Adolfo López de Munain

This study shows that loss of TDP-43 causes premature aging in skeletal muscle stem cells, reducing their regenerative capacity and leading to muscle degeneration.

The paper identifies early ALS-related lipid changes in presymptomatic SOD1G93A mice using lipid imaging mass spectrometry, showing sex-dependent and fiber-type-specific alterations detectable before symptoms.

This study uses computational methods to analyze ELOVL6 structure and inhibition, identifying key residues and binding pathways for drug design.

This study investigates the effects of systemic FOXO1 inhibition in hSOD1G93A mice, finding limited therapeutic benefit in modifying disease progression or muscle pathology.

This study shows that doxorubicin causes skeletal muscle weakness by disrupting RyR1 calcium leak and oxidative stress, and that stabilizing the RyR1-FKBP12 complex with triazole compounds mitigates these effects.

This paper introduces 3TRS, a targeted RNA sequencing method to quantify HTT transcripts in HD models, revealing cryptic polyadenylation linked to somatic instability and CAG repeat purity.

This study develops chemically optimized miR-23b antimiRs that enhance muscle uptake and restore MBNL1 function in DM1 models, showing improved efficacy and safety.

This study evaluates the pharmacological and safety profile of MP-004 after topical eye drops in mice, rabbits, and pigs, showing effective retinal concentrations and minimal systemic exposure.

This study identifies novel plasma proteins associated with KIF5A-linked SPG10 and ALS using targeted proteomics, revealing distinct proteomic signatures and potential biomarkers.

This paper develops a cell-based platform to quantify DMPK and MBNL1 in DM1 models and evaluates therapeutic strategies targeting DMPK.

This study evaluates MP-004, a novel FKBP12 ligand, showing improved retinal function and structure in retinitis pigmentosa models through protection against oxidative stress and cell death.

The paper shows that energy scarcity and mitochondrial translation impairment cause ALS-FTD-related proteins to form perinuclear stress granule clusters, potentially leading to pathological inclusions.

This study shows that GRN haploinsufficiency in FTD causes lysosomal and mitochondrial dysfunction, lipid metabolism changes, and autophagy impairment, which may contribute to disease pathogenesis.

This study tests a novel FKBP12 ligand, MP-010, in ALS mice, showing improved motor function, preserved motor neurons, and extended lifespan.

The study shows that the p.Lys254del-CAPN3 mutation is not sufficient to cause late-onset camptocormia in dominant calpainopathy.

The paper identifies transcriptional signatures of synaptic vesicle genes associated with neurodegeneration in Myotonic Dystrophy Type I using transcriptome and brain imaging data.

This paper reports six novel genetic variants associated with Alzheimer's disease risk and demonstrates the utility of polygenic risk scores for risk stratification and age at onset prediction.

This study conducts a GWAS of Parkinson disease in Spain, identifies a novel population-specific signal at PARK2 associated with age-at-onset, and highlights genetic substructure for future fine-mapping.