Results 61 to 70 of about 5,400 (185)

A motor function for the DEAD-box RNA helicase, Gemin3, in Drosophila.

PLoS Genetics, 2008
The survival motor neuron (SMN) protein, the determining factor for spinal muscular atrophy (SMA), is complexed with a group of proteins in human cells. Gemin3 is the only RNA helicase in the SMN complex.
Ruben J Cauchi, Kay E Davies, Ji-Long Liu   +2 more
doaj   +1 more source

Finding novel vulnerabilities of hypomorphic BRCA1 alleles

Molecular Oncology, EarlyView.
Synthetic lethality screens performed to identify novel vulnerabilities often model complete gene loss, thereby overlooking patient‐derived hypomorphic mutations. In this study, we have performed genome‐wide CRISPR screens on BRCA1 hypomorphic mutations, showing BRCA1I26A behaves like wild‐type, while BRCA1R1699Q mimics deficiency. Furthermore, we have
Anne Schreuder, Klaas de Lint, Hồ Mỹ Phúc Võ, Mariana M. Góis, Rosalie A. Kampen, Marta San Martin Alonso, Ilse Nootenboom, Veronica Garzero, Tiemen J. Wendel, Rob M. F. Wolthuis, Sylvie M. Noordermeer   +10 more
wiley   +1 more source

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Status and future of recombinant adeno‐associated virus vector manufacturing

Biotechnology Progress, EarlyView.
Abstract Sixty years of adeno‐associated virus (AAV) research illustrates a trajectory marked by basic science exploration, iterative innovation, persistent challenges, a number of clinical setbacks, as well as commercial therapeutic triumphs. This continual evolution has led to recombinant AAV (rAAV) becoming a cornerstone of modern gene therapy ...
Frank Agbogbo, David Dismuke
wiley   +1 more source

Gamma SARS‐CoV‐2 variant of concern infection repercussions on pregnancy outcomes: A translational cohort study

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective This study conduct viral genome sequencing among severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2)‐infected pregnant and postpartum individuals, and investigates disease severity and maternal and perinatal outcomes considering variant of concern (VOC) and non‐VOC groups.
Guilherme M. Nobrega, Fabiana Granja, Mariene R. Amorim, Luciana S. Mofatto, Daniel A. Toledo‐Teixeira, Julia Forato, Priscilla P. Barbosa, Jose Paulo S. Guida, Adriana G. Luz, Giuliane J. Lajos, Carolina C. Ribeiro‐do‐Valle, Gisele A. Pedroso, Kamila C. S. Krywacz, Angelica Z. Schreiber, Giuliana D. Moreno, Rodrigo N. Angerami, Maria Luiza Moretti, Rodolfo C. Pacagnella, Renato T. Souza, Jose Guilherme Cecatti, Rodrigo G. Stabeli, Magnun N. N. Santos, Fernando R. Spilki, Ester C. Sabino, Nuno R. Faria, William M. de Souza, Jose Luiz Proenca‐Modena, Maria Laura Costa   +27 more
wiley   +1 more source

Complement C3 mediates adolescent social isolation‐induced hippocampal synaptic deficits and sex‐specific emotional dysfunction

Interdisciplinary Medicine, EarlyView.
Adolescent social isolation disrupts hippocampal function and exacerbates emotional symptoms, with sex‐specific patterns, as shown by human studies. In mice, social isolation decreased hippocampal synaptic density and calcium signaling, upregulated complement proteins, and activated complement‐mediated microglial synaptic phagocytosis.
Yuwan Qi, Siying Weng, Qiao Yin, Mengqi Li, Liang Shen, Enyou Qiao, Lu Gao, Yihan Wang, Yuxuan Li, Weifeng Luo, Qilin Zhang, Jing Wang, Jianfeng Feng, Qifei Cong   +13 more
wiley   +1 more source

Neuroprotective Effects of RNS60 in TDP‐43 Pathology‐Associated Amyotrophic Lateral Sclerosis

Muscle &Nerve, EarlyView.
ABSTRACT Introduction TDP‐43 pathology is broadly observed in the cerebral cortex of patients with amyotrophic lateral sclerosis (ALS). RNS60, an experimental treatment for acute ischemic stroke and ALS, enhanced mitochondrial biogenesis and function in other preclinical models.
Danny R. Vesevick, Supurna Ghosh, Andreas Kalmes, P. Hande Ozdinler, Mukesh Gautam   +4 more
wiley   +1 more source

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source

Ethics and equity in access to disease‐modifying therapies and newborn screening for spinal muscular atrophy: A scoping review

Developmental Medicine &Child Neurology, EarlyView.
Outcomes of children with cerebral palsy receiving long‐term respiratory support. Aim To review barriers to ethical and equitable access to disease‐modifying therapies (DMTs) and newborn screening (NBS) for spinal muscular atrophy (SMA). Method We searched PubMed, Scopus, Web of Science, EBSCOhost, the Cochrane Library, Google Scholar, and Primo for ...
Serini Murugasen, Mariana Kruger, Marc Blockman, Jo M. Wilmshurst   +3 more
wiley   +1 more source