J. Sikora

发表

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

P. Kuchynka, T. Kalina, Ondřej Pelák, 2014, Journal of Inherited Metabolic Disease.

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

M. Elleder, J. Sikora, K. Harzer, 2006, Acta Neuropathologica.

A case of excessive autophagocytosis with multiorgan involvement and low clinical penetrance.

J. Špaček, M. Elleder, L. Dvořáková, 2007, Ceskoslovenska patologie.

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

W. Kuebler, Haibo Zhang, J. Medin, 2018, American journal of physiology. Lung cellular and molecular physiology.

Lysosomal Membrane Permeability Stimulates Protein Aggregate Formation in Neurons of a Lysosomal Disease

S. Walkley, Matthew C. Micsenyi, G. Stephney, 2013, The Journal of Neuroscience.

A Murine Niemann-Pick C1 I1061T Knock-In Model Recapitulates the Pathological Features of the Most Prevalent Human Disease Allele

F. Maxfield, D. Ory, J. Schaffer, 2015, The Journal of Neuroscience.

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

M. Kalbáčová, J. Fryns, K. Hodaňová, 2006, Kidney international.

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

K. Hodaňová, S. Kmoch, J. Živný, 2010, Clinical nephrology.

An International Cohort Study of Autosomal Dominant Tubulointerstitial Kidney Disease due to REN Mutations Identifies Distinct Clinical Subtypes.

K. Tory, C. Shaw-Smith, A. Jakubowska, 2020, Kidney international.

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

T. Kalina, S. Kmoch, P. Dušek, 2019, American journal of medical genetics. Part A.

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

S. Walkley, C. Davidson, Matthew C. Micsenyi, 2010, Biochemical Society transactions.

A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis.

K. Hodaňová, H. Hartmannová, L. Nosková, 2021, Kidney international.

Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study

T. Kalina, Ondřej Pelák, J. Kautzner, 2020, ESC heart failure.

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

T. Kalina, Ondřej Pelák, S. Kmoch, 2018, American journal of medical genetics. Part A.

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.

T. Kalina, M. Elleder, M. Kubanek, 2012, Gene.

Danon disease - a disorder of autophagy as a cause of hypertrophic cardiomyopathy

J. Pirk, J. Maluskova, M. Elleder, 2010 .

Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations

M. Jirsa, M. Vanier, M. Hřebíček, 2019, Orphanet Journal of Rare Diseases.

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

S. Walkley, L. Szente, J. Storch, 2016, Annals of clinical and translational neurology.

More on clinical renal genetics.

F. Nevens, C. Antignac, M. Kalbáčová, 2010, Clinical journal of the American Society of Nephrology : CJASN.

AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?

K. Hodaňová, H. Hartmannová, S. Kmoch, 2022, bioRxiv.

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

M. Elleder, M. Hřebíček, L. Dvořáková, 2006, Journal of Inherited Metabolic Disease.

Skin inflammation and impaired adipogenesis in a mouse model of acid ceramidase deficiency

J. Medin, J. Sikora, J. Rybova, 2022, Journal of inherited metabolic disease.

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

A. Lugowska, J. Sikora, H. Jahnová, 2017, Analytical biochemistry.

NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease.

S. Kmoch, E. Hrubá, T. Honzík, 2020, Journal of neuropathology and experimental neurology.

The Impact of Kohlrabi Sprouts on Various Thyroid Parameters in Iodine Deficiency- and Sulfadimethoxine-Induced Hypothyroid Rats

P. Paśko, P. Zagrodzki, R. Francik, 2022, Nutrients.

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

Lauren C. Boudewyn, S. Walkley, K. Dobrenis, 2017, Neurobiology of Disease.

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

L. Meltesen, R. Rozen, G. Brodsky, 2010, Molecular genetics and metabolism.

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

M. Elleder, H. Hulkova, J. Sikora, 2008, Virchows Archiv.

Pitfalls of X‐chromosome inactivation testing in females with Fabry disease

A. Linhart, L. Dvořáková, G. Dostálová, 2022, American journal of medical genetics. Part A.

Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency.

S. Kmoch, D. Patterson, V. Barešová, 2012, Human molecular genetics.

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

T. Hudson, A. Verner, A. Pshezhetsky, 2006, American journal of human genetics.

Mutations in TMEM76* Cause Mucopolysaccharidosis IIIC

T. Hudson, A. Verner, A. Pshezhetsky, 2006 .

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

C. Antignac, M. Kalbáčová, J. Fryns, 2009, American journal of human genetics.

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

S. Walkley, J. Sikora, M. Gulinello, 2016, Disease Models & Mechanisms.

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

Jana Uřinovská, M. Hřebíček, F. Majer, 2010, Molecular and Cellular Biochemistry.

Novel aspects of molecular biology and pathology of lysosomal storage disorders.studies with partial use of Caenorhabditis elegans

J. Sikora, 2007 .

Seven Novel Acid Sphingomyelinase Gene Mutations in Niemann‐Pick Type A and B Patients

R. Wevers, H. Roelofs, M. Elleder, 2003, Annals of human genetics.

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

J. Medin, S. Walkley, P. Le Faouder, 2017, The American journal of pathology.

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

M. Hřebíček, J. Sikora, H. Poupětová, 2005, BMC Cell Biology.

Combined valve replacement and aortocoronary bypass in an adult mucopolysaccharidosis type VII patient.

P. Kuchynka, M. Tesařová, J. Zeman, 2020, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.

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

J. Kraus, M. Elleder, Hua Jiang, 2010, Molecular genetics and metabolism.

Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study

J. Zeman, K. Sandhoff, M. Elleder, 2005, Journal of Inherited Metabolic Disease.

Hepatic pathology and altered gene transcription in a murine model of acid ceramidase deficiency

J. Medin, A. Geurts, P. Turner, 2019, Laboratory Investigation.

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

J. Medin, J. Carroll, A. Salmon, 2019, The American journal of pathology.

Specific storage of glycoconjugates with terminal &agr;-galactosyl moieties in the exocrine pancreas of Fabry disease patients with blood group B

V. Havlíček, Ľ. Škultéty, H. Hulkova, 2018, Glycobiology.

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

J. Zeman, A. Linhart, H. Vlaskova, 2018, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.

Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant?

T. Honzík, V. Stránecký, A. Přistoupilová, 2021, Annals of clinical and translational neurology.

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

J. Sikora, J. Rybova, J. Ledvinová, 2018, Journal of Inherited Metabolic Disease.

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

F. Andermann, E. Andermann, K. Hodaňová, 2020, European Journal of Human Genetics.

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

T. Kalina, M. Michaelides, H. Langrová, 2020, Acta ophthalmologica.

Elevated and deregulated expression of HDAC3 in human astrocytic glial tumours.

J. Sikora, M. Pohludka, J. E. Rall, 2006, Folia biologica.

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.

T. Kalina, F. Majer, J. Sikora, 2015, Journal of cardiology.