Mahmoud A. Pouladi

This study shows that HTT CAA/CCA-loss variants increase toxicity in Huntington disease models independently of somatic repeat instability.

The paper develops URSA, a method to quantify DNA repair activity at the CAG repeat tract in HD, showing it correlates with somatic instability and can be measured rapidly in blood cells.

This study investigates the role of WWOX in DNA damage and somatic instability in Huntington's disease, finding that WWOX promotes DNA damage but not CAG repeat instability.

This study shows that HTT polyQ expansions disrupt motor and adaptor recruitment to vesicles, causing transport defects and altered responses to neuroinflammatory stress.

The paper shows that loss of interruption in HTT CAG repeats increases somatic expansion and MSN loss in HD, with greater effects in patients with CAG-CCG LOI.

This paper identifies and characterizes high-affinity, selective macrocyclic peptide ligands for Huntingtin, enabling structural and functional studies of HTT and its complex with HAP40.

This paper identifies PRMT5 as a regulator of HTT mRNA splicing and alternative polyadenylation, showing that its inhibition reduces full-length HTT protein levels by promoting premature termination and cleavage.

This study identifies huntingtin as an RNA-binding protein that interacts with G-rich RNA sequences, including those in the NEAT1 paraspeckle lncRNA.

This study identifies splicing dysregulation in RNA processing and neuronal function genes in early and late-stage Huntington's disease using an isogenic neuronal cell model and post-mortem data.

This study shows that Ermin deficiency causes myelin abnormalities and inflammation, leading to neurological deficits and increased susceptibility to demyelination, suggesting it as an 'inside-out' model for inflammatory dysmyelination.

This study investigates the role of HTT palmitoylation in Huntington disease by assessing its dysregulation in models and showing that modulating palmitoylation reduces mHTT toxicity.

The paper uses scRNA-seq to show increased transcriptional heterogeneity in neurodegenerative disease models, suggesting early regulatory imbalances.

The paper identifies novel modifier genes for Huntington disease by combining population-scale gene expression data with patient genomic data.

The paper identifies molecular signatures and neurodevelopmental abnormalities in FMRP-deficient neurons derived from isogenic FMR1 knockout human embryonic stem cells.

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.

This study shows that HTT is not essential for early zebrafish development but affects postnatal fitness and body size.

The paper investigates how microbiota affects myelination and white matter plasticity in a Huntington disease mouse model, finding altered myelin thickness and oligodendrocyte numbers in germ-free conditions.