B
Barbara Czartoryska
Researcher at Curie Institute
Publications - 62
Citations - 1503
Barbara Czartoryska is an academic researcher from Curie Institute. The author has contributed to research in topics: Enzyme replacement therapy & Metachromatic leukodystrophy. The author has an hindex of 22, co-authored 61 publications receiving 1381 citations.
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Journal ArticleDOI
Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses
Ewa Piotrowska,Joanna Jakóbkiewicz-Banecka,Sylwia Barańska,Anna Tylki-Szymańska,Barbara Czartoryska,Alicja Węgrzyn,Grzegorz Węgrzyn +6 more
TL;DR: It is found that genistein inhibits synthesis of GAGs considerably in cultures of fibroblasts of MPS patients and is proposed to consider a substrate reduction therapy for MPS, which is referred to as ‘gene expression-targeted isoflavone therapy’.
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Genistin-Rich Soy Isoflavone Extract in Substrate Reduction Therapy for Sanfilippo Syndrome: An Open-Label, Pilot Study in 10 Pediatric Patients
Ewa Piotrowska,Joanna Jakóbkiewicz-Banecka,Anna Tylki-Szymańska,Anna Liberek,Agnieszka Maryniak,Marcelina Malinowska,Barbara Czartoryska,Ewa Puk,Anna Kloska,Tomasz Liberek,Sylwia Barańska,Alicja Węgrzyn,Grzegorz Węgrzyn +12 more
TL;DR: This pilot study found some improvements in GAG concentration, hair morphology, and cognitive function in these pediatric patients with Sanfilippo syndrome treated with genistin-rich soy isoflavone extract for 1 year.
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Non-neuronopathic Gaucher disease due to saposin C deficiency
Anna Tylki-Szymańska,Barbara Czartoryska,Marie T. Vanier,B. J. M. H. Poorthuis,J. A. E. Groener,Agnieszka Ługowska,Gilles Millat,Anna Maria Vaccaro,Elżbieta Jurkiewicz +8 more
TL;DR: The presented findings describe the first cases where the non‐neuronopathic Gaucher disease has been definitely demonstrated to be a consequence of SAP‐C deficiency.
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Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex
Kiven Erique Lukong,Marc-André Elsliger,Yuan Chang,Catherine Richard,George H. Thomas,W.F. Carey,Anna Tylki-Szymańska,Barbara Czartoryska,Tina Buchholz,German Rodríguez Criado,Silvia Palmeri,Alexey V. Pshezhetsky +11 more
TL;DR: This analysis showed that five mutations dramatically reduce the enzyme activity and cause a rapid intralysosomal degradation of the expressed protein, and it is hypothesized that this region may be involved in the interface of sialidase binding with lysosome cathepsin A and/or beta-galactosidase in their high-molecular-weight complex required for the expression of sIALidase activity in the lysOSome.
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Identification of 31 novel mutations in the N‐acetylgalactosamine‐6‐sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome
Susanna Bunge,Wim J. Kleijer,Anna Tylki-Szymańska,Cordula Steglich,Michael Beck,Shunji Tomatsu,Seiji Fukuda,Ben J. H. M. Poorthuis,Barbara Czartoryska,Tadao Orii,Andreas Gal +10 more
TL;DR: Mutation analysis of the N‐acetylgalactosamine‐6‐sulfate sulfatase gene was performed in patients with mucopolysaccharidosis type IVA from 33 families, mainly of European origin, and found the vast majority of the gene alterations proved to be point mutations.