Andrea Malaspina

Exploring transcriptomic and genomic latent variable correction approaches in differential expression analysis.

This paper evaluates combining expression-based surrogate variables and genotype-based principal components in differential expression analysis, finding the combined approach improves replicability and biological recall in ALS datasets.

The resolvin D and E biogenesis pathway regulatessenescence and ageing

This study identifies the resolvin D and E biosynthesis pathway as activated in cellular senescence and ageing, with its knockdown impairing senescence induction.

Glutathione Oxidation in Cerebrospinal Fluid as a Biomarker of Oxidative Stress in Amyotrophic Lateral Sclerosis

This study measures glutathione oxidation in cerebrospinal fluid of ALS patients and healthy controls, finding elevated levels and correlations with disease progression and protein oxidation.

TDP-43 pathology induces CD8+ T cell activation through cryptic epitope recognition

This study identifies cryptic epitopes from de novo proteins caused by TDP-43 pathology as targets of CD8+ T cell activation in ALS and IBM.

Mis-spliced transcripts generate de novo proteins in TDP-43-related ALS/FTD

The paper shows that loss of TDP-43 function leads to the expression of de novo proteins from mis-spliced mRNA transcripts in ALS/FTD.

Cell environment shapes TDP-43 function: implications in neuronal and muscle disease

The paper compares TDP-43's transcriptional and splicing effects in muscle and neuronal cells, showing tissue-specific roles in disease.

Circulating miR-181 is a prognostic biomarker for amyotrophic lateral sclerosis

The paper identifies miR-181 as a prognostic biomarker in ALS, showing it predicts higher mortality risk and improves prognosis prediction when combined with NfL.

Enzymatic degradation of RNA causes widespread protein aggregation in cell and tissue lysates

The paper shows that RNA prevents protein aggregation in cell lysates, and that RNA degradation leads to protein aggregation, with specific RNA structures being effective in maintaining protein solubility.

Analysis of circulating protein aggregates reveals pathological hallmarks of amyotrophic lateral sclerosis

This study identifies circulating protein aggregates as a source of ALS biomarkers and therapeutic targets by showing their enrichment with brain proteins and pathological features.

Immune reactivity to neurofilaments and dipeptide repeats in ALS progression

The paper tests antibody and immune-complex responses to neurofilaments and dipeptide-repeats as biomarkers for ALS progression and stratification.

Postmortem Cortex Samples Identify Distinct Molecular Subtypes of ALS: Retrotransposon Activation, Oxidative Stress, and Activated Glia

The paper uses unsupervised machine learning to identify three molecular subtypes in ALS cortex samples, associated with oxidative stress, retrotransposon activation, and glial activation.

Skeletal muscle MRI differentiates SBMA and ALS and correlates with disease severity

This study shows that skeletal muscle MRI can distinguish between SBMA and ALS and is linked to disease severity.

Plasma pNfH differentiate SBMA from ALS

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.