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Journal Abstract Search

504 related items for PubMed ID: 31197681

  • 1.
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  • 2. Patient-Specific iPSC-Derived Neural Differentiated and Hepatocyte-like Cells, Carrying the Compound Heterozygous Mutation p.V1023Sfs*15/p.G992R, Present the "Variant" Biochemical Phenotype of Niemann-Pick Type C1 Disease.
    Völkner C, Liedtke M, Untucht R, Hermann A, Frech MJ.
    Int J Mol Sci; 2021 Nov 10; 22(22):. PubMed ID: 34830064
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  • 3. Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients.
    Degtyareva AV, Proshlyakova TY, Gautier MS, Degtyarev DN, Kamenets EA, Baydakova GV, Rebrikov DV, Zakharova EY.
    BMC Med Genet; 2019 Jul 11; 20(1):123. PubMed ID: 31296176
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  • 4. Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients.
    Hammerschmidt TG, de Oliveira Schmitt Ribas G, Saraiva-Pereira ML, Bonatto MP, Kessler RG, Souza FTS, Trapp F, Michelin-Tirelli K, Burin MG, Giugliani R, Vargas CR.
    Int J Dev Neurosci; 2018 May 11; 66():18-23. PubMed ID: 29197565
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  • 5. Molecular dynamics study with mutation shows that N-terminal domain structural re-orientation in Niemann-Pick type C1 is required for proper alignment of cholesterol transport.
    Yoon HJ, Jeong H, Lee HH, Jang S.
    J Neurochem; 2021 Mar 11; 156(6):967-978. PubMed ID: 32880929
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  • 7. Treatment trials in Niemann-Pick type C disease.
    Sitarska D, Tylki-Szymańska A, Ługowska A.
    Metab Brain Dis; 2021 Dec 11; 36(8):2215-2221. PubMed ID: 34596813
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  • 9. Targeting defective sphingosine kinase 1 in Niemann-Pick type C disease with an activator mitigates cholesterol accumulation.
    Newton J, Palladino END, Weigel C, Maceyka M, Gräler MH, Senkal CE, Enriz RD, Marvanova P, Jampilek J, Lima S, Milstien S, Spiegel S.
    J Biol Chem; 2020 Jul 03; 295(27):9121-9133. PubMed ID: 32385114
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  • 13. Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.
    Reunert J, Fobker M, Kannenberg F, Du Chesne I, Plate M, Wellhausen J, Rust S, Marquardt T.
    EBioMedicine; 2016 Feb 03; 4():170-5. PubMed ID: 26981555
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  • 15. Niemann-Pick disease type C.
    Vanier MT.
    Orphanet J Rare Dis; 2010 Jun 03; 5():16. PubMed ID: 20525256
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  • 16. Niemann-Pick type C disease: The atypical sphingolipidosis.
    Newton J, Milstien S, Spiegel S.
    Adv Biol Regul; 2018 Dec 03; 70():82-88. PubMed ID: 30205942
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  • 17. Niemann-Pick type C disease with a novel intronic mutation: three Turkish cases from the same family.
    Kılıç Yıldırım G, Yarar C, Şeker Yılmaz B, Ceylaner S.
    J Pediatr Endocrinol Metab; 2022 Apr 26; 35(4):535-541. PubMed ID: 34883004
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  • 18. Familial Alzheimer's disease associated with heterozygous NPC1 mutation.
    Lopergolo D, Bianchi S, Gallus GN, Locci S, Pucci B, Leoni V, Gasparini D, Tardelli E, Chincarini A, Sestini S, Santorelli FM, Zetterberg H, De Stefano N, Mignarri A.
    J Med Genet; 2024 Mar 21; 61(4):332-339. PubMed ID: 37989569
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  • 19. Mitochondrial GSH replenishment as a potential therapeutic approach for Niemann Pick type C disease.
    Torres S, Matías N, Baulies A, Nuñez S, Alarcon-Vila C, Martinez L, Nuño N, Fernandez A, Caballeria J, Levade T, Gonzalez-Franquesa A, Garcia-Rovés P, Balboa E, Zanlungo S, Fabrías G, Casas J, Enrich C, Garcia-Ruiz C, Fernández-Checa JC.
    Redox Biol; 2017 Apr 21; 11():60-72. PubMed ID: 27888692
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  • 20. Pre-mRNA splicing defects and RNA binding protein involvement in Niemann Pick type C disease.
    Paron F, Dardis A, Buratti E.
    J Biotechnol; 2020 Jul 20; 318():20-30. PubMed ID: 32387451
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