List of works - Jakub Sikora

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

scientific article published on May 2015

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.

scientific article published on 23 June 2010

Acid Ceramidase Deficiency in Mice Leads to Severe Ocular Pathology and Visual Impairment

scientific article published on 23 November 2018

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

scientific article published in April 2017

Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome.

scientific article published on 2 August 2006

Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient

scientific article published on 15 November 2019

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

scientific article published on 09 January 2020

Bioinformatic and biochemical studies point to AAGR-1 as the ortholog of human acid alpha-glucosidase in Caenorhabditis elegans

scientific article published on 27 March 2010

Characterization of gana-1, a Caenorhabditis elegans gene encoding a single ortholog of vertebrate alpha-galactosidase and alpha-N-acetylgalactosaminidase

scientific article

Chronic lung injury and impaired pulmonary function in a mouse model of acid ceramidase deficiency

scientific article published on 22 November 2017

Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone ⬇️

scientific article published on December 1, 2010

Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment.

scientific article

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.

scientific article published on 21 February 2012

Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure

scientific article

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

scientific article (publication date: May 2016)

LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?

scientific article published on 08 September 2018

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.

scientific article published on 27 January 2015

Late diagnosis of mucopolysaccharidosis type IVB and successful aortic valve replacement in a 60-year-old female patient

scientific article published on 12 April 2018

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

scientific article published on 29 May 2013

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)

scientific article

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

scientific article published on 10 June 2017

Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II.

scientific article published on 22 November 2017

Neurolysosomal pathology in human prosaposin deficiency suggests essential neurotrophic function of prosaposin

scientific article published on 6 October 2006

Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease

scientific article published on 13 June 2020

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

scientific article

Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients.

scientific article published on 20 March 2008

Retrospective sequence analysis of the human PRNP gene from the formaldehyde-fixed paraffin-embedded tissues: report of two cases of Creutzfeldt-Jakob disease

scientific article published on 01 January 2006

Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients

scientific article published in January 2003

Specific storage of glycoconjugates with terminal α-galactosyl moieties in the exocrine pancreas of Fabry disease patients with blood group B.

scientific article published on 14 March 2018

Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?

scientific article published on 26 June 2006

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

scientific article published on 29 October 2015

List of works by Jakub Sikora

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

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.

Acid Ceramidase Deficiency in Mice Leads to Severe Ocular Pathology and Visual Impairment

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

Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome.

Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

Bioinformatic and biochemical studies point to AAGR-1 as the ortholog of human acid alpha-glucosidase in Caenorhabditis elegans

Characterization of gana-1, a Caenorhabditis elegans gene encoding a single ortholog of vertebrate alpha-galactosidase and alpha-N-acetylgalactosaminidase

Chronic lung injury and impaired pulmonary function in a mouse model of acid ceramidase deficiency

Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone ⬇️

Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment.

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.

Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure

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

LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?

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.

Late diagnosis of mucopolysaccharidosis type IVB and successful aortic valve replacement in a 60-year-old female patient

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

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)

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

Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II.

Neurolysosomal pathology in human prosaposin deficiency suggests essential neurotrophic function of prosaposin

Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease

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

Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients.

Retrospective sequence analysis of the human PRNP gene from the formaldehyde-fixed paraffin-embedded tissues: report of two cases of Creutzfeldt-Jakob disease

Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients

Specific storage of glycoconjugates with terminal α-galactosyl moieties in the exocrine pancreas of Fabry disease patients with blood group B.

Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?

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