Type I interferon-mediated autoinflammation due to DNase II deficiency

Mathieu P. Rodero, Alessandra Tesser, Eva Bartok, +54

Nature Communications

Mutations in <i>COPA</i> lead to abnormal trafficking of STING to the Golgi and interferon signaling

Alice Lepelley, Maria José Martin-Niclós, Melvin Le Bihan, +29

The Journal of Experimental Medicine

Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling

Isabelle Melki, Y Rose, Carolina Uggenti, +23

Journal of Allergy and Clinical Immunology

Signal TransductionNovel RegionDisease-associated MutationsGeneticsPathogenesis +7

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

Carolina Uggenti, Alice Lepelley, Marine Depp, +53

Nature Genetics

ChromatinInborn ErrorsChromatin RemodelingGeneticsCgas-mediated Induction +8

The Analgesic Effect on Neuropathic Pain of Retrogradely Transported botulinum Neurotoxin A Involves Schwann Cells and Astrocytes

Sara Marinelli, Valentina Vacca, R. Ricordy, +4

PLoS ONE

Peripheral Nerve InjuryPain MedicineImmunologySchwann CellsNeuropathic Pain +19

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Emma M. Jenkinson, Mathieu P. Rodero, Paul R. Kasher, +62

Nature Genetics

Neurological DisorderGenetic DisorderPathologyDegenerative DiseaseCerebral Microangiopathy Leukoencephalopathy +3

PRIM1 deficiency causes a distinctive primordial dwarfism syndrome

David Parry, Lukas Tamayo-Orrego, Paula Carroll, +5

Genes & Development

The Plasma Membrane Calcium Pump in Pancreatic Cancer Cells Exhibiting the Warburg Effect Relies on Glycolytic ATP

Andrew D. James, Waseema Patel, Zohra Butt, +8

Journal of Biological Chemistry

A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection

Martin A.M. Reijns, Louise Thompson, Juan Carlos Acosta, +35

PLoS Biology

Commercial AssaysDiagnostic VirologyViral DiagnosticsMedicineDiagnostic Test +12

Anti-MDA5 juvenile idiopathic inflammatory myopathy: a specific subgroup defined by differentially enhanced interferon-α signalling

Isabelle Melki, H. Devilliers, Cyril Gitiaux, +31

Lara D. Veeken