Male Infertility Diagnosis: Improvement of Genetic Analysis Performance by the Introduction of Pre-Diagnostic Genes in a Next-Generation Sequencing Custom-Made Panel

Autor: Vincenza Precone, Rossella Cannarella, Stefano Paolacci, Gian Maria Busetto, Tommaso Beccari, Liborio Stuppia, Gerolamo Tonini, Alessandra Zulian, Giuseppe Marceddu, Aldo E. Calogero, Matteo Bertelli

Publikováno v: Frontiers in Endocrinology, Vol 11 (2021)

BackgroundInfertility affects about 7% of the general male population. The underlying cause of male infertility is undefined in about 50% of cases (idiopathic infertility). The number of genes involved in human spermatogenesis is over two thousand. T

Externí odkaz: https://doaj.org/article/7625043ece0147cb857e108bb71f840b

The Link of the Prion Protein with Ca2+ Metabolism and ROS Production, and the Possible Implication in Aβ Toxicity

Autor: Agnese De Mario, Caterina Peggion, Maria Lina Massimino, Rosa Pia Norante, Alessandra Zulian, Alessandro Bertoli, Maria Catia Sorgato

Publikováno v: International Journal of Molecular Sciences, Vol 20, Iss 18, p 4640 (2019)

The cellular prion protein (PrPC) is an ubiquitous cell surface protein mostly expressed in neurons, where it localizes to both pre- and post-synaptic membranes. PrPC aberrant conformers are the major components of mammalian prions, the infectious ag

Externí odkaz: https://doaj.org/article/81b711b48b5a435c844a829b8f844d1b

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

Transcriptomic Analysis of Single Isolated Myofibers Identifies miR-27a-3p and miR-142-3p as Regulators of Metabolism in Skeletal Muscle

Autor: Paolo Laveder, Alessandra Zulian, Andrea Armani, Paolo Martini, Gerolamo Lanfranchi, Lisa Buson, Marco Sandri, Francesca Grespi, Francesco Chemello, Paolo Bernardi, Camilla Bean, Graziano Guella, Enrico Alessio, Etienne Hebert-Chatelain, Ruggero Ferrazza, Stefano Cagnin, Carlo Reggiani, Chiara Romualdi, Luca Scorrano, Pasqua Cancellara, Martina Bazzega

Publikováno v: Cell Reports, Vol 26, Iss 13, Pp 3784-3797.e8 (2019)

Summary: Skeletal muscle is composed of different myofiber types that preferentially use glucose or lipids for ATP production. How fuel preference is regulated in these post-mitotic cells is largely unknown, making this issue a key question in the fi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::471c2693984cdb43ce26771362b121d5
http://www.sciencedirect.com/science/article/pii/S2211124719302918

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome

Autor: Carla Marinelli, Paolo Ferri, Leonardo Colombo, Alessandra Zulian, Luca Rossetti, Christina Zeitz, Isabelle Audo, Said El Shamieh, Alisia Costantini, Marcella Percio, Simone Bressan, Paolo Enrico Maltese, Matteo Bertelli, Sabrina Benedetti, Marco Castori, Andi Abeshi

Publikováno v: Investigative Ophthalmology & Visual Science
Investigative Ophthalmology & Visual Science, Association for Research in Vision and Ophthalmology, 2021, 62 (2), pp.13. ⟨10.1167/iovs.62.2.13⟩
Investigative Ophthalmology & Visual Science, 2021, 62 (2), pp.13. ⟨10.1167/iovs.62.2.13⟩

International audience; PURPOSE. To describe the molecular epidemiology of nonsyndromic retinitis pigmentosa (RP) and Usher syndrome (US) in Italian patients. METHODS. A total of 591 probands (315 with family history and 276 sporadics) were analyzed.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::514fa23487d0910518eefc385d8fd1fc
https://hal.sorbonne-universite.fr/hal-03142834/document