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] 2024 Oct 15; Vol. 1871 (1), pp. 167541. Date of Electronic Publication: 2024 Oct 15.

Molecular mechanisms of the ambroxol action in Gaucher disease and GBA1 mutation-associated Parkinson disease.

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

Publikováno v: Neurochemistry international [Neurochem Int] 2024 Sep; Vol. 178, pp. 105774. Date of Electronic Publication: 2024 May 24.

Highly diverse phenotypes of mucopolysaccharidosis type IIIB sibling patients: effects of an additional mutation in the AUTS2 gene.

Autor: Anikiej-Wiczenbach P; Psychological Counselling Centre of Rare Genetic Diseases, University of Gdańsk, Bażyńskiego 4, 80-309, Gdańsk, Poland., Mański A; Psychological Counselling Centre of Rare Genetic Diseases, University of Gdańsk, Bażyńskiego 4, 80-309, Gdańsk, Poland., Milska-Musa K; Department of Quality of Life Research, Faculty of Health Sciences With the Institute of Maritime and Tropical Medicine, Medical University of Gdansk, Tuwima 15, 80-210, Gdańsk, Poland., Limanówka M; Departement of Pediatrics, Hematology and Oncology, Medical University of Gdańsk, Dębinki 7, 80-952, Gdansk, Poland., Wierzba J; Department of Internal and Pediatric Nursing, Medical University of Gdańsk, Gdańsk, Dębinki 7, 80-952, Gdansk, Poland., Jamsheer A; Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka 8, 60-806, Poznan, Poland., Cyske Z; Department of Molecular Biology, Faculty of Biology, University of Gdańsk, Wita Stwosza 59, 80-308, Gdańsk, Poland., Gaffke L; Department of Molecular Biology, Faculty of Biology, University of Gdańsk, Wita Stwosza 59, 80-308, Gdańsk, Poland., Pierzynowska K; Department of Molecular Biology, Faculty of Biology, University of Gdańsk, Wita Stwosza 59, 80-308, Gdańsk, Poland., Węgrzyn G; Department of Molecular Biology, Faculty of Biology, University of Gdańsk, Wita Stwosza 59, 80-308, Gdańsk, Poland. grzegorz.wegrzyn@biol.ug.edu.pl.

Publikováno v: Journal of applied genetics [J Appl Genet] 2022 Sep; Vol. 63 (3), pp. 535-542. Date of Electronic Publication: 2022 May 08.

Misdiagnosis in mucopolysaccharidoses.

Autor: Wiśniewska K; Department of Molecular Biology, Faculty of Biology, University of Gdańsk, Wita Stwosza 59, 80-308, Gdańsk, Poland., Wolski J; Psychiatry Ward, 7th Navy Hospital in Gdańsk, Polanki 117, 80-305, Gdańsk, Poland., Gaffke L; Department of Molecular Biology, Faculty of Biology, University of Gdańsk, Wita Stwosza 59, 80-308, Gdańsk, Poland., Cyske Z; Department of Molecular Biology, Faculty of Biology, University of Gdańsk, Wita Stwosza 59, 80-308, Gdańsk, Poland., Pierzynowska K; Department of Molecular Biology, Faculty of Biology, University of Gdańsk, Wita Stwosza 59, 80-308, Gdańsk, Poland., Węgrzyn G; Department of Molecular Biology, Faculty of Biology, University of Gdańsk, Wita Stwosza 59, 80-308, Gdańsk, Poland. grzegorz.wegrzyn@biol.ug.edu.pl.

Publikováno v: Journal of applied genetics [J Appl Genet] 2022 Sep; Vol. 63 (3), pp. 475-495. Date of Electronic Publication: 2022 May 13.