Publications associées à The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery

Publications associées (11)

Tau accumulation in degradative organelles is associated to lysosomal stress

Neurodegenerative disorders are characterized by the brain deposition of insoluble amyloidogenic proteins, such as alpha-synuclein or Tau, and the concomitant deterioration of cell functions such as the autophagy-lysosomal pathway (ALP). The ALP is involve ...

Nature Portfolio2023

VPS35 and α-Synuclein fail to interact to modulate neurodegeneration in rodent models of Parkinson's disease

Elpida Tsika

BackgroundMutations in the vacuolar protein sorting 35 ortholog (VPS35) gene cause late-onset, autosomal dominant Parkinson's disease (PD), with a single missense mutation (Asp620Asn, D620N) known to segregate with disease in families with PD. The VPS35 ge ...

BMC2023

Stromal Notch ligands foster lymphopenia-driven functional plasticity and homeostatic proliferation of naive B cells

Freddy Radtke, Ute Koch

In lymphopenic environments, secondary lymphoid organs regulate the size of B and T cell compartments by supporting the homeostatic proliferation of mature lymphocytes. The molecular mechanisms underlying these responses and their functional consequences r ...

AMER SOC CLINICAL INVESTIGATION INC2022

FOXC2 controls adult lymphatic endothelial specialization, function, and gut lymphatic barrier preventing multiorgan failure

Mauro Delorenzi, Alexis Rapin, Dominique Velin

The mechanisms maintaining adult lymphatic vascular specialization throughout life and their role in coordinating inter-organ communication to sustain homeostasis remain elusive. We report that inactivation of the mechanosensitive transcription factor Foxc ...

AMER ASSOC ADVANCEMENT SCIENCE2021

Effects of water-soluble organic carbon on aerosol pH

Athanasios Nenes

Water-soluble organic carbon (WSOC) is a ubiquitous and significant fraction of fine particulate matter. Despite advances in aerosol thermodynamic equilibrium models, there is limited understanding on the comprehensive impacts of WSOC on aerosol acidity (p ...

Copernicus GmbH2019

Enhanced Rate of Acquisition of Point Mutations in Mouse Intestinal Adenomas Compared to Normal Tissue

Jörg Hülsken

The most prevalent single-nucleotide substitution (SNS) found in cancers is a C-to-T substitution in the CpG motif. It has been proposed that many of these SNSs arise during organismal aging, prior to transformation of a normal cell into a precancerous/can ...

2017

A System for In Vivo Imaging of Hepatic Free Fatty Acid Uptake

Elena Goun, Grigory Karateev

Alterations in hepatic free fatty acid (FFA) uptake and metabolism contribute to the development of prevalent liver disorders such as hepatosteatosis. However, detecting dynamic changes in FFA uptake by the liver in live model organisms has proven difficul ...

Elsevier2017

The Black cells phenotype is caused by a point mutation in the Drosophila pro-phenoloxidase 1 gene that triggers melanization and hematopoietic defects

Bruno Lemaitre, Maroun Bou Sleiman, Claudine Danielle Patricia Öngen, Olivier Binggeli

Melanization contributes to arthropod-specific innate immunity through deposition of melanin at wound sites or around parasites, with concomitant release of microbicidal reactive oxygen species. Melanization requires sequential activation of proteolytic en ...

Elsevier2015

Mitochondrial function in the brain links anxiety with social subordination

Maria del Carmen Sandi Perez, Carlos Canto Alvarez, Olivia Zanoletti, Fiona Hollis, Laura Lozano Montes

Dominance hierarchies are integral aspects of social groups, yet whether personality traits may predispose individuals to a particular rank remains unclear. Here we show that trait anxiety directly influences social dominance in male outbred rats and ident ...

National Academy of Sciences2015

The H50Q Mutation Enhances alpha-Synuclein Aggregation, Secretion, and Toxicity

Hilal Lashuel, Giovanni Dietler, Bruno Claude Daniel Fauvet, Francesco Simone Ruggeri, Anne-Laure Mahul Mellier, Abid Oueslati, Martial Mbefo Kamdem, Ossama Mohamed Salah El-Dien El-Sayed Ibrahim Khalaf, Filip Vercruysse

Over the last two decades, the identification of missense mutations in the alpha-synuclein (alpha-Syn) gene SNCA in families with inherited Parkinson disease (PD) has reinforced the central role of alpha-Syn in PD pathogenesis. Recently, a new missense mut ...

American Society for Biochemistry and Molecular Biology2014

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

Pierre Gönczy

Asymmetric cell division is essential for normal human brain development. Mutations in several genes encoding centrosomal proteins that participate in accurate cell division have been reported to cause autosomal recessive primary microcephaly (MCPH). By ho ...

Oxford University Press2014