Rickie Patani

Toxicity of MAPT 4R RNA Contributes to Motor Neuron Degeneration in ALS

The paper shows that increased 4R Tau RNA contributes to motor neuron degeneration in ALS by reducing viability and that targeting this RNA could be therapeutic.

Resolving context-specific protein-protein interactomes forbiological discovery and therapeutic target prioritisation

ProtScape learns context-specific protein interactomes across 200 cell types, improving interaction reconstruction and identifying disease-related mechanisms.

Topology-aware reconstruction of cellular state landscapes from microscopy using self-supervised learning

The paper introduces SI-SimCLR, a self-supervised learning framework for reconstructing cellular phenotypic landscapes from microscopy data without segmentation or annotation, revealing substate organization and connections in astrocytes.

Conserved Aberrant Developmental Trajectories of Human and Mouse SBMA Motor Neurons

This study identifies conserved transcriptional changes in motor neurons from human and mouse SBMA models, revealing shared dysregulation in pathways like spliceosome, cell cycle, and mitochondrial function across developmental and disease stages.

Mutations in PSEN1 predispose inflammation in an astrocyte model of familial Alzheimer's disease through disrupted regulated intramembrane proteolysis

This study shows that PSEN1 mutations disrupt regulated intramembrane proteolysis in astrocytes, leading to enhanced inflammatory responses and contributing to familial Alzheimer's disease progression.

Lysosomal stress induces amyloid-β aggregate release and reactive transformation in human astrocytes

This study shows human astrocytes generate and release amyloid-β aggregates under lysosomal stress, contributing to extracellular Aβ accumulation in Alzheimer's disease.

Astrocytic RNA editing regulates the host immune response to alpha-synuclein

The paper shows that astrocytic RNA editing via ADAR1 modulates immune responses to alpha-synuclein, contributing to neuroinflammation in Parkinson's disease.

m6a methylation orchestrates IMP1 regulation of microtubules during human neuronal differentiation

The paper shows m6A methylation guides IMP1's regulation of microtubule-related mRNAs during human neuronal differentiation.

Protein aggregation and calcium dysregulation are the earliest hallmarks of synucleinopathy in human midbrain dopaminergic neurons

This study uses hiPSCs with SNCA mutations to identify early molecular events in synucleinopathy, showing protein aggregation precedes functional impairments in midbrain dopaminergic neurons.

Genome-wide RNA binding analysis of C9orf72 poly(PR) dipeptides

The paper identifies genome-wide RNA binding sites of poly(PR) dipeptides and shows preferential binding to GAAGA-containing RNAs, suggesting a role in neurodegeneration.

Axonal length determines distinct homeostatic phenotypes in human iPSC derived motor neurons on a bioengineered platform

This study shows that axon length in human motor neurons affects their homeostatic mechanisms, revealing length-dependent molecular adaptations in cytoskeleton, translation, and mitochondria.

Image-based deep learning reveals the responses of human motor neurons to stress and ALS

This study uses image-based deep learning to uncover novel morphological changes in VCP-mutant human motor neurons under stress, revealing disease-relevant information from fluorescent markers.

Diminished miRNA activity is associated with aberrant cytoplasmic intron retention in ALS pathogenesis

The paper identifies cytoplasmic intron-retaining transcripts (IRTs) associated with miRNA activity changes in ALS, showing VCP mutations increase IR and target gene expression.

Highly enriched hiPSC-derived midbrain dopaminergic neurons robustly models Parkinson's disease.

This paper develops a method to generate highly enriched midbrain dopaminergic neurons from hiPSCs, which model Parkinson's disease features like synucleinopathy and mitochondrial dysfunction.

Automated and unbiased classification of motor neuron phenotypes with single cell resolution in ALS tissue.

The paper develops an automated image processing pipeline with machine learning to classify motor neuron phenotypes in ALS tissue at single-cell resolution, revealing common morphological aberrations and validating their discriminative power between ALS and healthy tissue.

An aberrant cytoplasmic intron retention programme is a blueprint for ALS-related RBP mislocalization

The paper identifies aberrant cytoplasmic intron-retaining transcripts (IRTs) in ALS and shows their association with RBP mislocalization.

FUS gene is dual-coding with both proteins united in FUS-mediated toxicity

The paper identifies an alternative open reading frame (altORF) within the FUS gene that contributes to toxicity in neurodegenerative models.

Widespread FUS mislocalization is a molecular hallmark of ALS

The paper investigates FUS mislocalization in ALS, finding it occurs in both VCP-mutation related and sporadic ALS, and links it to aberrant intron retention in SFPQ transcripts.

Post-transcriptional remodelling is temporally deregulated during motor neurogenesis in human ALS models

The paper identifies post-transcriptional changes during motor neurogenesis in ALS models, showing premature intron retention in VCP-mutant cells and similar effects in SOD1 and FUS mutations.