Desarrollo y Enfermedades Musculares
DEM
Instituto de Salud Carlos III
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Instituto de Salud Carlos III (14)
2022
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UPRmt activation improves pathological alterations in cellular models of mitochondrial diseases
Orphanet Journal of Rare Diseases, Vol. 17, Núm. 1
2021
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Down regulation of the expression of mitochondrial phosphopantetheinyl-proteins in pantothenate kinase-associated neurodegeneration: pathophysiological consequences and therapeutic perspectives
Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1
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Generation of three human iPSC lines from PLAN (PLA2G6-associated neurodegeneration) patients
Stem Cell Research, Vol. 53
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Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
Autophagy, Vol. 17, Núm. 1, pp. 1-382
2020
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Parkin-mediated mitophagy and autophagy flux disruption in cellular models of MERRF syndrome
Biochimica et Biophysica Acta - Molecular Basis of Disease, Vol. 1866, Núm. 6
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Precision Medicine in Rare Diseases
DISEASES, Vol. 8, Núm. 4
2019
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Pantothenate Rescues Iron Accumulation in Pantothenate Kinase-Associated Neurodegeneration Depending on the Type of Mutation
Molecular Neurobiology, Vol. 56, Núm. 5, pp. 3638-3656
2018
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The effect of copper on endometrial receptivity and induction of apoptosis on decidualized human endometrial stromal cells
Reproductive Sciences, Vol. 25, Núm. 7, pp. 985-999
2017
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Coenzyme Q10 partially restores pathological alterations in a macrophage model of Gaucher disease
Orphanet Journal of Rare Diseases, Vol. 12, Núm. 1, pp. 1-15
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Dynamic reorganization of the cytoskeleton during apoptosis: The two coffins hypothesis
International Journal of Molecular Sciences, Vol. 18, Núm. 11
2016
2014
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Stabilization of apoptotic cells: Generation of zombie cells
Cell Death and Disease, Vol. 5, Núm. 8
2009
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Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: A case report
Clinical Biochemistry, Vol. 42, Núm. 7-8, pp. 742-745