Concept
Missense mutation
Related publications (92)
The role of LRRK2 in lung adenocarcinoma
Lung cancer is the leading cause of cancer-related deaths worldwide and the most commonlung cancer subtype is lung adenocarcinoma (LUAD). Frequently mutated genes involveactivating mutations in KRAS and loss of function mutations in TP53. LUADs primarily a ...
EPFL2024Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles
Giovanna Ambrosini, Nicolas Jean Philippe Guex, Christian Iseli
Background: We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney,caused by de novo variants in the degron of AFF3. Mouse knock-ins and overexpre ...
BMC2024A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy
GEMIN5 is a multifunctional RNA-binding protein required for the assembly of survival motor neurons. Several bi-allelic truncating and missense variants in this gene are reported to cause a neurodevelopmental disorder characterized by cerebellar atrophy, i ...
2023Dynamics of the most common pathogenic mtDNA variant m.3243A > G demonstrate frequency-dependency in blood and positive selection in the germline
The A-to-G point mutation at position 3243 in the human mitochondrial genome (m.3243A > G) is the most common pathogenic mtDNA variant responsible for disease in humans. It is widely accepted that m.3243A > G levels decrease in blood with age, and an age c ...
OXFORD UNIV PRESS2022Astrocyte-targeting RNA interference against mutated superoxide dismutase 1 induces motoneuron plasticity and protects fast-fatigable motor units in a mouse model of amyotrophic lateral sclerosis
Patrick Aebischer, Bernard Schneider, Nathalie Marie Géraldine Bernard, Cylia Cloé Rochat
In amyotrophic lateral sclerosis (ALS) caused by SOD1 gene mutations, both cell-autonomous and noncell-autonomous mechanisms lead to the selective degeneration of motoneurons (MN). Here, we evaluate the therapeutic potential of gene therapy targeting mutat ...
WILEY2022Disentangle genus microdiversity within a complex microbial community by using a multi-distance long-read binning method: example of Candidatus Accumulibacter
Christof Holliger, Julien Maillard, Aline Sondra Adler, Marco Pagni, Simon Marius Jean Poirier
Complete genomes can be recovered from metagenomes by assembling and binning DNA sequences into metagenome assembled genomes (MAGs). Yet, the presence of microdiversity can hamper the assembly and binning processes, possibly yielding chimeric, highly fragm ...
WILEY2022Endoplasmic Reticulum and Lysosomal Quality Control of Four Nonsense Mutants of Iduronate 2-Sulfatase Linked to Hunter's Syndrome
Maurizio Molinari, Andrea Cavalli
Hunter's syndrome (mucopolysaccharidosis type II) is a rare X-linked lysosomal storage disorder caused by mutations in the iduronate-2-sulfatase (IDS) gene. Motivated by the case of a child affected by this syndrome, we compared the intracellular fate of w ...
2020Structural mechanism of cGAS inhibition by the nucleosome
Rudolf Hovius, Beat Fierz, Andrea Ablasser, Baptiste Claude André Guey, Alexiane Clara Decout, Pauline Ambre Melenec, Simone Cavadini, Kristina Makasheva, Sélène-Véronique Glück
The DNA sensor cGAS initiates innate immune responses following microbial infection, cellular stress, and cancer1. Upon activation by double-stranded DNA, cytosolic cGAS produces 2’3’ cyclic GMP-AMP and triggers inflammatory cytokine and type I interferon ...
2020Direct coupling analysis of epistasis in allosteric materials
Matthieu Wyart, Carolina Brito Carvalho dos Santos, Riccardo Ravasio, Barbara Bravi
In allosteric proteins, the binding of a ligand modifies function at a distant active site. Such allosteric pathways can be used as target for drug design, generating considerable interest in inferring them from sequence alignment data. Currently, differen ...
2020Somatic Mitochondrial DNA Point Mutations Used as Biomarkers to Demonstrate Genomic Heterogeneity in Primary Prostate Cancer
Paul Refinetti, Per Olaf Ekstrom
Primary prostate tumor heterogeneity is poorly understood, leaving research efforts with challenges regarding the initiation and advancement of the disease. The growth of tumor cells is accompanied by mutations in nuclear and in mitochondrial genomes. Thus ...
HINDAWI LTD2020