Jean‐Charles Lambert

This study identifies the rs28834970 variant in PTK2B as a risk factor for Alzheimer's disease, showing it impairs PYK2 function, increases Tau phosphorylation, and alters APP processing in human neuronal cultures.

This study links obesity and type 2 diabetes to Alzheimer's disease through genetic and transcriptomic analyses, identifying shared pathways and potential drug targets.

This paper develops a microfluidic co-culture model to study microglial synapse phagocytosis in AD, finding that APP microglia show enhanced synaptic uptake under inflammation.

This study shows that BIN1 isoform 1 expression in the presynaptic compartment causes synaptotoxicity, leading to synaptic loss and structural changes in Drosophila and rat models.

SURFBAT approximates transmission-disequilibrium tests using imputed haplotypes to detect genotype-phenotype associations while being robust to population stratification.

This paper presents the crystal structure of an APP/talin complex, proposing APP processing as a mechanical signalling pathway involved in synaptic homeostasis and suggesting a new hypothesis for Alzheimer's disease.

This study shows that PLCG2 downregulation impairs synaptic function and increases Alzheimer's disease-related markers in neurons.

The paper evaluates whether using a local reference panel improves imputation accuracy in French individuals compared to a public reference panel, showing benefits of combining both approaches.

The paper identifies high-priority missense variants in SORL1 associated with increased Alzheimer's Disease risk and earlier onset, suggesting clinical counseling considerations for carriers.

This study conducts the first GWAS on Alzheimer's disease in South American populations, identifying shared genetic risk factors with European populations.

This study performs a meta-analysis of GWAS to identify new genetic loci associated with all-cause and vascular dementia, revealing shared and distinct risk factors.

This study identifies genetic resilience factors for Alzheimer's disease by constructing polygenic resilience scores that reduce genetic risk penetrance and correlate with polygenic risk scores in unaffected individuals.

This study shows BIN1 regulates L-type calcium channels in neurons, affecting calcium homeostasis and electrical activity, and links these changes to Alzheimer's disease pathology.

This study shows that BIN1 isoform1 causes early endosome defects and neurodegeneration in Drosophila and human neurons, linking it to Alzheimer's disease pathology.

The paper identifies FERMT2 as a key modulator of axon guidance and synaptic plasticity in an APP-dependent manner, linking its genetic risk variant to Alzheimer's disease through miRNA regulation.

This paper reports six novel genetic variants associated with Alzheimer's disease risk and demonstrates the utility of polygenic risk scores for risk stratification and age at onset prediction.

The paper develops a microfluidic co-culture model to study Aβ1-42-induced synaptotoxicity and shows Pyk2 overexpression in postsynaptic neurons protects against it.

This study shows BIN1 overexpression rescues long-term memory deficits in Tau-overexpressing mice and identifies Thr348 phosphorylation as a key regulator of BIN1-Tau interaction.

This study identifies novel HPE genes and oligogenic inheritance patterns in holoprosencephaly by integrating clinical data with exome sequencing and gene prioritization.

This study identifies a haplotype lowering PU.1 expression in myeloid cells that delays Alzheimer’s disease onset by affecting gene expression and function.