Pawel M Switonski
Overview
Explore the profile of Pawel M Switonski including associated specialties, affiliations and a list of published articles.
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Articles
18
Citations
294
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Recent Articles
1.
Bartelt L, Switonski P, Adamek G, Longo F, Carvalho J, Duvick L, et al.
Sci Transl Med
. 2024 Nov;
16(772):eadn5449.
PMID: 39504355
Spinocerebellar ataxia type 7 (SCA7) is a genetic neurodegenerative disorder caused by a CAG-polyglutamine repeat expansion. Purkinje cells (PCs) are central to the pathology of ataxias, but their low abundance...
2.
Bartelt L, Fakhri M, Adamek G, Trybus M, Samelak-Czajka A, Jackowiak P, et al.
Cell Rep Methods
. 2024 Jul;
4(7):100816.
PMID: 38981474
We developed a method that utilizes fluorescent labeling of nuclear envelopes alongside cytometry sorting for the selective isolation of Purkinje cell (PC) nuclei. Beginning with SUN1 reporter mice, we GFP-tagged...
3.
Bartelt L, Switonski P, Adamek G, Carvalho J, Duvick L, Jarrah S, et al.
bioRxiv
. 2023 May;
PMID: 37214832
Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disorder caused by a CAG-polyglutamine repeat expansion. SCA7 patients display a striking loss of Purkinje cell (PC) neurons with disease progression;...
4.
Joachimiak P, Ciesiolka A, Kozlowska E, Switonski P, Figura G, Ciolak A, et al.
BMC Biol
. 2023 Feb;
21(1):17.
PMID: 36726088
Background: The majority of genes in the human genome is present in two copies but the expression levels of both alleles is not equal. Allelic imbalance is an aspect of...
5.
Switonski P, Delaney J, Bartelt L, Niu C, Ramos-Zapatero M, Spann N, et al.
Cell Rep
. 2021 Dec;
37(9):110062.
PMID: 34852229
A common mechanism in inherited ataxia is a vulnerability of DNA damage. Spinocerebellar ataxia type 7 (SCA7) is a CAG-polyglutamine-repeat disorder characterized by cerebellar and retinal degeneration. Polyglutamine-expanded ataxin-7 protein...
6.
Fusco A, Pucci L, Switonski P, Biswas D, McCall A, Kahn A, et al.
Dis Model Mech
. 2021 Jun;
14(7).
PMID: 34160002
Spinocerebellar ataxia type 7 (SCA7) is an autosomal-dominant neurodegenerative disorder caused by a CAG repeat expansion in the coding region of the ataxin-7 gene. Infantile-onset SCA7 patients display extremely large...
7.
Stoyas C, Bushart D, Switonski P, Ward J, Alaghatta A, Tang M, et al.
Neuron
. 2019 Dec;
105(4):630-644.e9.
PMID: 31859031
Sirtuin 1 (Sirt1) is a NAD-dependent deacetylase capable of countering age-related neurodegeneration, but the basis of Sirt1 neuroprotection remains elusive. Spinocerebellar ataxia type 7 (SCA7) is an inherited CAG-polyglutamine repeat...
8.
Ortell K, Switonski P, Delaney J
J Biol Methods
. 2019 Oct;
6(3):e118.
PMID: 31583263
High-impact journals are promoting transparency of data. Modern scientific methods can be automated and produce disparate samples sizes. In many cases, it is desirable to retain identical or pre-defined sample...
9.
Ward J, Stoyas C, Switonski P, Ichou F, Fan W, Collins B, et al.
Cell Rep
. 2019 Jan;
26(5):1189-1202.e6.
PMID: 30699348
Spinocerebellar ataxia type 7 (SCA7) is a retinal-cerebellar degenerative disorder caused by CAG-polyglutamine (polyQ) repeat expansions in the ataxin-7 gene. As many SCA7 clinical phenotypes occur in mitochondrial disorders, and...
10.
Jaworska E, Kozlowska E, Switonski P, Krzyzosiak W
Cell Mol Life Sci
. 2016 Jun;
73(21):4085-100.
PMID: 27261369
A number of human genetic disorders, including Huntington's disease, myotonic dystrophy type 1, C9ORF72 form of amyotrophic lateral sclerosis and several spinocerebellar ataxias, are caused by the expansion of various...