Zane Jaunmuktane

SniffCell assigns somatic variants to cell types using DNA methylation from bulk long-read sequencing, revealing cell-type-specific mutations in human tissues.

This study reports cryo-EM structures of tau filaments from MAPT mutants, showing how specific mutations alter the Pick fold structure and enable reconstitution of variants.

This study identifies pathogenic and intermediate repeat expansions in Parkinson's disease and parkinsonism across 11 ancestries, highlighting ATXN2's role in PD risk and ancestry-specific patterns.

This study identifies shared and distinct lipid profile changes in amygdala from sporadic and GBA-associated Parkinson's Disease, linking lipid metabolism to alpha-synuclein and glucocerebrosidase activity.

The paper uses spatial single-cell proteomics to analyze tangle-bearing neurons in Alzheimer's disease, revealing a continuum of proteomic changes associated with tau pathology.

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.

The paper introduces a fast segmentation tool for brain MRI scans using a hybrid method, achieving comparable accuracy to a Bayesian approach but with significantly reduced runtime.

The paper assesses the frequency of dystonia-linked pathogenic variants in Parkinson's disease patients and finds they are present in 0.57% of cases, with GCH1 being the most common gene affected.

This paper introduces ASA-PD, an imaging method to detect and map α-synuclein oligomers in Parkinson's disease brain tissue, revealing a specific subpopulation of nanoscale oligomers as an early hallmark of the disease.

This paper introduces a non-invasive imaging framework combining qMRI and SRT to infer molecular features in neurodegeneration.

The paper identifies splicing dysregulation in Parkinson's disease linked to TDP-43 loss of function and shows its association with genetic mutations and cellular models.

The paper investigates how the 17q21.31 locus influences Parkinson's disease through KANSL1 activity, showing haplotype-specific effects on key biological processes.

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 compares molecular and cellular signatures of Parkinson's disease and Parkinson's disease with dementia using single-nuclear transcriptomics, finding distinct gene expression patterns and biological pathways.

This study uses bulk and single nuclear RNA-sequencing to analyze transcriptomic changes in repeat expansion ataxias, revealing distinct non-neuronal cell type-specific disease signatures across the human brain.

The paper compares single-cell whole genome amplification methods and reference genomes for detecting somatic copy number variants in human brain tissue.

This study examines somatic instability of the FGF14 GAA·TTC repeat in SCA27B, finding a cerebellar-specific expansion bias and increased instability in cerebellar regions compared to other brain areas.

This study identifies six genetic loci associated with progressive supranuclear palsy, including a novel locus, and links them to oligodendrocytic dysfunction and C4A expression.

The paper introduces NextBrain, a probabilistic histological atlas of the human brain, and presents a tool for automated MRI segmentation of anatomical regions.

This study uses single-nuclei transcriptomics to identify dynamic gene signatures in prion diseases across species.

This paper introduces a computational pipeline to reconstruct 3D histology of the human brain using MRI and blockface photography to overcome tissue sectioning distortions.

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.

The paper identifies common LRRK2 locus variation associated with survival in progressive supranuclear palsy, linking it to gene expression regulation and suggesting therapeutic implications for tauopathies.

This study shows that amyloid β oligomers constrict human capillaries via pericyte signaling, reducing blood flow and contributing to Alzheimer’s disease pathology.

This study identifies RFVT gene mutations in BVVLS, shows mitochondrial dysfunction, and demonstrates therapeutic potential with riboflavin esters.