Justin K. Ichida

This study shows that expressing G4C2 repeats in Drosophila mushroom bodies causes age-dependent TDP-43 pathology and dementia-like phenotypes, with Dlp/GPC6 playing a role in synaptic loss.

Spliformer-V2 predicts and interprets tissue-specific effects of splice-altering variants, identifying disease-relevant genes and therapeutic targets in ALS.

The paper identifies a multi-protein complex in PBMCs as a target for ALS therapeutic assembly modulators, showing altered composition in ALS patients and responsiveness to treatment.

This study shows that adding human iPSC-derived motor neurons to engineered muscle bundles improves their structural and functional maturity and maintains an oxidative phenotype.

This paper introduces scPRS, a deep learning model that deconvolves polygenic risk scores at the single-cell level to uncover cellular and molecular disease mechanisms in complex human diseases.

This study uses high-intensity focused ultrasound to induce traumatic brain injury in human iPSC-derived cortical organoids, revealing key pathological features like tau phosphorylation and neurodegeneration.

The paper identifies CCDC146 as a modifier of ALS survival through primary cilia dysfunction and shows ASO targeting of CCDC146 rescues ALS phenotypes in human and mouse models.

This paper introduces a new drug-like small molecule series targeting PDI in a multi-protein complex for ALS treatment, showing activity in cellular and animal models.

The paper identifies that poly-GR binds ribosomal RNA and shows that modified rRNA oligonucleotides can mitigate poly-GR toxicity in models of C9orf72 ALS/FTD.

The paper investigates C9orf72 expansion carriers using radiogenomics to link peripheral blood transcriptomics with thalamic atrophy and clinical impairment, finding global transposable element de-repression and associations between C9orf72 expression and disease severity.

The paper develops a machine learning classifier to distinguish ALS-causative from non-ALS-causative variants with high accuracy using nine key mutation assessors.

This study uses a CRISPRi/a platform in iPSC-derived microglia to identify genes regulating microglia states and their therapeutic targets.

The paper identifies non-coding variants in the IL18RAP 3'UTR that reduce ALS risk by modulating neuro-inflammation through NF-κB signaling in microglia.

This study shows that glutamatergic dysfunction occurs before neuron loss in cerebral organoids with MAPT mutations, suggesting therapeutic targets for FTD.

This study examines C9orf72 ALS/FTD patient-derived iPSC-microglia mono-cultures, finding they form RNA foci, have reduced C9orf72 protein, and show endosomal-lysosomal dysfunction, but no significant microglial-enriched gene expression differences.

This study shows that inhibiting PIKFYVE kinase rescues both gain- and loss-of-function C9ORF72 disease mechanisms in mouse models of ALS/FTD.

This study identifies dynamic transcription-replication tradeoffs that limit cellular reprogramming and shows that hypertranscription and hyperproliferation enhance reprogramming efficiency.

Genome-wide CRISPR-Cas9 screens in human cells reveal mechanisms and targets for ALS-associated C9orf72 dipeptide repeat protein toxicity.