biostudies-literatureMalacarne CItalian Ministry of HealthPRIN-PROGETTI DI RICERCA DI INTARESSE NAZIONALETelethonITALIAN MINISTRY OF UNIVERSITY AND RESEARCHFRRB TRANS-ALSCARIPLOFONDAZIONE ARISLAFONDAZIONE TELETHON5673https://www.ebi.ac.uk/biostudies/studies/S-EPMC8198536biostudies-literatureUnknown22(11)Motor neuron diseases (MNDs) are neurodegenerative disorders characterized by upper and/or lower MN loss. MNDs include amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), and spinal and bulbar muscular atrophy (SBMA). Despite variability in onset, progression, and genetics, they share a common skeletal muscle involvement, suggesting that it could be a primary site for MND pathogenesis. Due to the key role of muscle-specific microRNAs (myomiRs) in skeletal muscle development, by real-time PCR we investigated the expression of miR-206, miR-133a, miR-133b, and miR-1, and their target genes, in G93A-SOD1 ALS, Δ7SMA, and KI-SBMA mouse muscle during disease progression. Further, we analyzed their expression in serum of <i>SOD1</i>-mutated ALS, SMA, and SBMA patients, to demonstraInternational journal of molecular sciencesDysregulation of Muscle-Specific MicroRNAs as Common Pathogenic Feature Associated with Muscle Atrophy in ALS, SMA and SBMA: Evidence from Animal Models and Human Patients.PMC8198536GGP14039 AND GGP19128GGP191282015-00232015LFPNMN, 2017 F2A2C5PROGETTO DIPARTIMENTI DI ECCELLENZAALS-HSPB8, ALS-GRANULOPATHY, MLOPATHY, TARGET-RAN2017-18862015-2020GGP14039Maggi LGalbiati MSalerno FAndreetta FLauria GCorti SDalla Bella EPensato VBernasconi PCagnoli CPoletti ACavalcante PFenu SVenerando ANizzardo MMalacarne CTaiana MGiagnorio EMantegazza RMasson RMarcuzzo SGellera CPareyson DBonanno SfalseDysregulation of Muscle-Specific MicroRNAs as Common Pathogenic Feature Associated with Muscle Atrophy in ALS, SMA and SBMA: Evidence from Animal Models and Human Patients.Motor neuron diseases (MNDs) are neurodegenerative disorders characterized by upper and/or lower MN loss. MNDs include amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), and spinal and bulbar muscular atrophy (SBMA). Despite variability in onset, progression, and genetics, they share a common skeletal muscle involvement, suggesting that it could be a primary site for MND pathogenesis. Due to the key role of muscle-specific microRNAs (myomiRs) in skeletal muscle development, by real-time PCR we investigated the expression of miR-206, miR-133a, miR-133b, and miR-1, and their target genes, in G93A-SOD1 ALS, Δ7SMA, and KI-SBMA mouse muscle during disease progression. Further, we analyzed their expression in serum of <i>SOD1</i>-mutated ALS, SMA, and SBMA patients, to demonstra2021-01-01T00:00:00Z2021 May2026-04-08T06:53:03.741Z2022-02-10T15:00:45.959ZS-EPMC81985363407363010.3390/ijms22115673