Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Teresa Zoladek"'
Autor:
Joanna Kaminska, Teresa Zoladek
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 24, p 15821 (2022)
One of the goals of human genetics is to discover the variants that contribute to human diseases [...]
Externí odkaz:
https://doaj.org/article/6ad37b81803d431689c8e0d2ac9aa8c1
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 9, p 5106 (2022)
Mutations in human VPS13A-D genes result in rare neurological diseases, including chorea-acanthocytosis. The pathogenesis of these diseases is poorly understood, and no effective treatment is available. As VPS13 genes are evolutionarily conserved, th
Externí odkaz:
https://doaj.org/article/5fbb0f308484445ea96743021882d1dd
Autor:
Damian Kolakowski, Weronika Rzepnikowska, Aneta Kaniak-Golik, Teresa Zoladek, Joanna Kaminska
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 22, p 12274 (2021)
VPS13 proteins are evolutionarily conserved. Mutations in the four human genes (VPS13A-D) encoding VPS13A-D proteins are linked to developmental or neurodegenerative diseases. The relationship between the specific localization of individual VPS13 pro
Externí odkaz:
https://doaj.org/article/ca2c3cbb52cd46dea30442b7c63e5868
Autor:
Joanna Kaminska, Teresa Zoladek
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 16, p 8775 (2021)
Neurodegenerative diseases are a group of age-related diseases and a growing problem in an aging society [...]
Externí odkaz:
https://doaj.org/article/b3ff8e45d1f94c2cab7332f67e0598e8
Autor:
Piotr Soczewka, Damian Kolakowski, Iwona Smaczynska-de Rooij, Weronika Rzepnikowska, Kathryn R. Ayscough, Joanna Kaminska, Teresa Zoladek
Publikováno v:
Disease Models & Mechanisms, Vol 12, Iss 1 (2019)
Chorea-acanthocytosis (ChAc) is a rare neurodegenerative disease associated with mutations in the human VPS13A gene. The mechanism of ChAc pathogenesis is unclear. A simple yeast model was used to investigate the function of the single yeast VSP13 or
Externí odkaz:
https://doaj.org/article/64ac19d7cd9f4103b5a1df3b85d6e3a8
Autor:
Piotr Soczewka, Déborah Tribouillard-Tanvier, Jean-Paul di Rago, Teresa Zoladek, Joanna Kaminska
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 5, p 2248 (2021)
Ion homeostasis is crucial for organism functioning, and its alterations may cause diseases. For example, copper insufficiency and overload are associated with Menkes and Wilson’s diseases, respectively, and iron imbalance is observed in Parkinson
Externí odkaz:
https://doaj.org/article/bdbdcf626d534eb38edb579cfb27c6be
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 3, p 1193 (2021)
Regulation of calcineurin, a Ca2+/calmodulin-regulated phosphatase, is important for the nervous system, and its abnormal activity is associated with various pathologies, including neurodegenerative disorders. In yeast cells lacking the VPS13 gene (v
Externí odkaz:
https://doaj.org/article/8d985809433245fcb886b480d7416d15
Autor:
Xin Su, Alain Dautant, François Godard, Marine Bouhier, Teresa Zoladek, Roza Kucharczyk, Jean-Paul di Rago, Déborah Tribouillard-Tanvier
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 14, p 5083 (2020)
Probing the pathogenicity and functional consequences of mitochondrial DNA (mtDNA) mutations from patient’s cells and tissues is difficult due to genetic heteroplasmy (co-existence of wild type and mutated mtDNA in cells), occurrence of numerous mt
Externí odkaz:
https://doaj.org/article/3d13de05c6d5453d9198f0dfff6c6853
Autor:
Joanna Kaminska, Damian Kolakowski, Weronika Rzepnikowska, Teresa Zoladek, Aneta Kaniak-Golik
Publikováno v:
International Journal of Molecular Sciences
Volume 22
Issue 22
International Journal of Molecular Sciences, Vol 22, Iss 12274, p 12274 (2021)
Volume 22
Issue 22
International Journal of Molecular Sciences, Vol 22, Iss 12274, p 12274 (2021)
VPS13 proteins are evolutionarily conserved. Mutations in the four human genes (VPS13A-D) encoding VPS13A-D proteins are linked to developmental or neurodegenerative diseases. The relationship between the specific localization of individual VPS13 pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::854fc475d8fa77319cb8636ce664d5ec
Autor:
Teresa Zoladek, Jean-Paul di Rago, Piotr Soczewka, Déborah Tribouillard-Tanvier, Joanna Kaminska
Publikováno v:
International Journal of Molecular Sciences
Volume 22
Issue 5
International Journal of Molecular Sciences, Vol 22, Iss 2248, p 2248 (2021)
Volume 22
Issue 5
International Journal of Molecular Sciences, Vol 22, Iss 2248, p 2248 (2021)
Ion homeostasis is crucial for organism functioning, and its alterations may cause diseases. For example, copper insufficiency and overload are associated with Menkes and Wilson’s diseases, respectively, and iron imbalance is observed in Parkinson
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cefea950e043b8270d06954040844f1