Skip to content
DraconiticResearch
Search Sources API
197,788 studies31 sourcesUpdated 34 min ago
Peer-reviewedCC BYFrontiers in cell and developmental biology

Sodium-dependent multivitamin transporter deficiency caused by novel SLC5A6 mutations: a clinical case and personalized mice model study

  • Anastasia V. Priymak1
  • Olga A. Averina1
  • Margarita A. Novikova1
  • Oleg A. Permyakov1
  • Svetlana A. Garmash1
  • Alexander Yu Rudenko1
  • Vlasta O. Bobrynina2
  • Alexander M. Mazur2
  • Artem V. Artiukhov1
  • Vasily A. Aleshin1
  • Olga A. Bazhanova3
  • Polina A. Zotova4
9 more authors
  • Mikhail O. Bortyazh1
  • Mariia A. Emelianova1
  • Olga O. Grigorieva1
  • Ekaterina A. Nikolaeva5
  • Vasily N. Manskikh1
  • Olga A. Dontsova1
  • Ekaterina Yu Zakharova3
  • Egor B. Prokhortchouk2
  • Petr V. Sergiev1
5 affiliations
  1. 1Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University , ,
  2. 2Genoanalytica Laboratory , ,
  3. 3Research Center for Medical Genetics , ,
  4. 4Faculty of Chemistry, Lomonosov Moscow State University , ,
  5. 5Research and Clinical Institute of Pediatrics Named After Yuri Veltischev, Pirogov Russian National Research Medical University of the Russian Ministry of Health , ,
Read full textPDFCite

Related

  1. Ligand identity and oncogenic mutations alter the oligomerization behavior of EGFR: insights from concentration-dependent brightness measurements
    Tanaya Roy, Kalina Hristova
    Journal of Biological ChemistryPeer-reviewedLicence not statedMolecular biology & gene regulationCrossref
  2. SIRT5 deficiency exacerbates sepsis acute renal injury by activating ACSL4/FTH1 axis dependent ferroptosis
    Liliang Jiang, Xi Yu, Guang Shan +5
    PLOS OnePeer-reviewedCC BY 4.0Full textGeneral biochemistryCell biologyPLOSPMC
  3. Modeled Oxidative Lesions Remodel the ABCB1 Linker: A Hypothesis for Transporter Regulation
    M. Hoseini, H. Abbasi
    bioRxivPreprintAll rights reservedFull textBiophysicsbioRxiv
  4. Step-by-Step Protocol for Fluorescence-Based Analysis of Uptake in Transporter-Expressing Xenopus laevis Oocytes
    Víctor de Prado Parralejo, Hussam H. Nour-Eldin, Christa Kanstrup
    Bio-protocolPeer-reviewedCC BY-NCFull textMolecular biology & gene regulationEurope PMC
  5. Structure Basis for Chloride Recognition and Transport by Human Kidney Brain Anion Transporter (KBAT)
    Yurou Wang, Tengyu Xie, Songyue Wu +5
    BiomoleculesPeer-reviewedCC BYFull textGeneral biochemistryEurope PMC

Cite

BibTeXRIS
BibTeX
@article{priymak2026sodiumdependent,
  title = {{Sodium-dependent multivitamin transporter deficiency caused by novel SLC5A6 mutations: a clinical case and personalized mice model study}},
  author = {Anastasia V. Priymak and Olga A. Averina and Margarita A. Novikova and Oleg A. Permyakov and Svetlana A. Garmash and Alexander Yu Rudenko and Vlasta O. Bobrynina and Alexander M. Mazur and Artem V. Artiukhov and Vasily A. Aleshin and Olga A. Bazhanova and Polina A. Zotova and Mikhail O. Bortyazh and Mariia A. Emelianova and Olga O. Grigorieva and Ekaterina A. Nikolaeva and Vasily N. Manskikh and Olga A. Dontsova and Ekaterina Yu Zakharova and Egor B. Prokhortchouk and Petr V. Sergiev},
  journal = {Frontiers in cell and developmental biology},
  year = {2026},
  month = oct,
  url = {https://europepmc.org/article/PMC/PMC13690556},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Sodium-dependent multivitamin transporter deficiency caused by novel SLC5A6 mutations: a clinical case and personalized mice model study
AU  - Anastasia V. Priymak
AU  - Olga A. Averina
AU  - Margarita A. Novikova
AU  - Oleg A. Permyakov
AU  - Svetlana A. Garmash
AU  - Alexander Yu Rudenko
AU  - Vlasta O. Bobrynina
AU  - Alexander M. Mazur
AU  - Artem V. Artiukhov
AU  - Vasily A. Aleshin
AU  - Olga A. Bazhanova
AU  - Polina A. Zotova
AU  - Mikhail O. Bortyazh
AU  - Mariia A. Emelianova
AU  - Olga O. Grigorieva
AU  - Ekaterina A. Nikolaeva
AU  - Vasily N. Manskikh
AU  - Olga A. Dontsova
AU  - Ekaterina Yu Zakharova
AU  - Egor B. Prokhortchouk
AU  - Petr V. Sergiev
PY  - 2026
DA  - 2026/10/24
JO  - Frontiers in cell and developmental biology
UR  - https://europepmc.org/article/PMC/PMC13690556
SN  - 2296-634X
ER  -