Henry Lauris Paulson

Ficd loss rescues motor impairments and reverses oligodendrocyte maturation deficits in a mouse model of spinocerebellar ataxia type 3

This study shows that loss of FICD rescues motor impairments and reverses oligodendrocyte maturation deficits in a SCA3 mouse model by restoring ER homeostasis and myelination.

Repeat associated non-AUG translation as a common mechanism for the polyGln ataxias

The paper identifies sense and antisense RAN proteins as a common mechanism in CAG-SCAs, showing their accumulation and toxicity in brain regions and demonstrating metformin's ability to reduce RAN protein levels.

A Core Pattern of Cerebellar and Brainstem Degeneration and Reduced Cerebrocerebellar Structural Covariance in Spinocerebellar Ataxia Type 3 (SCA3): MRI Volumetrics from ENIGMA-Ataxia

This study uses MRI volumetrics to analyze cerebellar and brainstem degeneration in SCA3, finding consistent atrophy patterns and reduced cerebrocerebellar covariance.

Endogenous retrovirus-like proteins recruit UBQLN2 to stress granules and alter their functional properties

This study shows that endogenous retrovirus-like proteins RTL8 and PEG10 regulate UBQLN2's recruitment to stress granules and alter their functional properties.

Regional and age-dependent changes in ubiquitination in cellular and mouse models of Spinocerebellar ataxia type 3

The paper investigates how wild-type and pathogenic ATXN3 affect ubiquitination levels in different brain regions and ages in SCA3 models.

Sleep alterations in a mouse model of Spinocerebellar ataxia type 3

This study quantifies sleep EEG changes in a SCA3 mouse model, finding increased REM duration, beta power, and spectral alterations in homozygous mice compared to wild-type.

RTL8 promotes nuclear localization of UBQLN2 to subnuclear compartments associated with protein quality control

This study identifies RTL8 as a novel UBQLN2 interactor that promotes its nuclear translocation and subnuclear localization in protein quality control.

Impaired oligodendrocyte maturation is an early feature in SCA3 disease pathogenesis

This study identifies impaired oligodendrocyte maturation as an early feature in SCA3 disease pathogenesis through longitudinal transcriptomic analysis and functional validation in mice.

Shared and divergent phase separation and aggregation properties of brain-expressed ubiquilins

This study compares the phase separation and aggregation properties of three brain-expressed ubiquilins, finding differences in their condensate formation and aggregation propensity.

In vivo molecular signatures of cerebellar pathology in spinocerebellar ataxia type 3

The paper identifies neurochemical biomarkers of SCA3 pathology in mouse models and shows their reversibility with ATXN3 reduction.

Druggable genome screen identifies new regulators of the abundance and toxicity of ATXN3, the Spinocerebellar Ataxia Type 3 disease protein

The paper identifies 15 druggable genes that modulate ATXN3 levels and toxicity in SCA3, with FBXL3/SCF pathway showing potential as a therapeutic target.

Antisense oligonucleotide therapy rescues aggresome formation in a novel Spinocerebellar Ataxia type 3 human embryonic stem cell line.

This paper describes a novel SCA3 human embryonic stem cell line and shows that antisense oligonucleotides reduce ATXN3 aggregation and prevent aggresome formation.