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Journal Abstract Search

265 related items for PubMed ID: 30721447

  • 1. Rab18 Collaborates with Rab7 to Modulate Lysosomal and Autophagy Activities in the Nervous System: an Overlapping Mechanism for Warburg Micro Syndrome and Charcot-Marie-Tooth Neuropathy Type 2B.
    Nian FS, Li LL, Cheng CY, Wu PC, Lin YT, Tang CY, Ren BS, Tai CY, Fann MJ, Kao LS, Hong CJ, Tsai JW.
    Mol Neurobiol; 2019 Sep; 56(9):6095-6105. PubMed ID: 30721447
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  • 2. The Warburg Micro Syndrome-associated Rab3GAP-Rab18 module promotes autolysosome maturation through the Vps34 Complex I.
    Takáts S, Lévay L, Boda A, Tóth S, Simon-Vecsei Z, Rubics A, Varga Á, Lippai M, Lőrincz P, Glatz G, Juhász G.
    FEBS J; 2021 Jan; 288(1):190-211. PubMed ID: 32248620
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  • 3. RAB18, a protein associated with Warburg Micro syndrome, controls neuronal migration in the developing cerebral cortex.
    Wu Q, Sun X, Yue W, Lu T, Ruan Y, Chen T, Zhang D.
    Mol Brain; 2016 Feb 16; 9():19. PubMed ID: 26879639
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  • 4. ENU mutagenesis identifies mice modeling Warburg Micro Syndrome with sensory axon degeneration caused by a deletion in Rab18.
    Cheng CY, Wu JC, Tsai JW, Nian FS, Wu PC, Kao LS, Fann MJ, Tsai SJ, Liou YJ, Tai CY, Hong CJ.
    Exp Neurol; 2015 May 16; 267():143-51. PubMed ID: 25779931
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  • 7. Rab18: new insights into the function of an essential protein.
    Dejgaard SY, Presley JF.
    Cell Mol Life Sci; 2019 May 16; 76(10):1935-1945. PubMed ID: 30830238
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  • 9. Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.
    Liegel RP, Handley MT, Ronchetti A, Brown S, Langemeyer L, Linford A, Chang B, Morris-Rosendahl DJ, Carpanini S, Posmyk R, Harthill V, Sheridan E, Abdel-Salam GM, Terhal PA, Faravelli F, Accorsi P, Giordano L, Pinelli L, Hartmann B, Ebert AD, Barr FA, Aligianis IA, Sidjanin DJ.
    Am J Hum Genet; 2013 Dec 05; 93(6):1001-14. PubMed ID: 24239381
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  • 11. Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome.
    Arroyo-Carrera I, de Zaldívar Tristancho MS, Bermejo-Sánchez E, Martínez-Fernández ML, López-Lafuente A, MacDonald A, Zúñiga Á, Luis Gómez-Skarmeta J, Luisa Martínez-Frías M.
    Am J Med Genet A; 2015 Jun 05; 167(6):1243-51. PubMed ID: 25899426
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  • 17. RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes.
    Handley MT, Aligianis IA.
    Biochem Soc Trans; 2012 Dec 01; 40(6):1394-7. PubMed ID: 23176487
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  • 18. Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.
    Picker-Minh S, Busche A, Hartmann B, Spors B, Klopocki E, Hübner C, Horn D, Kaindl AM.
    Orphanet J Rare Dis; 2014 Oct 21; 9():113. PubMed ID: 25332050
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  • 19. Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights.
    Abdel-Hamid MS, Abdel-Ghafar SF, Ismail SR, Desouky LM, Issa MY, Effat LK, Zaki MS.
    Clin Genet; 2020 Nov 21; 98(5):445-456. PubMed ID: 32740904
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  • 20. Rab7 and the CMT2B disease.
    Cogli L, Piro F, Bucci C.
    Biochem Soc Trans; 2009 Oct 21; 37(Pt 5):1027-31. PubMed ID: 19754445
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