Natalia Smolina
Overview
Explore the profile of Natalia Smolina including associated specialties, affiliations and a list of published articles.
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24
Citations
287
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Recent Articles
1.
Turkdogan D, Smolina N, Tekgul S, Gul T, Yesilyurt A, Houlden H, et al.
Mov Disord
. 2024 Dec;
40(2):370-375.
PMID: 39704271
Background: ATX-FGF/SCA27A has been exclusively associated with heterozygous variants in the FGF14 gene, presenting with postural tremor, slowly progressive cerebellar ataxia, and psychiatric and behavioral disturbances. Objectives: This study describes...
2.
Tunca C, Islek Camadan E, Smolina N, Palvadeau R, Oztop Cakmak O, Vural A, et al.
Mov Disord
. 2024 Sep;
39(12):2291-2297.
PMID: 39314081
Background: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a common recessive ataxia that is still underdiagnosed worldwide. An easily accessible diagnostic biomarker might help to diagnostically confirm patients presenting...
3.
Smolina N, Khudiakov A, Kostareva A
Methods Mol Biol
. 2023 May;
2644:3-14.
PMID: 37142912
Mitochondrial respiration is an essential component of cellular metabolism. It is a process of energy conversion through enzymatically mediated reactions, the energy of taken-up substrates transformed to the ATP production....
4.
Ignatieva E, Smolina N, Kostareva A, Dmitrieva R
Int J Mol Sci
. 2021 Jul;
22(14).
PMID: 34298968
Mitochondrial dysfunction is considered the major contributor to skeletal muscle wasting in different conditions. Genetically determined neuromuscular disorders occur as a result of mutations in the structural proteins of striated...
5.
Kovalchuk T, Yakovleva E, Fetisova S, Vershinina T, Lebedeva V, Lyubimtseva T, et al.
Front Cardiovasc Med
. 2021 May;
8:668231.
PMID: 34026875
Emery-Dreifuss muscular dystrophy (EDMD) is inherited muscle dystrophy often accompanied by cardiac abnormalities in the form of supraventricular arrhythmias, conduction defects and sinus node dysfunction. Cardiac phenotype typically arises years...
6.
Vakhrushev Y, Kozyreva A, Semenov A, Sokolnikova P, Lubimtseva T, Lebedev D, et al.
Genes (Basel)
. 2021 Jan;
12(1).
PMID: 33450993
(RNA-binding motif protein 20) is a splicing factor targeting multiple cardiac genes, and its mutations cause cardiomyopathies. Originally, mutations were discovered to cause the development of dilated cardiomyopathy by erroneous...
7.
Stocco A, Smolina N, Sabatelli P, Sileikyte J, Artusi E, Mouly V, et al.
Pharmacol Res
. 2021 Jan;
165:105421.
PMID: 33429034
High-throughput screening identified isoxazoles as potent but metabolically unstable inhibitors of the mitochondrial permeability transition pore (PTP). Here we have studied the effects of a metabolically stable triazole analog, TR001,...
8.
Khudiakov A, Zaytseva A, Perepelina K, Smolina N, Pervunina T, Vasichkina E, et al.
Biochim Biophys Acta Mol Basis Dis
. 2020 Aug;
1866(11):165915.
PMID: 32768677
Background: Mutations in desmosomal genes linked to arrhythmogenic cardiomyopathy are commonly associated with Wnt/β-catenin signaling abnormalities and reduction of the sodium current density. Inhibitors of GSK3B were reported to restore...
9.
Cimiotti D, Fujita-Becker S, Mohner D, Smolina N, Budde H, Wies A, et al.
PLoS One
. 2020 Mar;
15(3):e0229227.
PMID: 32182250
TNNI3 encoding cTnI, the inhibitory subunit of the troponin complex, is the main target for mutations leading to restrictive cardiomyopathy (RCM). Here we investigate two cTnI-R170G/W amino acid replacements, identified...
10.
Smolina N, Khudiakov A, Knyazeva A, Zlotina A, Sukhareva K, Kondratov K, et al.
Biochim Biophys Acta Mol Basis Dis
. 2020 Feb;
1866(6):165745.
PMID: 32105824
Desmin, being a major intermediate filament of muscle cells, contributes to stabilization and positioning of mitochondria. Desmin mutations have been reported in conjunction with skeletal myopathies accompanied by mitochondrial dysfunction....