Sikora J - Search Results

1

X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities.

Sikora J, Leddy J, Gulinello M, Walkley SU. Sikora J, et al. Dis Model Mech. 2016 Jan;9(1):13-23. doi: 10.1242/dmm.022780. Epub 2015 Oct 29. Dis Model Mech. 2016. PMID: 26515654 Free PMC article.

2

Lysosomal compromise and brain dysfunction: examining the role of neuroaxonal dystrophy.

Walkley SU, Sikora J, Micsenyi M, Davidson C, Dobrenis K. Walkley SU, et al. Among authors: sikora j. Biochem Soc Trans. 2010 Dec;38(6):1436-41. doi: 10.1042/BST0381436. Biochem Soc Trans. 2010. PMID: 21118103 Free PMC article.

3

Lysosomal membrane permeability stimulates protein aggregate formation in neurons of a lysosomal disease.

Micsenyi MC, Sikora J, Stephney G, Dobrenis K, Walkley SU. Micsenyi MC, et al. Among authors: sikora j. J Neurosci. 2013 Jun 26;33(26):10815-27. doi: 10.1523/JNEUROSCI.0987-13.2013. J Neurosci. 2013. PMID: 23804102 Free PMC article.

4

A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele.

Praggastis M, Tortelli B, Zhang J, Fujiwara H, Sidhu R, Chacko A, Chen Z, Chung C, Lieberman AP, Sikora J, Davidson C, Walkley SU, Pipalia NH, Maxfield FR, Schaffer JE, Ory DS. Praggastis M, et al. Among authors: sikora j. J Neurosci. 2015 May 27;35(21):8091-106. doi: 10.1523/JNEUROSCI.4173-14.2015. J Neurosci. 2015. PMID: 26019327 Free PMC article.

5

Efficacy and ototoxicity of different cyclodextrins in Niemann-Pick C disease.

Davidson CD, Fishman YI, Puskás I, Szemán J, Sohajda T, McCauliff LA, Sikora J, Storch J, Vanier MT, Szente L, Walkley SU, Dobrenis K. Davidson CD, et al. Among authors: sikora j. Ann Clin Transl Neurol. 2016 Apr 20;3(5):366-80. doi: 10.1002/acn3.306. eCollection 2016 May. Ann Clin Transl Neurol. 2016. PMID: 27231706 Free PMC article.

6

Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases.

Kuchar L, Sikora J, Gulinello ME, Poupetova H, Lugowska A, Malinova V, Jahnova H, Asfaw B, Ledvinova J. Kuchar L, et al. Among authors: sikora j. Anal Biochem. 2017 May 15;525:73-77. doi: 10.1016/j.ab.2017.02.019. Epub 2017 Mar 1. Anal Biochem. 2017. PMID: 28259515

7

Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities.

Sikora J, Dworski S, Jones EE, Kamani MA, Micsenyi MC, Sawada T, Le Faouder P, Bertrand-Michel J, Dupuy A, Dunn CK, Xuan ICY, Casas J, Fabrias G, Hampson DR, Levade T, Drake RR, Medin JA, Walkley SU. Sikora J, et al. Am J Pathol. 2017 Apr;187(4):864-883. doi: 10.1016/j.ajpath.2016.12.005. Am J Pathol. 2017. PMID: 28342444 Free PMC article.

8

N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV.

Boudewyn LC, Sikora J, Kuchar L, Ledvinova J, Grishchuk Y, Wang SL, Dobrenis K, Walkley SU. Boudewyn LC, et al. Among authors: sikora j. Neurobiol Dis. 2017 Sep;105:257-270. doi: 10.1016/j.nbd.2017.06.003. Epub 2017 Jun 10. Neurobiol Dis. 2017. PMID: 28610891 Free PMC article.

9

Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics.

Majer F, Pelak O, Kalina T, Vlaskova H, Dvorakova L, Honzik T, Palecek T, Kuchynka P, Masek M, Zeman J, Elleder M, Sikora J. Majer F, et al. Among authors: sikora j. J Inherit Metab Dis. 2014 Jan;37(1):117-24. doi: 10.1007/s10545-013-9617-z. Epub 2013 May 29. J Inherit Metab Dis. 2014. PMID: 23716275

10

Danon disease: a focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency.

Majer F, Vlaskova H, Krol L, Kalina T, Kubanek M, Stolnaya L, Dvorakova L, Elleder M, Sikora J. Majer F, et al. Among authors: sikora j. Gene. 2012 May 1;498(2):183-95. doi: 10.1016/j.gene.2012.02.004. Epub 2012 Feb 21. Gene. 2012. PMID: 22365987

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