Yann Hérault

The paper examines how diet and genetic factors affect metabolomics and microbiota in a Down syndrome mouse model, identifying interactions that influence metabolic pathways.

This study investigates the effects of prenatal DYRK1A inhibition with Leucettine L41 in DS mouse models, showing lasting cognitive and gene expression improvements with model-specific outcomes.

This study evaluates the efficacy of 5IA in the Dp(16)1Yey mouse model of Down syndrome, finding improved motor coordination but no cognitive rescue, suggesting divergent pathophysiology compared to Ts65Dn models.

The paper compares skeletal phenotypes between two Down syndrome mouse models, Ts65Dn and Ts66Yah, using a novel PCA-based method to assess the impact of non-Hsa21 trisomic genes on bone structure and function.

This study establishes TTE reference ranges for mice, showing anesthesia significantly affects cardiac function, with minimal sex differences and modest age-related changes.

The paper describes a new behavior in female C57BL/6J mice where they emit specific ultrasonic vocalizations during urination, with stereotyped inter-USV intervals and increased locomotor activity.

This study shows that increased DYRK1A levels specifically impair presynaptic long-term potentiation in a mouse model, suggesting a role in memory precision.

This study shows that astroglial Ophn1 deficiency impairs synaptic transmission and behavior, with potential therapeutic targeting of the RhoA/ROCK pathway.

The paper analyzes 3,313 genetically engineered mouse lines to identify gene essentiality as the main factor affecting Cas9-based genome editing success.

This study identifies Ripply3 overdosage as a cause of mid-face shortening in Down syndrome models through Tbx1 downregulation during branchial arch development.

This study shows that Dyrk1a regulates interneuron migration via actomyosin dynamics, leading to cortical GABAergic system defects and phenotypes seen in DYRK1A-haploinsufficiency syndrome.

The paper shows increased DYRK1A dosage causes mitochondrial dysfunction and congenital heart defects in Down syndrome, which can be mitigated by a DYRK1A inhibitor.

Experiments across four laboratories found that arbaclofen rescued cognitive deficits in mouse models of 16p11.2 deletion, without sedation or significant off-target behavioral effects.

This study shows that AUTS2 gene dosage affects synaptic AMPA receptors through the AUTS2-TTC3-AKT-mTORC1 pathway, leading to behavioral and cognitive impairments in mice.

The paper introduces a new mouse model, Ts66Yah, for Down syndrome that replicates DS cognitive features and reveals genetic interactions between triplicated regions homologous to Hsa21 and unrelated regions.

This paper compares the Ts65Dn and Ts66Yah mouse models of Down syndrome, showing that trisomy of non-orthologous Mmu17 genes worsens the phenotype and may explain failed human therapy translations.

The paper identifies multiple genes at the 16p11.2 locus contributing to brain size and neuroanatomical phenotypes in mice, with MVP as a key driver, and shows its interaction with ERK in regulating brain morphology and behavior.

This study investigates the effects of Dyrk1a gene dosage in glutamatergic neurons on cognitive deficits in MRD7 and Down syndrome mouse models, finding specific roles in long-term explicit memory.

The paper reclassifies DYRK1A variants using an integrative approach, showing some previously reported pathogenic variants do not cause obvious phenotypes.

This study investigates the effect of Cstb duplication on amyloid-β pathology and cathepsin activity in a mouse model of Alzheimer's disease, finding no significant impact on Aβ levels or cathepsin activity.

The paper identifies developing interneurons as a potential target for autism genetic risk factors by analyzing human and rodent neural data.

The paper reports the generation of over 5,000 new mouse mutant strains for targeted genes, significantly expanding the available genetic resources for biomedical research.

This paper shows that BIN1 overexpression in mice leads to early structural and functional impairments in hippocampal pathways associated with Alzheimer's disease, independent of A-beta changes.

The paper outlines the protocol for the EarlyCause project, which investigates the biological mechanisms linking early-life stress to psycho-cardio-metabolic multi-morbidity using longitudinal data, animal models, and cellular systems.

The paper identifies six biological cascades involving key genes that alter behaviour and cognition in Down syndrome mouse models.

This study shows pioglitazone reduces excessive diacylglycerol signaling in Fmr1-KO mice, improving behavioral deficits associated with Fragile X syndrome.

The paper integrates gene essentiality data from human and mouse screens to classify genes into FUSIL categories, identifying developmental lethal genes associated with rare diseases.

The paper identifies protein-protein interactions on Chr21 linked to intellectual disabilities, autism, and Alzheimer's by analyzing yeast two-hybrid screens and synaptic localization.

The paper investigates how BOLA2 duplication in chromosome 16p11.2 affects iron homeostasis and anemia risk in autism patients, finding associations with anemia and iron deficiency.

The paper introduces a method called soft windowing to improve analysis of high-throughput phenotyping data by reducing false positives and increasing significant results.