Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Galina V. Baydakova"'
Autor:
Galina V. Baydakova, Polina G. Tsygankova, Natalia L. Pechatnikova, Olga A. Bazhanova, Yana D. Nazarenko, Ekaterina Y. Zakharova
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 3, p 48 (2023)
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiencies are rare fatal disorders of fatty acid β-oxidation with no apparent genotype–phenotype correlation. The measurement of acylcarnitines by
Externí odkaz:
https://doaj.org/article/3da0836b0bf74305b23b5110fcae18d9
Autor:
Alena E. Kopytova, George N. Rychkov, Alexander A. Cheblokov, Elena V. Grigor’eva, Mikhail A. Nikolaev, Elena S. Yarkova, Diana A. Sorogina, Farid M. Ibatullin, Galina V. Baydakova, Artem D. Izyumchenko, Daria A. Bogdanova, Vitali M. Boitsov, Akim V. Rybakov, Irina V. Miliukhina, Vadim A. Bezrukikh, Galina N. Salogub, Ekaterina Y. Zakharova, Sofya N. Pchelina, Anton K. Emelyanov
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 10, p 9105 (2023)
Mutations in the GBA1 gene, encoding the lysosomal enzyme glucocerebrosidase (GCase), cause Gaucher disease (GD) and are the most common genetic risk factor for Parkinson’s disease (PD). Pharmacological chaperones (PCs) are being developed as an al
Externí odkaz:
https://doaj.org/article/a540faae94864a4a873d0bc05f379f47
Autor:
Elena V. Grigor’eva, Alena E. Kopytova, Elena S. Yarkova, Sophia V. Pavlova, Diana A. Sorogina, Anastasia A. Malakhova, Tuyana B. Malankhanova, Galina V. Baydakova, Ekaterina Y. Zakharova, Sergey P. Medvedev, Sofia N. Pchelina, Suren M. Zakian
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 5, p 4437 (2023)
GBA variants increase the risk of Parkinson’s disease (PD) by 10 times. The GBA gene encodes the lysosomal enzyme glucocerebrosidase (GCase). The p.N370S substitution causes a violation of the enzyme conformation, which affects its stability in the
Externí odkaz:
https://doaj.org/article/365091594fc848809889675d20533582
Autor:
Anna V. Degtyareva, Tatiana Y. Proshlyakova, Marina S. Gautier, Dmitry N. Degtyarev, Elena A. Kamenets, Galina V. Baydakova, Denis V. Rebrikov, Ekaterina Y. Zakharova
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-8 (2019)
Abstract Background Niemann-Pick disease type C (NP-C) is an inherited neurodegenerative disease (1 per 100 000 newborns) caused by NPC proteins impairment that leads to unesterified cholesterol accumulation in late endosomal/lysosomal compartments.
Externí odkaz:
https://doaj.org/article/7f9ce25de2b4439ba7b2b06cab7e9b26
Autor:
Patryk Lipiński, Ladislav Kuchar, Ekaterina Y. Zakharova, Galina V. Baydakova, Agnieszka Ługowska, Anna Tylki-Szymańska
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)
Abstract Background Acid sphingomyelinase deficiency (ASMD), due to mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, is divided into infantile neurovisceral ASMD (Niemann-Pick type A), chronic neurovisceral ASMD (intermediate form, Ni
Externí odkaz:
https://doaj.org/article/010a2bdb5beb49bab4ae1f996dd3e4a7
Autor:
Sergey A. Klyushnikov, Tatiana Yu. Proshlyakova, Galina V. Baydakova, Evgenii P. Nuzhnyi, Natalya S. Nikolaeva, Zoya A. Goncharova, Neonila A. Fomina-Chertousova, Elena V. Degtereva, Victoria V. Chernikova, Kristina V. Gorshkova, Natalya S. Artemova, Larisa P. Shperling, Lyudmila N. Antipova, Olga Yu. Tsyplugina, Irina L. Ivanova, Lyubov V. Chepkasova, Sergey N. Illarioshkin
Publikováno v:
Анналы клинической и экспериментальной неврологии, Vol 12, Iss 4, Pp 37-46 (2018)
Introduction. NiemannPick type C disease (NPC) is a rare neurovisceral lysosomal storage disease with an autosomal recessie type of inheritance that develops as a result of abnormal intracellular transport of cholesterol and other lipids. The possibi
Externí odkaz:
https://doaj.org/article/1caa541c30b246db8df3ffc1350d6845
Autor:
Alisa A. Shaimardanova, Daria S. Chulpanova, Valeriya V. Solovyeva, Ekaterina E. Garanina, Ilnur I. Salafutdinov, Alexander Vladimirovich Laikov, Vadim V. Kursenko, Lisa Chakrabarti, Ekaterina Yu. Zakharova, Tatiana M. Bukina, Galina V. Baydakova, Albert Anatolyevich Rizvanov
Publikováno v:
Life, Vol 11, Iss 10, p 1007 (2021)
Tay-Sachs disease (TSD) is a progressive neurodegenerative disorder that occurs due to a deficiency of a β hexosaminidase A (HexA) enzyme, resulting in the accumulation of GM2 gangliosides. In this work, we analyzed the effect of umbilical cord bloo
Externí odkaz:
https://doaj.org/article/081f47a5b4b74e2ebf1cd22c85c1c8d1
Autor:
Nadezda V. Andrianova, Vasily A. Popkov, Natalia S. Klimenko, Alexander V. Tyakht, Galina V. Baydakova, Olga Y. Frolova, Ljubava D. Zorova, Irina B. Pevzner, Dmitry B. Zorov, Egor Y. Plotnikov
Publikováno v:
Metabolites, Vol 10, Iss 4, p 142 (2020)
Intestinal microbiota play a considerable role in the host’s organism, broadly affecting its organs and tissues. The kidney can also be the target of the microbiome and its metabolites (especially short-chain fatty acids), which can influence renal
Externí odkaz:
https://doaj.org/article/587252349b8b4d9ca875dfefaf108bbc
Autor:
Vladimir M. Kenis, Leonid V. Gorobets, Alena Yu. Dimitrieva, Alisa A. Zhmurova-Kriventsova, Igor O. Bychkov, Galina V. Baydakova, Tatiana V. Markova, Ekaterina Yu. Zakharova
Publikováno v:
Pediatric Traumatology, Orthopaedics and Reconstructive Surgery. 10:285-294
BACKROUND: Mucopolysaccharidoses are a group of lysosomal storage diseases belonging to orphan diseases. Certain types of mucopolysaccharides have a typical musculoskeletal findings and radiological changes. The mucopolysaccharidosis IVB is a rare ty
Autor:
Alena E. Kopytova, Tatiana S. Usenko, Galina V. Baydakova, Mikhail A. Nikolaev, Konstantin A. Senkevich, Artem D. Izyumchenko, Alexandr A. Tyurin, Irina V. Miliukhina, Anton K. Emelyanov, Ekaterina Y. Zakharova, Sofya N. Pchelina
Publikováno v:
Movement disorders : official journal of the Movement Disorder SocietyReferences. 37(8)