Elizabeth M.H. Tank

Cryptic intronic transcriptional initiation generates efficient endogenous mRNA templates for C9orf72-associated RAN translation

The paper identifies cryptic intronic C9orf72 transcripts as endogenous templates for RAN translation, leading to DPR production in ALS/FTD.

Nemo-like kinase disrupts nuclear import and drives TDP43 mislocalization in ALS

This study shows NLK disrupts nuclear import, causing TDP43 mislocalization in ALS, and suggests NLK as a therapeutic target.

Molecular Visualization of Neuronal TDP43 Pathology In Situ

This study uses a multimodal cryo-correlative microscopy pipeline to visualize TDP43 mislocalization and aggregation in iPSC-derived neurons and patient tissue, revealing ordered fibrils in autophagosomes and lysosomes.

TDP43 autoregulation gives rise to shortened isoforms that are tightly controlled by both transcriptional and post-translational mechanisms

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.

Ribosomal quality control factors inhibit repeat-associated non-AUG translation from GC-rich repeats

The paper shows that ribosomal quality control factors reduce toxic repeat-associated non-AUG translation from GC-rich repeats by preventing ribosomal stalling.

Counter-regulation of RNA stability by UPF1 and TDP43

The paper develops NMDq, a next-generation sequencing method to quantify NMD status, and applies it to ALS and FTD, finding no significant PTC differences but showing UPF1 regulates RNA homeostasis through alternative polyadenylation.

RNA methylation influences TDP43 binding and disease pathogenesis in models of amyotrophic lateral sclerosis and frontotemporal dementia

This study shows that RNA methylation influences TDP43 binding and contributes to neurodegeneration in ALS by modulating RNA stability and TDP43 function.

Myotubularin-related phosphatase 5 is a critical determinant of autophagy in neurons

This study identifies MTMR5 as a neuron-specific autophagy suppressor, showing its role in limiting autophagy and its potential as a therapeutic target for neurodegenerative diseases.

Enhanced detection of nucleotide repeat mRNA with hybridization chain reaction

This study compares hybridization chain reaction (HCR) to FISH for detecting repeat RNA foci in neurodegenerative disorders, finding HCR to be significantly more sensitive.

TDP-43 stabilizes transcripts encoding stress granule protein G3BP1: potential relevance to ALS/FTD

This study shows TDP-43 stabilizes G3BP1 transcripts via direct binding, and TDP-43 depletion reduces G3BP1 protein levels, contributing to stress granule dysfunction in ALS/FTD.

Shortened TDP43 isoforms upregulated by neuronal hyperactivity drive TDP43 pathology in ALS

This study shows that shortened TDP43 isoforms, upregulated by neuronal hyperactivity, drive TDP43 pathology in ALS by forming cytoplasmic inclusions and sequestering full-length TDP43.

Sema3A Facilitates a Retrograde Death Signal via CRMP4-Dynein Complex Formation in ALS Motor Axons

The paper identifies a novel retrograde death signal mechanism in ALS motor neurons involving CRMP4-dynein complex formation triggered by muscle-secreted Sema3A.

Rescue of a developmental arrest caused by a C. elegans heat-shock transcription-factor mutation by loss of ribosomal S6-kinase activity

This study identifies that loss of rsks-1/S6-Kinase rescues developmental arrest in C. elegans hsf-1 mutants, revealing an unexplained regulatory link between heat-shock transcription factors and the TOR pathway during development.