Adolfo López de Munain

Loss of TDP-43 drives premature aging and impairs skeletal muscle stem cell pool restoration

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.

Muscle spatial lipidomics identifies early ALS signatures in presymptomatic SOD1G93A mice

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.

Computational Analysis of ELOVL6 Structure and Inhibition for Rational Drug Design

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

Comprehensive characterization of skeletal muscle remodeling in hSOD1G93A mice reveals limited functional impact of systemic FOXO1 inhibition

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

Disrupting the Feed-Forward Cycle of RyR1 Calcium Leak and Oxidative Stress Mitigates Doxorubicin-Induced Skeletal Myopathy

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.

Targeted 3'-end RNA sequencing uncovers cryptic polyadenylation in Huntington's disease linked to somatic instability and CAG repeat purity

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.

Enhanced muscle uptake of chemically optimized miR-23b antisense oligonucleotides as lead compounds for Myotonic Dystrophy type 1

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

Assessment of the pharmacological and safety profile of the small molecule MP-004 after topical eye drops administration

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.

Targeted plasma proteomics uncover novel proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders

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

Characterisation of DMPK and MBNL1 expression in cell models of Myotonic Dystrophy: A platform for drug screening

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

Topical administration of novel FKBP12 ligand MP-004 improves retinal function and structure in retinitis pigmentosa models.

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.

Lipid Dysregulation Unveil the Intricate Interplay of Lysosomal and Mitochondrial Changes in Frontotemporal Dementia with GRN Haploinsufficiency

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.

Novel FKBP12 ligand promotes functional improvement in SOD1-G93A ALS mice

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

The in-frame p.Lys254del-CAPN3 deletion is not sufficient to cause late-onset camptocormia in dominantly inherited calpainopathy

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

Transcriptional Signatures of Synaptic Vesicle Genes Define Myotonic Dystrophy Type I Neurodegeneration

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

Common variants in Alzheimer's disease: Novel association of six genetic variants with AD and risk stratification by polygenic risk scores

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.

The genetic architecture of Parkinson disease in Spain: characterizing population-specific risk, differential haplotype structures, and providing etiologic insight

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.