Aaron D. Gitler

The paper identifies tau as an m6A-associated RNA binding protein that causes RNA dysregulation in MAPT coding-variant patients and V337M iNeurons.

This study identifies lipoprotein-mediated endocytosis as a conserved mechanism for cationic cell-penetrating peptides across animal lineages, showing it modulates their antimicrobial function.

This study identifies TDP-43-dependent cryptic splicing events in synaptic and membrane excitability genes and shows they drive neuronal dysfunction in ALS and FTD.

The paper introduces Plate-C, a high-throughput method for whole-genome 3D architecture profiling, and identifies modulators of DNA structure across multiple biological pathways and cell types.

The paper identifies off-target effects in CRISPRi Perturb-seq experiments by analyzing transcriptional similarity between on-target and off-target guide effects.

The paper shows granulin deficiency leads to lysosomal buildup of a TMEM106B C-terminal fragment, explaining how TMEM106B alleles influence FTD risk.

This study shows that SMN deficiency reduces KIF5A in SMA, impairing axon regeneration, and links SMA and ALS through KIF5A stabilization by SMN.

The paper creates a cross-species spinal cord cell type atlas integrating data from mouse, macaque, and human, identifying conserved and species-specific features.

This study identifies ATP8A2 as a TDP-43 target whose loss leads to PS exposure and neuroinflammation, suggesting immune cell inhibition as a therapeutic strategy for ALS-FTD and CAMRQ4.

This study investigates how RNA structure and sequence context influence RAN translation initiation in C9orf72 repeats, revealing a kinetic bottleneck in initiation at near-cognate start codons.

The paper identifies a disease-associated motor neuron state in a mouse ALS model that precedes cell death and links it to human ALS genetic risk factors.

This study shows that ATXN2 polyglutamine expansion impairs QKI-dependent alternative splicing and oligodendrocyte maintenance in a mouse model of SCA2.

The paper shows that TDP-43 loss causes cryptic splicing events that are masked by nonsense-mediated decay, and inhibiting this decay reveals hundreds of novel splicing events.

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

This study identifies opposing roles of p38α phosphorylation and arginine methylation in TDP-43 proteinopathy, showing that phosphorylation promotes aggregation while methylation reduces it.

This study shows that inhibiting histone deacetylases enhances neuronal resilience to stress by inducing a permissive transcriptional state and activating proteostasis pathways.

This study shows that TDP-43 nuclear loss in FTD/ALS causes widespread alternative polyadenylation changes affecting disease-relevant genes.

The paper analyzes single-nucleus RNA-seq data from human spinal cord neurons, identifies motor neurons as rare, and highlights discrepancies with a prior study due to potential misclassification of cholinergic debris.

The paper creates a molecular atlas of adult C. elegans motor neurons, identifying 29 subclasses defined by transcription factor and neuropeptide codes, and shows conservation between C. elegans and mice.

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.

This study identifies RTN4R as a regulator of ataxin-2 levels and shows its potential as a therapeutic target for ALS and SCA2.

This study shows that TDP-43 represses a cryptic exon in UNC13A, and genetic variants associated with FTD/ALS increase cryptic exon inclusion when TDP-43 is dysfunctional.

The paper identifies Etidronate, an FDA-approved drug, as a method to lower ataxin-2 levels in neurons using a CRISPR screen and validates its efficacy in mice.

This study shows that C9orf72 repeat expansions produce toxic arginine-rich DPRs that disrupt axonal transport by interacting with microtubules and motor proteins, contributing to ALS/FTD.

The paper investigates the phenotypic consequences of RPS25 and RACK1 loss in human cells, finding that RPS25 knockout leads to irreversible resistance traits and gene expression rewiring.

This study profiles single-nucleus transcriptomes of adult mouse spinal motor neurons to identify transcriptional subtypes and their functional roles.

The paper identifies FIS1 as a genetic interactor of C9ORF72 through a synthetic lethal CRISPR screen in human myeloid cells, revealing a role for FIS1 in suppressing inflammatory signaling.

The paper identifies the PAF1 complex as a mediator of expanded GGGGCC repeat transcription in C9orf72-associated FTD, showing its role in RNA toxicity and disease progression.

The paper applies two novel collapsing methods to ALS sequencing data to identify risk regions in known ALS genes and candidate genes.

This study shows that CREST mutations in mice lead to neuroinflammatory responses and motor defects similar to ALS, revealing a molecular mechanism involving the CREST-BRG1 complex and cytokine expression.