Faculty Profile

Dr. Jakub Sikora, M.D.,  Ph.D.

Jakub Sikora, M.D., Ph.D.

Visiting Assistant Professor, Dominick P. Purpura Department of Neuroscience

Professional Interests

Jakub Sikora finished his M.D./Ph.D. training in Cell Biology and Pathology at the Institute of Inherited Metabolic Diseases (1st Faculty of Medicine – Charles University in Prague, Czech Republic) in 2007.

In the years 2011-2014, Dr. Sikora worked as an international neuroscience research fellow (supported by the National Institute of Neurological Diseases and Stroke - NINDS) in the laboratories of Dr. Steven U. Walkley and Dr. Kostantin Dobrenis  at the Dominick D. Purpura Department of Neuroscience of Albert Einstein College of Medicine (Bronx, NY). 

Currently, Dr. Sikora serves as an assistant professor and vice-chairman for graduate studies at the Department of Pediatrics and Adolescent Medicine (1st Faculty of Medicine – Charles University).Dr. Sikora also provides specialized histopathological and ultrastructural expertise in diagnostics of rare diseases.

In close collaboration with Drs. Walkley and Dobrenis, Dr. Sikora pursues research projects aimed at (neuro)pathogenesis and experimental therapies of rare endosomal/lysosomal monogenic diseases. He specifically focuses on Danon disease (LAMP2 def.), Christianson syndrome (SLC9A6 def.), Niemann-Pick type A/B (acid sphingomyelinase def.) and C diseases and Farber disease (acid ceramidase def.). 


Selected Publications

[1] Sikora J, Dworski S, Jones EE, Kamani MA, Micsenyi MC, Sawada T, Le Faouder P, Bertrand-Michel J, Dupuy A, Dunn CK, Xuan IC, Casas J, Fabrias G, Hampson DR, Levade T, Drake RR, Medin JA, Walkley SU: Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities. Am J Pathol 2017, 187:864-83.

[2] Kuchar L, Sikora J, Gulinello ME, Poupetova H, Lugowska A, Malinova V, Jahnova H, Asfaw B, Ledvinova J: Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases. Anal Biochem 2017, 525:73-7.

[3] Boudewyn LC, Sikora J, Kuchar L, Ledvinova J, Grishchuk Y, Wang SL, Dobrenis K, Walkley SU: N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV. Neurobiol Dis 2017, 105:257-70.

[4] Sikora J, Leddy J, Gulinello M, Walkley SU: X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities. Dis Model Mech 2016, 9:13-23.

[5] Davidson CD, Fishman YI, Puskas I, Szeman J, Sohajda T, McCauliff LA, Sikora J, Storch J, Vanier MT, Szente L, Walkley SU, Dobrenis K: Efficacy and ototoxicity of different cyclodextrins in Niemann-Pick C disease. Ann Clin Transl Neurol 2016, 3:366-80.

[6] Sikora J, Majer F, Kalina T: LAMP2 flow cytometry in peripheral white blood cells is an established method that facilitates identification of heterozygous Danon disease female patients and mosaic mutation carriers. J Cardiol 2015, 66:88-9.

[7] 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: A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele. J Neurosci 2015, 35:8091-106.

[8] Majer F, Pelak O, Kalina T, Vlaskova H, Dvorakova L, Honzik T, Palecek T, Kuchynka P, Masek M, Zeman J, Elleder M, Sikora J: Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics. J Inherit Metab Dis 2014, 37:117-24.

[9] Micsenyi MC, Sikora J, Stephney G, Dobrenis K, Walkley SU: Lysosomal membrane permeability stimulates protein aggregate formation in neurons of a lysosomal disease. J Neurosci 2013, 33:10815-27.

[10] Majer F, Vlaskova H, Krol L, Kalina T, Kubanek M, Stolnaya L, Dvorakova L, Elleder M, Sikora J: 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. Gene 2012, 498:183-95.

[11] Baresova V, Skopova V, Sikora J, Patterson D, Sovova J, Zikanova M, Kmoch S: Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency. Hum Mol Genet 2012, 21:1534-43.

[12] Walkley SU, Sikora J, Micsenyi M, Davidson C, Dobrenis K: Lysosomal compromise and brain dysfunction: examining the role of neuroaxonal dystrophy. Biochem Soc Trans 2010, 38:1436-41.

[13] Maclean KN, Sikora J, Kozich V, Jiang H, Greiner LS, Kraus E, Krijt J, Overdier KH, Collard R, Brodsky GL, Meltesen L, Crnic LS, Allen RH, Stabler SP, Elleder M, Rozen R, Patterson D, Kraus JP: A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment. Mol Genet Metab 2010, 101:153-62.

[14] Maclean KN, Sikora J, Kozich V, Jiang H, Greiner LS, Kraus E, Krijt J, Crnic LS, Allen RH, Stabler SP, Elleder M, Kraus JP: Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment. Mol Genet Metab 2010, 101:163-71.

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Charles University in Prague
Ke Karlovu 2
Dept. of Pediatrics and
Adolescent Medicine Prague
Czech Republic