Genetic Neurodegenerative Diseases

Accumulation of FAM98B and tRNA-Splicing Ligase Complex Proteins in Neuronal Intranuclear Inclusions in Spinocerebellar ataxia type 4.

The paper examines the localization of tRNA-splicing ligase complex proteins in SCA4 pontine neurons, finding their accumulation in neuronal intranuclear inclusions.

Computational modeling and preclinical validation support targeting somatic instability for Huntington's disease treatment

The paper develops a computational model to predict therapeutic benefits of reducing somatic instability in Huntington's disease and validates it with preclinical experiments.

The human-specific lncRNA HD-LINC drives lipid droplet-associated neurodegeneration in Huntington's disease

This study identifies HD-LINC, a human-specific lncRNA, as a driver of lipid droplet-associated neurodegeneration in Huntington's disease, showing its role in lipid metabolism and neuronal death.

Polyglutamine aggregation in the C. elegans nervous system is driven by stochastic nucleation events

This study shows polyglutamine aggregation in C. elegans neurons occurs through stochastic nucleation, independent of cellular context and ageing.

Androgen Receptor SUMO site mutations ameliorate toxicity in Drosophila models of SBMA

This study shows that mutating SUMOylation sites in the androgen receptor in Drosophila models of SBMA improves longevity but has limited effects on motor performance.

Glial Mutant Huntingtin Expression Initiates a Progressive Pathological Cascade Toward Neuronal Involvement in Drosophila

This study shows that glial mutant huntingtin expression in Drosophila leads to progressive pathological changes, increasing neuronal involvement and delayed motor dysfunction.

VO659, a CAG repeat-targeting antisense oligonucleotide, lowers multiple neurotoxic mutant huntingtin proteins in Huntington's disease

VO659 reduces multiple neurotoxic mutant huntingtin proteins in Huntington's disease by targeting CAG repeats, while sparing wild-type HTT.

A coding CAG repeat expansion in EP400 causes Spinocerebellar Ataxia

This study identifies a CAG repeat expansion in EP400 as a novel cause of spinocerebellar ataxia in Serbian patients, with an inverse correlation between repeat number and age at onset.

Polyglutamine-expanded TBP rewires neuronal and muscle proteomes beyond transcription in a Drosophila model of SCA17

This study identifies tissue-specific proteomic changes in a Drosophila SCA17 model, showing polyglutamine-expanded TBP affects pathways beyond transcription.

A Humanized Mouse Model of DRPLA Recapitulates Epilepsy and Demonstrates Antisense Oligonucleotide-Mediated Disease Modification

This study uses a humanized mouse model to show that antisense oligonucleotides reduce seizure activity and mortality in DRPLA.

iPSC Neurodegenerative Disease Initiative isogenic CAG repeat iPSC line for Huntingtons disease

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.

Autonomic neurons are intrinsically hyperexcitable in a Friedreich ataxia iPSC model

This paper establishes that FRDA autonomic neurons are hyperexcitable and exhibit mitochondrial dysfunction using iPSC-derived models.