Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

Autor: Rauan Kaiyrzhanov, Sami E.M. Mohammed, Reza Maroofian, Ralf A. Husain, Alessia Catania, Alessandra Torraco, Ahmad Alahmad, Marina Dutra-Clarke, Sabine Grønborg, Annapurna Sudarsanam, Julie Vogt, Filippo Arrigoni, Julia Baptista, Shahzad Haider, René G. Feichtinger, Paolo Bernardi, Alessandra Zulian, Mirjana Gusic, Stephanie Efthymiou, Renkui Bai, Farah Bibi, Alejandro Horga, Julian A. Martinez-Agosto, Amanda Lam, Andreea Manole, Diego-Perez Rodriguez, Romina Durigon, Angela Pyle, Buthaina Albash, Carlo Dionisi-Vici, David Murphy, Diego Martinelli, Enrico Bugiardini, Katrina Allis, Costanza Lamperti, Siegfried Reipert, Lotte Risom, Lucia Laugwitz, Michela Di Nottia, Robert McFarland, Laura Vilarinho, Michael Hanna, Holger Prokisch, Johannes A. Mayr, Enrico Silvio Bertini, Daniele Ghezzi, Elsebet Østergaard, Saskia B. Wortmann, Rosalba Carrozzo, Tobias B. Haack, Robert W. Taylor, Antonella Spinazzola, Karin Nowikovsky, Henry Houlden

Publikováno v: Am. J. Hum. Genet. 109, 1692-1712 (2022)
Kaiyrzhanov, R, Mohammed, S E M, Maroofian, R, Husain, R A, Catania, A, Torraco, A, Alahmad, A, Dutra-Clarke, M, Grønborg, S, Sudarsanam, A, Vogt, J, Arrigoni, F, Baptista, J, Haider, S, Feichtinger, R G, Bernardi, P, Zulian, A, Gusic, M, Efthymiou, S, Bai, R, Bibi, F, Horga, A, Martinez-Agosto, J A, Lam, A, Manole, A, Rodriguez, D P, 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, J A, Bertini, E S, Ghezzi, D, Østergaard, E, Wortmann, S B, Carrozzo, R, Haack, T B, Taylor, R W, Spinazzola, A, Nowikovsky, K & Houlden, H 2022, ' Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement ', American Journal of Human Genetics, vol. 109, no. 9, pp. 1692-1712 . https://doi.org/10.1016/j.ajhg.2022.07.007
American Journal of Human Genetics, 109, 9, pp. 1692-1712
American Journal of Human Genetics, 109, 1692-1712

Leucine zipper-EF-hand containing transmembrane protein 1 (LETM1) encodes an inner mitochondrial membrane protein with an osmoregulatory function controlling mitochondrial volume and ion homeostasis. The putative association of LETM1 with a human dis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c3335fe5e93e6a1aab34ba05806a590
https://pubmed.ncbi.nlm.nih.gov/36055214

Bi-allelic LETM1 variants perturb mitochondrial cation homeostasis leading to a multisystemic mitochondrial disorder

Autor: Sami E.M. Mohammed, Rauan Kaiyrzhanov, Reza Maroofian, Antonella Spinazzola, Henry Houlden, Karin Nowikovsky

Publikováno v: Biochimica et Biophysica Acta (BBA) - Bioenergetics. 1863:148859

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6a44fd4a187d2d906f34cb0c14129b58
https://doi.org/10.1016/j.bbabio.2022.148859

Characterization of TMBIM5/MICS1 as the mammalian mitochondrial Ca2+/H+ exchanger

Autor: Sami E.M. Mohammed, Ronald Mekis, Shane Austin, Mariafrancesca Scalise, Christina Pfeiffer, Michele Galluccio, Wen-An Wang, Nicolas Demaurex, Cesare Indiveri, Karin Nowikovsky

Publikováno v: Biochimica et Biophysica Acta (BBA) - Bioenergetics. 1863:148729

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b9f185eecd143e086b3c36fb3e09057a
https://doi.org/10.1016/j.bbabio.2022.148729

Schistosomiasis as causative organism for chronic osteomyelitis. Case report

Autor: Barnaba, Jordan L.J., Medani E.M, Mohammed, Elbahri, Hassan M.H.

Publikováno v: In International Journal of Surgery Case Reports September 2022 98