Bernardino Francesco Ghetti

This study shows that primary neurons can propagate Alzheimer's disease paired helical filaments and that tau filament folds determine inclusion morphologies.

The paper reports the structures of α-synuclein filaments from individuals with Parkinson's disease and dementia, revealing differences in dimerisation and twist reversal between pathogenic and non-pathogenic variants.

This study shows TDP-43 filaments accumulate at synapses, causing presynaptic dysfunction and neuronal hyperexcitability in neurodegenerative diseases.

This study identifies distinct TAF15 amyloid filament structures in different FTLD-FET subtypes, leading to the renaming of the disease group as FTLD-TAF15.

This study investigates tau filament assembly using mutant recombinant tau and brain homogenates, finding that specific mutations produce filaments resembling AD pathology.

The paper reports cryo-EM structures of tau filaments from individuals with P301L and P301T MAPT mutations, revealing distinct filament folds associated with FTDP-17.

This study identifies genetic risk factors for FTLD-TDP subtypes using whole-genome sequencing and meta-analysis across multiple cohorts.

The paper determines the structures of tau filaments in individuals with MAPT mutations V337M and R406W using cryo-EM, finding the Alzheimer fold in all cases and a new triple filament assembly.

This study identifies heteromeric amyloid filaments composed of ANXA11 and TDP-43 in FTLD-TDP Type C using cryo-EM, revealing a new pathological mechanism.

This study uses whole-genome sequencing to identify new genetic loci and structural variants associated with progressive supranuclear palsy, including novel signals in APOE and H1/H2 haplotype region variants.

The paper determines cryo-EM structures of Aβ40 filaments from Alzheimer's and cerebral amyloid angiopathy samples, revealing structural differences at higher resolution.

The paper uses cryo-EM to study tau filaments from Alzheimer's and CTE cases with and without flortaucipir, finding binding only in CTE Type I filaments.

The paper presents a high-quality quantitative proteomics dataset for Alzheimer's disease, including samples from different brain regions and clinical groups.

The paper determines that tau and TMEM106B filaments from gray and white matter in MSTD have identical folds.

The paper reports cryo-EM structures of amyloid-beta filaments with the Arctic mutation from human and mouse brains, revealing structural differences and conformational changes.

The paper identifies a SNCA mutation causing juvenile-onset synucleinopathy and describes the structural features of α-synuclein filaments associated with the disease.

The paper reports cryo-EM structures of α-synuclein filaments from Parkinson's disease, PD dementia, and dementia with Lewy bodies, showing they are composed of a single protofilament distinct from those in multiple system atrophy.

This study identifies blood-based biomarkers associated with Alzheimer's disease genetic risk variants in a large cohort of healthy adults, showing effects from early adulthood and sex-specific patterns.

This study identifies age-dependent formation of TMEM106B amyloid filaments in human brains using cryo-EM, showing they appear in older individuals but not younger ones.

Cryo-EM shows brain-derived Aβ42 filaments adopt two related S-shaped protofilament folds: Type I dominates sporadic Alzheimer's, Type II familial Alzheimer's, other disorders and App^NL-F knock-in mice.

The paper identifies isomerization of Asp387 in tau as a marker of reduced autophagic flux in Alzheimer's disease using mass spectrometry analysis of brain tissue.

Cryo-EM structures sort four-repeat tauopathies into three-layered (PSP, GGT, LNT) and four-layered (CBD, AGD, ARTAG, MAPT intron 10 mutations) tau folds, grounding a hierarchical structure-based classification.

The paper shows that microglia phagocytosing neurons with tau aggregates become hypofunctional and release tau seeds, contributing to tauopathy progression.

The paper identifies LRRK2-regulated pathways for extracellular tau uptake in human neurons using CRISPR screens, showing LRRK2's role in monomeric tau endocytosis.

This paper identifies five new genetic risk loci for Lewy body dementia through whole-genome sequencing and shows shared risk profiles with Alzheimer’s and Parkinson’s disease.

This study determines the structure of α-synuclein filaments in multiple system atrophy using cryo-EM, revealing distinct filament types and conformers that differ from in vitro assemblies.

This paper reports the structure of tau filaments in corticobasal degeneration using cryo-EM, revealing a novel four-layered fold distinct from other tauopathies.

The paper determines the structure of tau filaments in Alzheimer's disease cases and finds they adopt a common fold across individuals.