Sanfilippo Syndrome: Optimizing Care with a Multidisciplinary Approach

Autor: Cyske Z, Anikiej-Wiczenbach P, Wisniewska K, Gaffke L, Pierzynowska K, Mański A, Wegrzyn G

Publikováno v: Journal of Multidisciplinary Healthcare, Vol Volume 15, Pp 2097-2110 (2022)

Zuzanna Cyske,1 Paulina Anikiej-Wiczenbach,2 Karolina Wisniewska,1 Lidia Gaffke,1 Karolina Pierzynowska,1 Arkadiusz Mański,2 Grzegorz Wegrzyn1 1Department of Molecular Biology, Faculty of Biology, University of Gdansk, Gdansk, 80-308, Poland;

Externí odkaz: https://doaj.org/article/df17ed6d4fd244d4bf37914956d97078

Metabolic alterations in fibroblasts of patients presenting with the MPAN subtype of neurodegeneration with brain iron accumulation (NBIA).

Autor: Wydrych A; Laboratory of Mitochondrial Biology and Metabolism, Nencki Institute of Experimental Biology, Polish Academy of Sciences, Warsaw, Poland., Pakuła B; Laboratory of Mitochondrial Biology and Metabolism, Nencki Institute of Experimental Biology, Polish Academy of Sciences, Warsaw, Poland., Jakubek-Olszewska P; Laboratory of Mitochondrial Biology and Metabolism, Nencki Institute of Experimental Biology, Polish Academy of Sciences, Warsaw, Poland., Janikiewicz J; Laboratory of Cell Signaling and Metabolic Disorders, Nencki Institute of Experimental Biology, Polish Academy of Sciences, Warsaw, Poland., Dobosz AM; Laboratory of Cell Signaling and Metabolic Disorders, Nencki Institute of Experimental Biology, Polish Academy of Sciences, Warsaw, Poland., Cudna A; II(nd) Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland., Rydzewski M; II(nd) Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland., Pierzynowska K; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Gdansk, Poland., Gaffke L; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Gdansk, Poland., Cyske Z; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Gdansk, Poland., Rintz E; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Gdansk, Poland., Kurkowska-Jastrzębska I; II(nd) Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland., Cwyl M; Warsaw University of Technology, Warsaw, Poland; NBIA Poland Association, Warsaw, Poland., Pinton P; Laboratory for Technologies of Advanced Therapies, Department of Medical Sciences, Section of Experimental Medicine, University of Ferrara, Ferrara, Italy., Węgrzyn G; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Gdansk, Poland., Koopman WJH; Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands., Dobrzyń A; Laboratory of Cell Signaling and Metabolic Disorders, Nencki Institute of Experimental Biology, Polish Academy of Sciences, Warsaw, Poland., Skowrońska M; II(nd) Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland., Lebiedzińska-Arciszewska M; Laboratory of Mitochondrial Biology and Metabolism, Nencki Institute of Experimental Biology, Polish Academy of Sciences, Warsaw, Poland., Wieckowski MR; Laboratory of Mitochondrial Biology and Metabolism, Nencki Institute of Experimental Biology, Polish Academy of Sciences, Warsaw, Poland. Electronic address: m.wieckowski@nencki.edu.pl.

Publikováno v: Biochimica et biophysica acta. Molecular basis of disease [Biochim Biophys Acta Mol Basis Dis] 2025 Jan; Vol. 1871 (1), pp. 167541. Date of Electronic Publication: 2024 Oct 15.

Comprehensive evaluation of pathogenic protein accumulation in fibroblasts from all subtypes of Sanfilippo disease patients.

Autor: Wiśniewska K; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland., Rintz E; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland., Żabińska M; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland., Gaffke L; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland., Podlacha M; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland., Cyske Z; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland., Węgrzyn G; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland., Pierzynowska K; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland. Electronic address: karolina.pierzynowska@ug.edu.pl.

Publikováno v: Biochemical and biophysical research communications [Biochem Biophys Res Commun] 2024 Nov 12; Vol. 733, pp. 150718. Date of Electronic Publication: 2024 Sep 19.

Mucopolysaccharidosis-Plus Syndrome: Is This a Type of Mucopolysaccharidosis or a Separate Kind of Metabolic Disease?

Autor: Cyske Z; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland., Gaffke L; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland., Pierzynowska K; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland., Węgrzyn G; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2024 Sep 04; Vol. 25 (17). Date of Electronic Publication: 2024 Sep 04.

Mucopolysaccharidosis Type IIIE: A Real Human Disease or a Diagnostic Pitfall?

Autor: Wiśniewska K; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland., Wolski J; Psychiatry Ward, 7th Navy Hospital in Gdansk, Polanki 117, 80-305 Gdansk, Poland., Żabińska M; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland., Szulc A; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland., Gaffke L; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland., Pierzynowska K; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland., Węgrzyn G; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland.

Publikováno v: Diagnostics (Basel, Switzerland) [Diagnostics (Basel)] 2024 Aug 09; Vol. 14 (16). Date of Electronic Publication: 2024 Aug 09.