Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Mariusz, Berdyński"'
Publikováno v:
Folia Neuropathologica, Vol 62, Iss 2, Pp 113-119 (2024)
Externí odkaz:
https://doaj.org/article/03220b6a5d2f4e629e0fad8e08d5ee06
Autor:
Michalina Wężyk, Mariusz Berdyński, Adam Figarski, Magdalena Skrzypczak, Krzysztof Ginalski, Marzena Zboch, Izabela Winkel, Cezary Żekanowski
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 23, p 16999 (2023)
Presenilin 1 (PS1) forms, via its large cytosolic loop, a trimeric complex with N-cadherin and β-catenin, which is a key component of Wnt signaling. PS1 undergoes phosphorylation at 353 and 357 serines upon enhanced activity and elevated levels of t
Externí odkaz:
https://doaj.org/article/3fe44ada59de48ddbcb563865499d60a
Autor:
Mariusz Berdyński, Przemysław Miszta, Krzysztof Safranow, Peter M. Andersen, Mitsuya Morita, Sławomir Filipek, Cezary Żekanowski, Magdalena Kuźma-Kozakiewicz
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)
Abstract Mutations in superoxide dismutase 1 gene (SOD1) are linked to amyotrophic lateral sclerosis (ALS), a neurodegenerative disorder predominantly affecting upper and lower motor neurons. The clinical phenotype of ALS shows inter- and intrafamili
Externí odkaz:
https://doaj.org/article/50388986f8c545ef930b779117fa5d70
Autor:
Katarzyna Gaweda-Walerych, Dawid Walerych, Mariusz Berdyński, Emanuele Buratti, Cezary Zekanowski
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 14 (2021)
Frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) are neurodegenerative diseases with TDP-43 mislocalization and aggregation. Genetic forms of FTLD and ALS are caused by pathogenic variants in various genes, such as PGR
Externí odkaz:
https://doaj.org/article/aa32eba1161540eb8ec562f9f11fd025
Autor:
Mariusz Berdyński, Jan Ludwiczak, Anna Barczak, Maria Barcikowska-Kotowicz, Magdalena Kuźma-Kozakiewicz, Stanisław Dunin-Horkawicz, Cezary Żekanowski, Beata Borzemska
Publikováno v:
Journal of Alzheimer's disease : JAD. 89(4)
Background: Homozygous variants of the TREM2 and TYROBP genes have been shown to be causative for multiple bone cysts and neurodegeneration leading to progressive dementia (NHD, Nasu-Hakola disease). Objective: To determine if biallelic variants of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cddadd22a84c4d0770bddcbc155e10b1
https://pubmed.ncbi.nlm.nih.gov/36031890
https://pubmed.ncbi.nlm.nih.gov/36031890
Publikováno v:
PLoS ONE, Vol 10, Iss 8, p e0136754 (2015)
Gilles de la Tourette syndrome (GTS) is a neurodevelopmental disorder characterized by motor and vocal tics. Hyperactivity of dopaminergic transmission is considered a prime abnormality in the pathophysiology of tics. There are reciprocal antagonisti
Externí odkaz:
https://doaj.org/article/2016773d39cb40d4b55eed5f30d7d582
Autor:
Paweł Cięszczyk, Kinga Humińska-Lisowska, Jakub Grzegorz Adamczyk, Cezary Żekanowski, Jakub Piotr Fichna, Mariusz Berdyński, Krzysztof Safranow
Publikováno v:
Genes
Volume 12
Issue 6
Genes, Vol 12, Iss 919, p 919 (2021)
Volume 12
Issue 6
Genes, Vol 12, Iss 919, p 919 (2021)
Numerous genetic factors have been shown to influence athletic performance, but the list is far from comprehensive. In this study, we analyzed genetic variants in two genes related to mental abilities, SLC6A2 (rs1805065) and SYNE1 (rs2635438) in a gr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63b5591f5bbc990bff4d5460c60e95b9
http://europepmc.org/articles/PMC8232774
http://europepmc.org/articles/PMC8232774
Autor:
Monika Michałowska-Sawczyn, Kinga Humińska-Lisowska, Marcin Siewierski, Jakub Grzegorz Adamczyk, Artur Gurgul, Agata Piestrzyńska-Kajtoch, Cezary Żekanowski, Beata Pepłońska, Paweł Cięszczyk, Agnieszka Fornal, Mariusz Berdyński
Publikováno v:
Genes
Volume 12
Issue 2
Genes, Vol 12, Iss 262, p 262 (2021)
Volume 12
Issue 2
Genes, Vol 12, Iss 262, p 262 (2021)
In all sport disciplines, excellent coordination of movements is crucial for achieving mastery. The ability to learn new motor skills quickly and effectively is dependent on efficient myelination which varies between individuals. It has been suggeste
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d131cfcb3dea390e718e8aca63beb389
http://europepmc.org/articles/PMC7917663
http://europepmc.org/articles/PMC7917663
Autor:
Mariusz Berdyński, Piotr Krawczyk, Krzysztof Safranow, Beata Borzemska, Jacek P. Szaflik, Karolina Nowakowska-Żawrocka, Cezary Żekanowski, Joanna Giebułtowicz
Publikováno v:
Journal of Clinical Medicine; Volume 11; Issue 1; Pages: 8
Journal of Clinical Medicine
Journal of Clinical Medicine, Vol 11, Iss 8, p 8 (2022)
Journal of Clinical Medicine
Journal of Clinical Medicine, Vol 11, Iss 8, p 8 (2022)
Background: ALDH3A1 protein is important in maintaining corneal physiology and protecting the eye from UV damage. However, none of the genome-wide association studies has indicated that the ALDH3A1 locus is associated with keratoconus. In this study,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::709dbf8bca8be95fca0aae0d6fb76798
https://doi.org/10.3390/jcm11010008
https://doi.org/10.3390/jcm11010008
Autor:
Ewa Narożańska, Michal Korostynski, Bogna Brockhuis, Emilia J. Sitek, Cezary Zekanowski, Mariusz Berdyński, Katarzyna Gaweda-Walerych, Malgorzata Borczyk, Jarosław Sławek
Publikováno v:
Genes
Genes, Vol 12, Iss 1806, p 1806 (2021)
Genes, Vol 12, Iss 1806, p 1806 (2021)
We have performed whole-genome sequencing to identify the genetic variants potentially contributing to the early-onset semantic dementia phenotype in a patient with family history of dementia and episodic memory deficit accompanied with profound sema
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4885769111abf4eebcac4d96b3669968
https://doi.org/10.3390/genes12111806
https://doi.org/10.3390/genes12111806