Michael Emmerson Ward

The paper generates isogenic iPSC lines with CAG repeats and HTT KO for Huntington's disease study, showing differentiation potential and altered gene expression in neurons and astrocytes.

This study identifies TDP-43 dysfunction as a cause of cryptic circular RNA formation in ALS/FTD, showing their association with disease-relevant protein loss and potential as biomarkers.

This study identifies deep intronic IGHMBP2 variants causing SMARD1 and CMT2S, showing they activate a shared cryptic splice donor, enabling correction with a single antisense oligonucleotide in patient-derived motor neurons.

The paper identifies TMEM106B fibril accumulation as a shared mechanism in neurodegeneration linked to genetic variants in TMEM106B and GRN.

The paper generates and characterizes a custom genome assembly for the KOLF2.1J iPSC line to improve genomic analysis accuracy compared to standard references.

The paper shows statins and mevalonate pathway inhibition increase STMN2 and ATF3, promoting neuronal regeneration in neurodegenerative disease.

The paper introduces LRAA, a framework for accurate isoform discovery and quantification in long-read RNA-seq data, outperforming existing methods across multiple benchmarks.

This paper presents a xeno-free protocol to rapidly differentiate human iPSCs into microglia using the KOLF2.1J line, resulting in functional microglia with immune markers and phagocytic activity.

The paper investigates factors determining TDP-43 seeding outcomes in FTLD-TDP, identifying TMEM106B fibrillar core and lysosomal escape as critical drivers.

The paper introduces a high-throughput 3D culture system for imaging axonal processes in human iPSC-derived neurons, enabling efficient study of microtubule dynamics and cargo transport.

A HaloTagged MFN2 reporter enabled CRISPRi screens showing diverse mitochondrial damage activates PINK1-Parkin via membrane potential loss, with TOM retaining PINK1 when TIM23 is blocked.

The paper identifies TDP-43-dependent molecular cascades in ALS/FTD by integrating multiomic data from iPSC-derived neurons and validates key genes through experimental assays.

The paper identifies BORC as a modifier of TDP-43 protein levels in neurons, showing lysosome transport is required for TDP-43 turnover.

The paper identifies CHIP-mediated microautophagy as a protective mechanism against lysosomal damage caused by CLN4 mutations, showing its therapeutic potential in neurodegenerative diseases.

This study shows that triglyceride metabolism is essential for microglial activation and disease states in APOE4 microglia, with implications for modulating immune responses.

This study develops a single-step transposon-based method to generate pure GABAergic neurons from iPSCs, showing they mature synaptically and form functional networks.

This study identifies cryptic epitopes from de novo proteins caused by TDP-43 pathology as targets of CD8+ T cell activation in ALS and IBM.

This study identifies molecular subtypes based on cryptic exon burden in hippocampal tissue, revealing proteomic changes linked to TDP-43 pathology in LATE and Alzheimer's disease.

The paper profiles proteome and phosphoproteome dynamics during neuronal differentiation of the KOLF2.1J iPSC line, revealing distinct molecular signatures and kinase activity changes.

The paper describes the generation and validation of C9orf72 repeat expansion knock-in iPSC lines for ALS and FTD research, showing they differentiate into neurons and display disease-related pathologies.

This study develops a human iPSC model of axonal degeneration, identifies DLK-dependent mitochondrial fission as a key mechanism, and shows CRISPR-mediated Drp1 depletion protects neurons from degeneration.

The paper identifies a non-coding risk variant in GBA1 associated with Parkinson's disease in African ancestry populations, showing it disrupts splicing and reduces glucocerebrosidase activity.

ProtPipe is a data analysis pipeline for proteomics and peptidomics that automates processing, quality control, and downstream analysis of mass spectrometry data.

This study identifies TDP43 autoregulation as a source of shortened isoforms, showing they are regulated by NMD and post-translational degradation, and their dysregulation leads to neurodegeneration.

This study identifies a mechanism by which progranulin deficiency leads to mitochondrial hyperfusion and neuroinflammation in GRN-FTD, showing that targeting C3aR can restore mitochondrial integrity and reduce microglial activation.

The paper shows that loss of TDP-43 function leads to the expression of de novo proteins from mis-spliced mRNA transcripts in ALS/FTD.

The paper identifies novel cryptic polyadenylation events induced by TDP-43 loss in ALS/FTD using bioinformatic methods and shows their potential disease relevance and impact on protein translation.

This study uses proteomic techniques to show that PGRN deficiency impairs lysosomal function and proteostasis in neurons by altering pH, enzyme levels, and protein turnover.

The paper constructs an enhancer-driven gene regulatory network from human forebrain organoids with ASD and neurotypical controls, identifying key regulators of excitatory neuron specification in macrocephalic ASD.

This paper develops a method to efficiently generate astrocytes from human pluripotent stem cells by bypassing neurogenesis, validated through multiple assays and adapted for drug modeling.