{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Malacarne C"],"funding":["Italian Ministry of Health","PRIN-PROGETTI DI RICERCA DI INTARESSE NAZIONALE","Telethon","ITALIAN MINISTRY OF UNIVERSITY AND RESEARCH","FRRB TRANS-ALS","CARIPLO","FONDAZIONE ARISLA","FONDAZIONE TELETHON"],"pagination":["5673"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8198536"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["22(11)"],"pubmed_abstract":["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 demonstra"],"journal":["International journal of molecular sciences"],"pubmed_title":["Dysregulation of Muscle-Specific MicroRNAs as Common Pathogenic Feature Associated with Muscle Atrophy in ALS, SMA and SBMA: Evidence from Animal Models and Human Patients."],"pmcid":["PMC8198536"],"funding_grant_id":["GGP14039 AND GGP19128","GGP19128","2015-0023","2015LFPNMN, 2017 F2A2C5","PROGETTO DIPARTIMENTI DI ECCELLENZA","ALS-HSPB8, ALS-GRANULOPATHY, MLOPATHY, TARGET-RAN","2017-1886","2015-2020","GGP14039"],"pubmed_authors":["Maggi L","Galbiati M","Salerno F","Andreetta F","Lauria G","Corti S","Dalla Bella E","Pensato V","Bernasconi P","Cagnoli C","Poletti A","Cavalcante P","Fenu S","Venerando A","Nizzardo M","Malacarne C","Taiana M","Giagnorio E","Mantegazza R","Masson R","Marcuzzo S","Gellera C","Pareyson D","Bonanno S"],"additional_accession":[]},"is_claimable":false,"name":"Dysregulation of Muscle-Specific MicroRNAs as Common Pathogenic Feature Associated with Muscle Atrophy in ALS, SMA and SBMA: Evidence from Animal Models and Human Patients.","description":"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 demonstra","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 May","modification":"2026-04-08T06:53:03.741Z","creation":"2022-02-10T15:00:45.959Z"},"accession":"S-EPMC8198536","cross_references":{"pubmed":["34073630"],"doi":["10.3390/ijms22115673"]}}