Hana Hansikova

Prague, PR, Czech Republic

Last Updated: 09/26/2026

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Found 102 publications

Variant-specific SF3B1 mutations drive distinct splicing and mitochondrial dysfunction in myelodysplastic neoplasms.

Variant-specific SF3B1 mutations drive distinct splicing and mitochondrial dysfunction in myelodysplastic neoplasms.

Journal: Human genomics
Published: January 06, 2026

Polyunsaturated fatty acid sequestration protects against mitochondrial dysfunction-induced ferroptosis.

Polyunsaturated fatty acid sequestration protects against mitochondrial dysfunction-induced ferroptosis.

Journal: EMBO reports
Published: November 12, 2025

Glycogen storage disease type IX: Long-term follow-up of 52 patients from three European countries.

Glycogen storage disease type IX: Long-term follow-up of 52 patients from three European countries.

Journal: Molecular genetics and metabolism reports
Published: October 09, 2025

Induced pluripotent stem cells from a transgenic minipig model of Huntington's disease reveal early metabolic changes.

Induced pluripotent stem cells from a transgenic minipig model of Huntington's disease reveal early metabolic changes.

Journal: Disease models & mechanisms
Published: July 28, 2025

Dysregulation of store-operated calcium entry in fibroblast lines from adult and juvenile-onset Huntington's disease patients.

Dysregulation of store-operated calcium entry in fibroblast lines from adult and juvenile-onset Huntington's disease patients.

Journal: Pharmacological reports : PR
Published: June 24, 2025

Insights Into the Pathological Glycosylation Associated With COG6-CDG.

Insights Into the Pathological Glycosylation Associated With COG6-CDG.

Journal: Human mutation
Published: January 20, 2025

YME1L1 Dysfunction Associated With 3-Methylglutaconic Aciduria.

YME1L1 Dysfunction Associated With 3-Methylglutaconic Aciduria.

Journal: Journal of inherited metabolic disease
Published: November 15, 2024

Cryopreserved PBMCs can be used for the analysis of mitochondrial respiration and serve as a diagnostic tool for mitochondrial diseases.

Cryopreserved PBMCs can be used for the analysis of mitochondrial respiration and serve as a diagnostic tool for mitochondrial diseases.

Journal: Analytical biochemistry
Published: September 19, 2024

Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.

Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.

Journal: Journal of inherited metabolic disease
Published: July 02, 2024

A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.

A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.

Journal: Cell
Published: June 13, 2024

Large TRAPPC11 gene deletions as a cause of muscular dystrophy and their estimated genesis.

Large TRAPPC11 gene deletions as a cause of muscular dystrophy and their estimated genesis.

Journal: Journal of medical genetics
Published: March 26, 2024

Deciphering pathophysiological mechanisms underlying cystathionine beta-synthase-deficient homocystinuria using targeted metabolomics, liver proteomics, sphingolipidomics and analysis of mitochondrial function.

Deciphering pathophysiological mechanisms underlying cystathionine beta-synthase-deficient homocystinuria using targeted metabolomics, liver proteomics, sphingolipidomics and analysis of mitochondrial function.

Journal: Redox biology
Published: February 29, 2024
Showing 1-12 of 102

Last Updated: 09/26/2026