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Thyroid Function and Morphology in Gaucher Disease: Exploring the Endocrine Implications.
Int J Mol Sci
December 2024
Ward of Endocrinology, Metabolism and Internal Diseases Ward, University Clinical Hospital, 60-786 Poznan, Poland.
Gaucher disease (GD), the most common ultra-rare metabolic disorder, results from lipid accumulation. Systemic inflammation, cellular stress, and metabolic dysfunction may influence endocrine function, including the thyroid. This study evaluated thyroid function and morphology in 60 GD patients, alongside carbohydrate and lipid metabolism.
View Article and Find Full Text PDFEffects of Variants and Prenatal Exposition on the Glucosylsphingosine (Lyso-Gb1) Levels in Gaucher Disease Carriers.
Int J Mol Sci
November 2024
Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
Gaucher disease (GD) is a lysosomal lipid storage disorder caused by β-glucocerebrosidase (encoded by gene) activity deficiency, resulting in the accumulation of glucosylceramide (Gb1) and its deacylated metabolite glucosylsphingosine (lyso-Gb1). Lyso-Gb1 has been studied previously and proved to be a sensitive biomarker, distinguishing patients with GD from carriers and healthy subjects. It was shown that its level corresponds with β-glucocerebrosidase activity, thus it remains unknown as to why carriers have slightly higher lyso-Gb1 level than healthy population.
View Article and Find Full Text PDFLong- and Short-Term Glucosphingosine (lyso-Gb1) Dynamics in Gaucher Patients Undergoing Enzyme Replacement Therapy.
Biomolecules
July 2024
Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, 04-736 Warsaw, Poland.
: Gaucher disease (GD) is a lysosomal storage disorder caused by mutations in the gene, leading to β-glucocerebrosidase deficiency and glucosylceramide accumulation. : We analyzed short- and long-term dynamics of lyso-glucosylceramide (lyso-Gb1) in a large cohort of GD patients undergoing enzyme replacement therapy (ERT). : Eight-years analysis of lyso-Gb1 revealed statistically insignificant variability in the biomarker across the years and relatively high individual variability in patients' results.
View Article and Find Full Text PDFLentivirus-modified hematopoietic stem cell gene therapy for advanced symptomatic juvenile metachromatic leukodystrophy: a long-term follow-up pilot study.
Protein Cell
January 2025
Cord Blood Bank, Guangzhou Institute of Eugenics and Perinatology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China.
Metachromatic leukodystrophy (MLD) is an inherited disease caused by a deficiency of the enzyme arylsulfatase A (ARSA). Lentivirus-modified autologous hematopoietic stem cell gene therapy (HSCGT) has recently been approved for clinical use in pre and early symptomatic children with MLD to increase ARSA activity. Unfortunately, this advanced therapy is not available for most patients with MLD who have progressed to more advanced symptomatic stages at diagnosis.
View Article and Find Full Text PDFMolecular mechanisms of the ambroxol action in Gaucher disease and GBA1 mutation-associated Parkinson disease.
Neurochem Int
September 2024
Department of Molecular Biology, University of Gdansk, Wita Stwosza 59, 80-308, Gdansk, Poland. Electronic address:
Glucocerebrosidase (GCase), encoded by the GBA1 gene, is one of the lysosomal enzymes responsible for hydrolyzing the glycosphingolipids. Deficiency in GCase activity (in patients with two defective alleles of GBA1) leads to glucosylceramide storage in lysosomes which in turn results in the development of the Gaucher diseases, a lysosomal storage disorder, while a heterozygous state may be correlated with the GBA1 mutation-associated Parkinson disease. One of the proposed forms of therapy for these two conditions is the use of pharmacological chaperones which work by facilitating the achievement of the correct conformation of abnormally folded enzymes.
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