Protéasomopathies neurodéveloppementales: une nouvelle classe de maladies du neurodéveloppement causées par une dysfonction du protéasome
Le système ubiquitine-protéasome (UPS) est une voie conservée chez les eucaryotes qui
permet la dégradation, par les protéasomes, des protéines modifiées par l'ubiquitine …
permet la dégradation, par les protéasomes, des protéines modifiées par l'ubiquitine …
[HTML][HTML] Validation and standardization of a FRET-based whole-cell lysate RNase H2 activity assay
MS Schulz - 2024 - tud.qucosa.de
Abstract (DE) Ribonukleotid-Exzisionsreparatur ist ein RNase-H2-abhängiger DNA-
Reparaturmechanismus, der durch die Entfernung fälschlich eingebauter Ribonukleotide …
Reparaturmechanismus, der durch die Entfernung fälschlich eingebauter Ribonukleotide …
Disorders of Nucleic Acid Metabolism, tRNA Metabolism and Ribosomal Biogenesis
CR Ferreira, A Darling, J Vockley - Inborn Metabolic Diseases: Diagnosis …, 2022 - Springer
The central dogma codifies the three-quarters of a century-old recognition that genetic
information is vectoral, with transfer from DNA to protein through an RNA intermediate. The …
information is vectoral, with transfer from DNA to protein through an RNA intermediate. The …
Relapsing–remitting clinical course expands the phenotype of Aicardi–Goutières syndrome
Aicardi–Goutières syndrome (AGS) is a rare and likely underdiagnosed genetic
leukoencephalopathy, typically presenting in infancy with encephalopathy and characteristic …
leukoencephalopathy, typically presenting in infancy with encephalopathy and characteristic …
Terapia di precisione per malattie autoimmuni mediate da chinasi: sviluppo di un sistema in vitro per la diagnosi e il monitoraggio clinico.
S Braidotti - 2023 - arts.units.it
This project focuses on the JAK tyrosine kinase and their inhibitors, JAKi, and has the aim of
developing in vitro tools to personalize in oncohematological and autoimmune diseases …
developing in vitro tools to personalize in oncohematological and autoimmune diseases …
Caracterización fenotípica y genotípica de la leucodistrofia hipomielinizante asociada a POLR3 en la población mexicana
AE Esparza Chiquito - 2023 - bdigital.dgse.uaa.mx
Introducción: Las leucodistrofias son todas aquellas patologías que afectan la sustancia
blanca, del sistema nervioso central. Son enfermedades hereditarias que condicionan …
blanca, del sistema nervioso central. Son enfermedades hereditarias que condicionan …
Role of the Complement System in Cytokine-driven Neuroinflammation
H Bulen - 2023 - ses.library.usyd.edu.au
The cytokines interleukin-6 (IL-6) and interferon alpha (IFN-a) are vital mediators of innate
immunity. However, chronic overproduction of IL-6 or IFN-a in the central nervous system …
immunity. However, chronic overproduction of IL-6 or IFN-a in the central nervous system …
An AGS-associated mutation in ADAR1 catalytic domain causes early-onset and MDA5-dependent encephalopathy with IFN pathway activation in the brain
X Guo, RA Steinman, Y Sheng, G Chao, CA Wiley… - 2022 - researchsquare.com
Background: Aicardi-Goutières syndrome (AGS) is a severe autoimmune disease
characterized by inflammatory encephalopathy with an elevated Type 1 interferon …
characterized by inflammatory encephalopathy with an elevated Type 1 interferon …
Investigating the Genetic Architecture of Juvenile Onset Common Complex Diseases
MK Tordoff - 2022 - search.proquest.com
Background and aims: Juvenile idiopathic arthritis (JIA) encompasses a group of childhood
rheumatic diseases. JIA is contributed to by genetic and environmental risk factors. The …
rheumatic diseases. JIA is contributed to by genetic and environmental risk factors. The …
Autoinflammatory disorders
Autoinflammatory disorders are a broad spectrum of systemic disorders characterized by
aberrant activation of the innate immunity with various combinations of mainly …
aberrant activation of the innate immunity with various combinations of mainly …