Adolfo López de Munain
Carlos III Health Institute
Publications 139
Myotonic dystrophy type 1 (DM1) is a life-threatening and chronically debilitating neuromuscular disease caused by the expansion of a CTG trinucleotide repeat in the 3′ UTR of the DMPK gene. The mutant RNA forms insoluble structures capable of sequestering RNA binding proteins of the Muscleblind-like (MBNL) family, which ultimately leads to phenotypes. In this work, we demonstrate that treatment with the antiautophagic drug chloroquine was sufficient to up-regulate MBNL1 and 2 proteins in Drosop...
#1Maitane Ezquerra-Inchausti (Ministry of Economy)H-Index: 3
#2Ander AnasagastiH-Index: 3
Last.Javier Ruiz-Ederra (Ministry of Economy)H-Index: 13
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#1Beatriz De la Casa-Fages (Hospital General Universitario Gregorio Marañón)H-Index: 4
Last.Adolfo López de MunainH-Index: 33
view all 27 authors...
1 CitationsSource
Limb-girdle muscular dystrophy recessive 1 (LGMDR1), previously known as LGMD2A, is a rare disease caused by mutations in the CAPN3 gene. It is characterized by progressive weakness of shoulder, pelvic, and proximal limb muscles that usually appears in children and young adults and results in loss of ambulation within 20 years after disease onset in most patients. The pathophysiological mechanisms involved in LGMDR1 remain mostly unknown, and to date, there is no effective treatment for this dis...
#1Danique Beijer (University of Antwerp)H-Index: 1
#2Tine Deconinck (University of Antwerp)H-Index: 20
Last.Jonathan Baets (University of Antwerp)H-Index: 29
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#1Antonio Ordóñez (CSIC: Spanish National Research Council)H-Index: 10
#2Belén Fernández (CSIC: Spanish National Research Council)H-Index: 16
Last.Sabine Hilfiker (RU: Rutgers University)
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#1Garazi Labayru (UPV/EHU: University of the Basque Country)
#2Jone Aliri (UPV/EHU: University of the Basque Country)H-Index: 6
Last.A. Sistiaga (UPV/EHU: University of the Basque Country)H-Index: 6
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#1Marc Clos-Garcia (UPV/EHU: University of the Basque Country)H-Index: 1
Last.Juan M. Falcon-Perez (Ikerbasque)H-Index: 26
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Abstract Background Fibromyalgia is a complex, relatively unknown disease characterised by chronic, widespread musculoskeletal pain. The gut-brain axis connects the gut microbiome with the brain through the enteric nervous system (ENS); its disruption has been associated with psychiatric and gastrointestinal disorders. To gain an insight into the pathogenesis of fibromyalgia and identify diagnostic biomarkers, we combined different omics techniques to analyse microbiome and serum composition. Me...