Eva Bagyinszky
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Explore the profile of Eva Bagyinszky including associated specialties, affiliations and a list of published articles.
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57
Citations
813
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Recent Articles
1.
Bagyinszky E, An S
Int J Mol Sci
. 2024 Nov;
25(22).
PMID: 39596030
Alzheimer's disease (AD) is a complex neurodegenerative disorder influenced by various genetic factors. In addition to the well-established amyloid precursor protein (), Presenilin-1 (), Presenilin-2 (), and apolipoprotein E (),...
2.
Yang Y, Bagyinszky E, An S
Int J Mol Sci
. 2024 Sep;
25(17).
PMID: 39273625
In this manuscript, a novel presenilin-2 (PSEN2) mutation, Val226Ala, was found in a 59-year-old Korean patient who exhibited rapid progressive memory dysfunction and hallucinations six months prior to her first...
3.
Bagyinszky E, An S
Int J Mol Sci
. 2024 Aug;
25(15).
PMID: 39125844
TNF-α-induced protein 3 (TNFAIP3), commonly referred to as A20, is an integral part of the ubiquitin-editing complex that significantly influences immune regulation, apoptosis, and the initiation of diverse immune responses....
4.
Bagyinszky E, Kim M, Park Y, An S, Kim S
Int J Mol Sci
. 2024 Jan;
25(1).
PMID: 38203287
A pathogenic mutation in presenilin-1 (), His214Asn, was found in a male patient with memory decline at the age of 41 in Korea for the first time. The proband patient...
5.
Kim D, Ryoo N, Park Y, Bagyinszky E, An S, Kim S
Curr Issues Mol Biol
. 2023 Dec;
45(12):9917-9925.
PMID: 38132465
Autosomal recessive spastic ataxia in Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder caused by mutations in the sacsin molecular chaperone protein () gene. Since the first report from Quebec in 1978,...
6.
Yang Y, Bagyinszky E, An S
Int J Mol Sci
. 2023 Oct;
24(20).
PMID: 37895139
In this manuscript, we introduced a French EOAD patient in Korea who carried the presenilin-1 () Glu318Gly mutations with four possible risk variants, including sortilin-related receptor 1 () Glu270Lys, ATP-binding...
7.
Bagyinszky E, Hulme J, An S
Cells
. 2023 Aug;
12(15).
PMID: 37566027
Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disease affecting the upper and lower motor neurons, leading to muscle weakness, motor impairments, disabilities and death. Approximately 5-10% of ALS cases...
8.
Yang Y, Bagyinszky E, An S
Int J Mol Sci
. 2023 May;
24(9).
PMID: 37176125
Presenilin 1 (PSEN1) is a part of the gamma secretase complex with several interacting substrates, including amyloid precursor protein (APP), Notch, adhesion proteins and beta catenin. PSEN1 has been extensively...
9.
Kim D, Shim K, Bagyinszky E, An S
Int J Mol Sci
. 2023 Jan;
24(1).
PMID: 36614069
Prion gene (PRNP) mutations are associated with diverse disease phenotypes, including familiar Creutzfeldt-Jakob Disease (CJD), Gerstmann-Sträussler-Scheinker disease (GSS), and fatal familial insomnia (FFI). Interestingly, PRNP mutations have been reported in...
10.
Yang Y, Bagyinszky E, An S, Kim S
Int J Mol Sci
. 2022 Nov;
23(21).
PMID: 36362122
Presenilin-2 (PSEN2) mutation Thr421Met was identified from a 57-years old patient with early onset Alzheimer's disease (EOAD) for the first time in Korea. Previously, this mutation was discovered in an...