2 deoxy-D-glucose augments the mitochondrial respiratory chain in heart

Autor: Irati Aiestaran-Zelaia, María Jesús Sánchez-Guisado, Marina Villar-Fernandez, Mikel Azkargorta, Lucia Fadon-Padilla, Uxoa Fernandez-Pelayo, Diego Perez-Rodriguez, Pedro Ramos-Cabrer, Antonella Spinazzola, Félix Elortza, Jésus Ruíz-Cabello, Ian J. Holt

Publikováno v: Scientific Reports, Vol 12, Iss 1, Pp 1-9 (2022)

Abstract 2-Deoxy-D-glucose (2DG) has recently received emergency approval for the treatment of COVID-19 in India, after a successful clinical trial. SARS-CoV-2 infection of cultured cells is accompanied by elevated glycolysis and decreased mitochondr

Externí odkaz: https://doaj.org/article/ae1a24df2d814342a7c743fdb2f02584

LETM1 couples mitochondrial DNA metabolism and nutrient preference

Autor: Romina Durigon, Alice L Mitchell, Aleck WE Jones, Andreea Manole, Mara Mennuni, Elizabeth MA Hirst, Henry Houlden, Giuseppe Maragni, Serena Lattante, Paolo Niccolo’ Doronzio, Ilaria Dalla Rosa, Marcella Zollino, Ian J Holt, Antonella Spinazzola

Publikováno v: EMBO Molecular Medicine, Vol 10, Iss 9, Pp 1-20 (2018)

Abstract The diverse clinical phenotypes of Wolf–Hirschhorn syndrome (WHS) are the result of haploinsufficiency of several genes, one of which, LETM1, encodes a protein of the mitochondrial inner membrane of uncertain function. Here, we show that L

Externí odkaz: https://doaj.org/article/1e9b97c05f204f27bc09bdacc3041823

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

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

Autor: Christopher M. Grochowski, Adam C. Gunning, Emma L. Baple, Romina Durigon, Tamar Harel, Carolyn Tysoe, James R. Lupski, Wan Hee Yoon, Ian Holt, Catherine Armstrong, Nayana Lahiri, Andrew Parrish, Vinod K. Misra, Ingrid Scurr, Robert W. Taylor, Caroline F. Wright, Uxoa Fernandez Pelayo, Karina Durlacher-Betzer, Klaudia Strucinska, Antonella Spinazzola, Julia Baptista, Tessa Homfray, Sian Ellard, Richard Caswell, Mikel Muñoz Oreja, John Dean, Mitchell H. Cunningham, Karen Stals, Aleck W.E. Jones

Publikováno v: American Journal of Human Genetics

Recent studies have identified both recessive and dominant forms of mitochondrial disease that result from ATAD3A variants. The recessive form includes subjects with biallelic deletions mediated by non-allelic homologous recombination. We report five

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc7e08bd2ff29f72586b79e1f8468ca5
http://europepmc.org/articles/PMC7010973

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