Blair R. Leavitt

Proteomic profiling of baseline CSF and serum from HDClarity identifies signatures for Huntington disease staging and stratification

This study identifies proteomic signatures in CSF and serum from HDClarity that can stage and stratify Huntington disease across clinical stages with high accuracy.

Targeting AASS improves neurotoxicity and mitochondrial function in astrocyte models for pyridoxine dependent epilepsy

This study shows that targeting AASS in astrocytes reduces neurotoxicity and improves mitochondrial function in a model of pyridoxine-dependent epilepsy.

Challenges and advances for huntingtin detection in cerebrospinal fluid: in support of relative quantification

This study investigates challenges in mHTT quantification in CSF, showing that absolute quantitation is unreliable due to protein complexity and recommends relative quantitation instead.

Antisense oligonucleotides targeting the miR-29b binding site in the GRN mRNA increase progranulin translation

This study shows that antisense oligonucleotides can increase progranulin protein levels by blocking miR-29b binding in GRN mRNA, offering a potential therapy for FTD.

Huntingtin expression influences spontaneous seizure disorder susceptibility in FVN/B mice

This study shows that altering huntingtin levels affects seizure susceptibility in FVB/N mice, with over-expression preventing seizures and reduction increasing their frequency.

Identification of novel biomarkers for pyridoxine-dependent epilepsy using untargeted metabolomics and infrared ion spectroscopy - biochemical insights and clinical implications

The paper identifies novel biomarkers for pyridoxine-dependent epilepsy using metabolomics and infrared ion spectroscopy, showing their potential for newborn screening and clinical implications.

Assessment of Functional Connectome Construction Strategies in Neurodegeneration

This study compares functional connectome construction strategies in neurodegeneration, finding that principal component-based correction and weighted unthresholded networks best discriminate HD gene carriers from controls.