf B. Pindolia K, et al. Hum Mutat. 2010 Sep;31(9):983-91. doi: 10.1002/humu.21303. Hum Mutat. 2010. PMID: 20556795

3

Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.

Pindolia K, Jordan M, Guo C, Matthews N, Mock DM, Strovel E, Blitzer M, Wolf B. Pindolia K, et al. Mol Genet Metab. 2011 Feb;102(2):161-9. doi: 10.1016/j.ymgme.2010.10.005. Epub 2010 Oct 13. Mol Genet Metab. 2011. PMID: 21051254 Free PMC article.

4

Characterization and functional analysis of cellular immunity in mice with biotinidase deficiency.

Pindolia K, Li H, Cardwell C, Wolf B. Pindolia K, et al. Mol Genet Metab. 2014 May;112(1):49-56. doi: 10.1016/j.ymgme.2014.02.008. Epub 2014 Feb 21. Mol Genet Metab. 2014. PMID: 24630269

5

Developmental window of sensorineural deafness in biotinidase-deficient mice.

Maheras KJ, Pindolia K, Wolf B, Gow A. Maheras KJ, et al. Among authors: pindolia k. J Inherit Metab Dis. 2017 Sep;40(5):733-744. doi: 10.1007/s10545-017-0049-z. Epub 2017 May 17. J Inherit Metab Dis. 2017. PMID: 28516283 Free PMC article.

6

Three dimensional structure of human biotinidase: computer modeling and functional correlations.

Pindolia K, Jensen K, Wolf B. Pindolia K, et al. Mol Genet Metab. 2007 Sep-Oct;92(1-2):13-22. doi: 10.1016/j.ymgme.2007.04.013. Epub 2007 Jul 12. Mol Genet Metab. 2007. PMID: 17629531

7

Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood.

Bottin L, Prud'hon S, Guey S, Giannesini C, Wolf B, Pindolia K, Stankoff B. Bottin L, et al. Among authors: pindolia k. Mult Scler. 2015 Oct;21(12):1604-7. doi: 10.1177/1352458515596457. Epub 2015 Jul 22. Mult Scler. 2015. PMID: 26203071

8

Differential gene expression during early development in brains of wildtype and biotinidase-deficient mice.

Brigolin C, McKenty N, Pindolia K, Wolf B. Brigolin C, et al. Among authors: pindolia k. Mol Genet Metab Rep. 2016 Oct 8;9:35-41. doi: 10.1016/j.ymgmr.2016.09.007. eCollection 2016 Dec. Mol Genet Metab Rep. 2016. PMID: 27752475 Free PMC article.

9

First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children.

Senanayake DN, Jasinge EA, Pindolia K, Wanigasinghe J, Monaghan K, Suchy SF, Wei S, Jaysena S, Wolf B. Senanayake DN, et al. Among authors: pindolia k. Mol Genet Metab Rep. 2015 Feb 7;2:81-84. doi: 10.1016/j.ymgmr.2015.01.005. eCollection 2015 Mar. Mol Genet Metab Rep. 2015. PMID: 28649532 Free PMC article.

10

Biotinidase knockout mice show cellular energy deficit and altered carbon metabolism gene expression similar to that of nutritional biotin deprivation: clues for the pathogenesis in the human inherited disorder.

Hernández-Vázquez A, Wolf B, Pindolia K, Ortega-Cuellar D, Hernández-González R, Heredia-Antúnez A, Ibarra-González I, Velázquez-Arellano A. Hernández-Vázquez A, et al. Among authors: pindolia k. Mol Genet Metab. 2013 Nov;110(3):248-54. doi: 10.1016/j.ymgme.2013.08.018. Epub 2013 Sep 8. Mol Genet Metab. 2013. PMID: 24075304

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