Genetic Neurodegenerative Diseases

The paper uses ribosome profiling to show that mitochondrial-encoded OXPHOS mRNA translation is increased while nuclear-encoded OXPHOS mRNA translation is decreased in Huntington disease striatal cells.

This study identifies early dysregulation in the basal ganglia indirect pathway in Q175 HD mice before cell loss, showing hypoactivity in striatal neurons and hyperactivity in GPe neurons.

The paper examines haplogroups at the HTT locus in an Indian population, finding significant genotype frequency differences between HD cases and controls, with Haplogroup A being predominant.

This study shows that delivering SREBP2 to astrocytes in HD mice restores cholesterol biosynthesis and improves disease symptoms.

This study shows that HTT silencing in premanifest HD mice delays disease onset and slows progression, using CBVa as a noninvasive biomarker.

The paper shows that reducing glial genes involved in synaptic function reduces disease pathology and behavioral issues in a Drosophila Huntington's Disease model.

This study transplants HD patient-derived neurons into mice to observe in vivo degeneration and identifies mechanisms of disease propagation.

This study shows that inhibiting HDAC1 and HDAC3 with RGFP109 improves motor function and corrects gene expression in a Huntington's disease mouse model.

This study shows that reducing huntingtin protein levels decreases somatic instability in CAG-expanded loci in both mouse models and human neurons.

This study validates CRISPR/Cas9 as a therapeutic strategy for SCA1 by downregulating ATXN1 expression in patient fibroblasts with minimal off-target effects.

This study identifies HAP40 as a conserved regulator of Huntingtin, showing it maintains HTT stability and modulates mutant HTT toxicity in both flies and human cells.

This study shows that striatal cholesterol infusion prevents cognitive decline and improves motor function in HD mice, with dose-dependent benefits and synaptic recovery.

The paper identifies HD-specific mis-splicing using intersect-RNA-seq in human and mouse models, revealing pathogenic splicing factors and effector genes.

This study shows increased lamin B1 levels in HD neurons disrupt nuclear function, and reducing lamin B1 with betulinic acid improves nuclear homeostasis and prevents motor and cognitive dysfunction in a mouse model.

This paper describes a novel Ataxin-3 knock-in mouse model that replicates key neuropathological, behavioral, and transcriptional features of human SCA3 disease.

This study identifies cGAS as a key DNA sensor upregulated in Huntington disease, promoting inflammation and autophagy through increased mRNA occupancy and protein activity.

This study identifies TBK1 as a kinase that phosphorylates mutant huntingtin, reduces its aggregation and toxicity in multiple HD models.

This study shows that expanded CAG repeats in HTT disrupt neural progenitor expansion and differentiation in human cerebral organoids, suggesting abnormal neurodevelopment in Huntington disease.

The paper examines how polyQ expansion affects HTT structure and phosphorylation, showing structural changes and altered phosphorylation patterns that influence HTT activity.

The paper identifies a genetic variant in C. elegans atg-5 that alters autophagy's effect on polyglutamine aggregation, showing tissue-dependent outcomes.

This study shows that deleting the CTG expansion in DM1 hESCs reverses DMPK methylation and restores SIX5 transcription, but has no effect on affected myoblasts.

This study shows polyglutamine-expanded androgen receptor disrupts muscle function by altering calcium dynamics and excitation-contraction coupling gene expression, which can be reversed by treatment.

The paper measures plasma pNfH levels in SBMA and ALS patients, finding no increase in SBMA but a significant increase in ALS, suggesting pNfH could differentiate the two diseases.

This study shows that the length of uninterrupted CAG repeats, not the encoded polyglutamine segment, determines Huntington's disease onset, and DNA maintenance genes modify this process.

The paper tests the CRUNCH model in premanifest Huntington’s disease using fMRI and stop-signal tasks, finding results inconsistent with the model's predictions.

The paper examines how task difficulty influences functional brain reorganisation in premanifest Huntington’s disease using fMRI and the CRUNCH model.

This study uses isogenic iPSC-derived neurons to analyze the transcriptomic effects of GAA*TTC repeat expansion in Friedreich ataxia and shows partial restoration with HDACi treatment.

This study establishes iPSC-derived neuronal cell lines for SCA12, identifies interferon signaling and inflammatory signatures as key transcriptomic features.