Amets Sáenz

Instituto de Salud Carlos III — Spain

Biochemistry, Genetics and Molecular Biology · Life Sciences

26h-index4.7kcitations73works2.52yr avg
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Research Topics

Muscle Physiology and Disorders(33), Genetic Neurodegenerative Diseases(21), Calpain Protease Function and Regulation(21), Mitochondrial Function and Pathology(8), Parkinson's Disease Mechanisms and Treatments(7)

Publications71 total

A New Approach to Modeling LGMDR1: Pyrvinium-Treated <i>capn3b</i> crispant Zebrafish
2025Open Access
Urinary N-terminal titin fragment ascertained as biomarker in a small cohort of limb-girdle muscular dystrophy LGMDR1-calpain 3 related
Journal of Neuromuscular Diseases·2025· 2 citedOpen Access
The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb–Girdle Muscular Dystrophy
Cells·2025· 3 citedOpen Access
The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb–Girdle Muscular Dystrophy
Preprints.org·2025Open Access
Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis
Acta Neuropathologica·2024· 5 citedOpen Access
Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis
2024Open Access
Casein kinase 1 inhibitor avoids TDP-43 pathology propagation in a patient-derived cellular model of amyotrophic lateral sclerosis
Neurobiology of Disease·2024· 10 citedOpen Access
The <scp>CAPN3 p.Lys 254del</scp> variant is not always associated with dominant <scp>CAPN3</scp>‐related muscular dystrophy
Muscle & Nerve·2024Open Access
Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions
Orphanet Journal of Rare Diseases·2023· 4 citedOpen Access
The key role of TDP-43 in amyotrophic lateral sclerosis propagation and the disease-modifying profile of CK-1 inhibitors
Research Square (Research Square)·2023Open Access
The in-frame p.Lys254del-CAPN3 deletion is not sufficient to cause late-onset camptocormia in dominantly inherited calpainopathy
2023Open Access
Additional file 4 of Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions
Figshare·2023Open Access
Senescence plays a role in myotonic dystrophy type 1
JCI Insight·2022· 22 citedOpen Access
Allosteric Modulation of GSK-3β as a New Therapeutic Approach in Limb Girdle Muscular Dystrophy R1 Calpain 3-Related
International Journal of Molecular Sciences·2021· 13 citedOpen Access
Impact of Interface Type on Noninvasive Ventilation Efficacy in Patients With Neuromuscular Disease: A Randomized Cross-Over Trial
Archivos de Bronconeumología·2021· 1 cited
Genotype–phenotype correlations in recessive titinopathies
Genetics in Medicine·2020· 75 citedOpen Access
Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels
Orphanet Journal of Rare Diseases·2020· 15 citedOpen Access
Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations
International Journal of Molecular Sciences·2019· 42 citedOpen Access
Effect of frizzled related protein (FRZB) on muscles: an inverse relationship between FRZB and calpain-3 with potential impact on muscle dystrophy and osteoarthritis
Osteoarthritis and Cartilage·2018· 1 cited
233rd ENMC International Workshop:
Neuromuscular Disorders·2018· 11 citedOpen Access
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Frequent Co-authors

Adolfo López de Munaín(37), J.F. Martí-Massó(9), David Otaegui(9), Juan José Poza(8), Margarita Azpitarte(8), Lorea Blázquez(7), Javier Ruiz‐Martínez(6), J. Andoni Urtizberea(6), France Leturcq(6), María Goicoechea(6), Oihane Jaka(6), Jordi Pérez‐Tur(5), Miguel Urtasun(5), Ana María Cobo(5), F. García-Bragado(5), Leire Casas-Fraile(5), Coro Paisán‐Ruíz(4), Juan J. Vílchez(4), José Ignacio Emparanza(4), Isabel Illa(4)