Miren Zulaica
Instituto de Salud Carlos III
Publications 10
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...
#1Beatriz De la Casa-Fages (Hospital General Universitario Gregorio Marañón)H-Index: 4
Last.Adolfo López de MunainH-Index: 33
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1 CitationsSource
#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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#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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Many factors may converge in healthy ageing in the oldest old, but their association and predictive power on healthy o functionally impaired ageing has yet to be demonstrated. By detecting healthy ageing and in turn, poor ageing, we could take action to prevent chronic diseases associated with age. We conducted a pilot study comparing results of a set of markers (peripheral blood mononuclear cell telomere length or PBMC, circulating Aβ peptides, anti-Aβ antibodies, and ApoE status) previously as...
2 CitationsSource
#1Garazi Labayru (UPV/EHU: University of the Basque Country)
#2Irati Arenzana (University of Barcelona)
Last.A. Sistiaga (UPV/EHU: University of the Basque Country)H-Index: 6
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Aims The cognitive profile of Myotonic Dystrophy type 1 (DM1) has been described in recent decades. Moreover, DM1 patients show lowered social engagement and difficulties in social-cognitive functions. The aim of the present study is to explore whether social cognition impairment is present in DM1 taking into account the overall cognitive condition. Method 38 patients and a control group paired in age and gender participated in the study. All the participants had an IQ within the normal range. S...
#1Fermin MorenoH-Index: 13
Last.Suzee E. LeeH-Index: 18
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1 CitationsSource
Objective: Describe the incidence of cancer in a large cohort of patients with myotonic dystrophy type 1 (DM1) and to unravel the underlying molecular mechanisms. Methods: Standardized incidence ratios (SIRs) were calculated in the Gipuzkoa DM1 cohort (1985–2013), dividing observed numbers by expected numbers for all cancers combined and stratified by sex. An estimation of the expected incidence was achieved by multiplying the age- and sex-specific incidence rates from the Basque population canc...
21 CitationsSource
#1Juan M. Fernandez-Costa (University of Valencia)H-Index: 8
#2Beatriz Llamusi (University of Valencia)H-Index: 8
Last.Ruben Artero (University of Valencia)H-Index: 19
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Myotonic dystrophy type 1 (DM1) is an autosomal dominant genetic disease caused by expansion of a CTG microsatellite in the 3’ untranslated region of the DMPK gene. Despite characteristic muscular, cardiac, and neuropsychological symptoms, CTG trinucleotide repeats are unstable both in the somatic and germinal lines, making the age of onset, clinical presentation, and disease severity very variable. A molecular biomarker to stratify patients and to follow disease progression is, thus, an unmet m...
1 CitationsSource