Jorge Espinosa-Espinosa
Overview
Explore the profile of Jorge Espinosa-Espinosa including associated specialties, affiliations and a list of published articles.
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Articles
8
Citations
47
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0
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Recent Articles
1.
Garcia-Puga M, Gerenu G, Bargiela A, Espinosa-Espinosa J, Mosqueira-Martin L, Sagartzazu-Aizpurua M, et al.
Cells
. 2024 Dec;
13(23).
PMID: 39682688
Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder clinically characterized by progressive muscular weakness and multisystem degeneration, which correlates with the size of CTG expansion and MBLN decrease....
2.
Cerro-Herreros E, Nunez-Manchon J, Naldaiz-Gastesi N, Carrascosa-Saez M, Garcia-Rey A, Losilla D, et al.
Sci Adv
. 2024 Oct;
10(41):eadn6525.
PMID: 39383229
This study evaluated therapeutic antimiRs in primary myoblasts from patients with myotonic dystrophy type 1 (DM1). DM1 results from unstable CTG repeat expansions in the gene, leading to variable clinical...
3.
Gonzalez-Martinez I, Cerro-Herreros E, Moreno N, Garcia-Rey A, Espinosa-Espinosa J, Carrascosa-Saez M, et al.
Mol Ther Nucleic Acids
. 2023 Sep;
34:102024.
PMID: 37744174
Myotonic dystrophy type 1 (DM1) is a rare neuromuscular disease caused by a CTG repeat expansion in the gene that generates toxic RNA with a myriad of downstream alterations in...
4.
Overby S, Cerro-Herreros E, Espinosa-Espinosa J, Gonzalez-Martinez I, Moreno N, Fernandez-Costa J, et al.
Pharmaceutics
. 2023 Apr;
15(4).
PMID: 37111604
The symptoms of Myotonic Dystrophy Type 1 (DM1) are multi-systemic and life-threatening. The neuromuscular disorder is rooted in a non-coding CTG microsatellite expansion in the DM1 protein kinase () gene...
5.
Poyatos-Garcia J, Blazquez-Bernal A, Selva-Gimenez M, Bargiela A, Espinosa-Espinosa J, Vazquez-Manrique R, et al.
Mol Ther Nucleic Acids
. 2023 Feb;
31:324-338.
PMID: 36789274
A single-nucleotide deletion in the stop codon of the nuclear import receptor transportin-3 (TNPO3), also involved in human immunodeficiency virus type 1 (HIV-1) infection, causes the ultrarare autosomal dominant disease...
6.
Espinosa-Espinosa J, Gonzalez-Barriga A, Lopez-Castel A, Artero R
Int J Mol Sci
. 2022 Feb;
23(3).
PMID: 35163365
Omics studies are crucial to improve our understanding of myotonic dystrophy type 1 (DM1), the most common muscular dystrophy in adults. Employing tissue samples and cell lines derived from patients...
7.
Cerro-Herreros E, Gonzalez-Martinez I, Moreno N, Espinosa-Espinosa J, Fernandez-Costa J, Colom-Rodrigo A, et al.
Mol Ther Nucleic Acids
. 2021 Sep;
26:174-191.
PMID: 34513303
Myotonic dystrophy type 1 (DM1) is a rare neuromuscular disease caused by expansion of unstable CTG repeats in a non-coding region of the gene. CUG expansions in mutant transcripts sequester...
8.
Bargiela A, Sabater-Arcis M, Espinosa-Espinosa J, Zulaica M, de Munain A, Artero R
Proc Natl Acad Sci U S A
. 2019 Nov;
116(50):25203-25213.
PMID: 31754023
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 gene. The...