Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Filipp Vasilev"'
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-15 (2023)
Abstract Vesicular transport driven by membrane trafficking systems conserved in eukaryotes is critical to cellular functionality and homeostasis. It is known that homotypic fusion and vacuole protein sorting (HOPS) and class C core endosomal vacuole
Externí odkaz:
https://doaj.org/article/6703949fcab6460597f984529490793f
Autor:
Viktoriia Sofronova, Elizaveta Gurinova, Diana Petukhova, Hiroko Fukamatsu, Takenobu Yamamoto, Yumi Aoyama, Polina Golikova, Gavril Moskvitin, Roza Ivanova, Mira Savvina, Filipp Vasilev, Takahito Moriwaki, Seigo Terawaki, Aitalina Sukhomyasova, Nadezhda Maksimova, Takanobu Otomo
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 6, p 5647 (2023)
We report a case of an eight-year-old boy with mucopolysaccharidosis (MPS) II with atypical skin lesions of hyperpigmented streaks along Blaschko’s lines. This case presented with mild symptoms of MPS such as hepatosplenomegaly, joint stiffness, an
Externí odkaz:
https://doaj.org/article/950173f72f3d4e30b17087bfebb27975
Autor:
Viktoriia Sofronova, Rina Iwata, Takuya Moriya, Kiunniai Loskutova, Elizaveta Gurinova, Mairanush Chernova, Anastasia Timofeeva, Anna Shvedova, Filipp Vasilev, Saina Novgorodova, Seigo Terawaki, Takahito Moriwaki, Aitalina Sukhomyasova, Nadezhda Maksimova, Takanobu Otomo
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 10, p 5851 (2022)
Mucopolysaccharidoses (MPS) are rare lysosomal storage disorders (LSD) characterized by the excessive accumulation of glycosaminoglycans (GAG). Conventional MPS, caused by inborn deficiencies of lysosomal enzymes involved in GAG degradation, display
Externí odkaz:
https://doaj.org/article/f3a4c6f4f5454b4f97a866a1737e0205
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 2, p 421 (2020)
Previously, we reported a novel disease of impaired glycosaminoglycans (GAGs) metabolism without deficiency of known lysosomal enzymes—mucopolysaccharidosis-plus syndrome (MPSPS). MPSPS, whose pathophysiology is not elucidated, is an autosomal rece
Externí odkaz:
https://doaj.org/article/d28416904f3e4961b2aee58e1d0e1100
Autor:
Leonid Zhozhikov, Aitalina Sukhomyasova, Elizaveta Gurinova, Anna Nogovicina, Filipp Vasilev, Nadezhda Maksimova
Publikováno v:
Clinical Genetics. 103:625-635
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c7442e020372d63bcb35b873251fa0c5
https://doi.org/10.1111/cge.14319
https://doi.org/10.1111/cge.14319
Publikováno v:
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 21, Iss 2, p 421 (2020)
International Journal of Molecular Sciences, Vol 21, Iss 2, p 421 (2020)
Previously, we reported a novel disease of impaired glycosaminoglycans (GAGs) metabolism without deficiency of known lysosomal enzymes—mucopolysaccharidosis-plus syndrome (MPSPS). MPSPS, whose pathophysiology is not elucidated, is an autosomal rece
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66399f3a28144530c52ba92d8f735d63
https://pubmed.ncbi.nlm.nih.gov/31936524
https://pubmed.ncbi.nlm.nih.gov/31936524