Lista de obras - Jakub Sikora - Dominio Público Uruguay

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

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2005

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

artículo científico publicado en 2017

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

artículo científico publicado el 1 de diciembre de 2010

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

artículo científico publicado en 2010

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.

artículo científico publicado en 2012

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

artículo científico publicado en 2009

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

artículo científico publicado en 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.

artículo científico publicado en 2015

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

artículo científico publicado en 2018

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

artículo científico publicado en 2013

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

artículo científico publicado en 2006

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2006

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

artículo científico publicado en 2020

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

artículo científico publicado en 2017

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

artículo científico publicado en 2008

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

artículo científico publicado en 2006

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

artículo científico publicado en 2003

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

artículo científico publicado en 2018

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

artículo científico publicado en 2006

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

artículo científico publicado en 2015

Lista de obras de 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