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Journal Abstract Search

205 related items for PubMed ID: 36055214

  • 1. Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
    Kaiyrzhanov R, Mohammed SEM, Maroofian R, Husain RA, Catania A, Torraco A, Alahmad A, Dutra-Clarke M, Grønborg S, Sudarsanam A, Vogt J, Arrigoni F, Baptista J, Haider S, Feichtinger RG, Bernardi P, Zulian A, Gusic M, Efthymiou S, Bai R, Bibi F, Horga A, Martinez-Agosto JA, Lam A, Manole A, Rodriguez DP, Durigon R, Pyle A, Albash B, Dionisi-Vici C, Murphy D, Martinelli D, Bugiardini E, Allis K, Lamperti C, Reipert S, Risom L, Laugwitz L, Di Nottia M, McFarland R, Vilarinho L, Hanna M, Prokisch H, Mayr JA, Bertini ES, Ghezzi D, Østergaard E, Wortmann SB, Carrozzo R, Haack TB, Taylor RW, Spinazzola A, Nowikovsky K, Houlden H.
    Am J Hum Genet; 2022 Sep 01; 109(9):1692-1712. PubMed ID: 36055214
    [Abstract] [Full Text] [Related]

  • 2. LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein.
    Schlickum S, Moghekar A, Simpson JC, Steglich C, O'Brien RJ, Winterpacht A, Endele SU.
    Genomics; 2004 Feb 01; 83(2):254-61. PubMed ID: 14706454
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  • 3. LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability.
    Dimmer KS, Navoni F, Casarin A, Trevisson E, Endele S, Winterpacht A, Salviati L, Scorrano L.
    Hum Mol Genet; 2008 Jan 15; 17(2):201-14. PubMed ID: 17925330
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  • 4. LETM1: Essential for Mitochondrial Biology and Cation Homeostasis?
    Austin S, Nowikovsky K.
    Trends Biochem Sci; 2019 Aug 15; 44(8):648-658. PubMed ID: 31101453
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  • 5. The LETM1/YOL027 gene family encodes a factor of the mitochondrial K+ homeostasis with a potential role in the Wolf-Hirschhorn syndrome.
    Nowikovsky K, Froschauer EM, Zsurka G, Samaj J, Reipert S, Kolisek M, Wiesenberger G, Schweyen RJ.
    J Biol Chem; 2004 Jul 16; 279(29):30307-15. PubMed ID: 15138253
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  • 9. A Drosophila mutant of LETM1, a candidate gene for seizures in Wolf-Hirschhorn syndrome.
    McQuibban AG, Joza N, Megighian A, Scorzeto M, Zanini D, Reipert S, Richter C, Schweyen RJ, Nowikovsky K.
    Hum Mol Genet; 2010 Mar 15; 19(6):987-1000. PubMed ID: 20026556
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  • 11. Leucine zipper EF hand-containing transmembrane protein 1 (Letm1) and uncoupling proteins 2 and 3 (UCP2/3) contribute to two distinct mitochondrial Ca2+ uptake pathways.
    Waldeck-Weiermair M, Jean-Quartier C, Rost R, Khan MJ, Vishnu N, Bondarenko AI, Imamura H, Malli R, Graier WF.
    J Biol Chem; 2011 Aug 12; 286(32):28444-55. PubMed ID: 21613221
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  • 12. LETM1 is required for mitochondrial homeostasis and cellular viability (Review).
    Li Y, Tran Q, Shrestha R, Piao L, Park S, Park J, Park J.
    Mol Med Rep; 2019 May 12; 19(5):3367-3375. PubMed ID: 30896806
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  • 13. The leucine zipper EF-hand containing transmembrane protein-1 EF-hand is a tripartite calcium, temperature, and pH sensor.
    Lin QT, Lee R, Feng AL, Kim MS, Stathopulos PB.
    Protein Sci; 2021 Apr 12; 30(4):855-872. PubMed ID: 33576522
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  • 15. The mitochondrial inner membrane protein LETM1 modulates cristae organization through its LETM domain.
    Nakamura S, Matsui A, Akabane S, Tamura Y, Hatano A, Miyano Y, Omote H, Kajikawa M, Maenaka K, Moriyama Y, Endo T, Oka T.
    Commun Biol; 2020 Mar 05; 3(1):99. PubMed ID: 32139798
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  • 16. Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder.
    Zollino M, Orteschi D, Ruiter M, Pfundt R, Steindl K, Cafiero C, Ricciardi S, Contaldo I, Chieffo D, Ranalli D, Acquafondata C, Murdolo M, Marangi G, Asaro A, Battaglia D.
    Epilepsia; 2014 Jun 05; 55(6):849-57. PubMed ID: 24738919
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  • 19. Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L.
    Tamai S, Iida H, Yokota S, Sayano T, Kiguchiya S, Ishihara N, Hayashi J, Mihara K, Oka T.
    J Cell Sci; 2008 Aug 01; 121(Pt 15):2588-600. PubMed ID: 18628306
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  • 20. Functional reconstitution of the mitochondrial Ca2+/H+ antiporter Letm1.
    Tsai MF, Jiang D, Zhao L, Clapham D, Miller C.
    J Gen Physiol; 2014 Jan 01; 143(1):67-73. PubMed ID: 24344246
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