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The Value of Mouse Models of Rare Diseases: A Spanish Experience.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.583932
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- Publication type:
- Article
Aberrant regulation of the GSK‐3β/NRF2 axis unveils a novel therapy for adrenoleukodystrophy.
- Published in:
- EMBO Molecular Medicine, 2018, v. 10, n. 8, p. 1, doi. 10.15252/emmm.201708604
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- Publication type:
- Article
Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 6, p. 2069, doi. 10.1093/brain/awae038
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- Publication type:
- Article
Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.
- Published in:
- 2022
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- Publication type:
- journal article
Expanding the clinical and genetic spectrum of PCYT2-related disorders.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Targeted activation of CREB in reactive astrocytes is neuroprotective in focal acute cortical injury.
- Published in:
- Glia, 2016, v. 64, n. 5, p. 853, doi. 10.1002/glia.22969
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- Publication type:
- Article
Mitochondrial dysfunction in central nervous system white matter disorders.
- Published in:
- Glia, 2014, v. 62, n. 11, p. 1878, doi. 10.1002/glia.22670
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- Publication type:
- Article
ATP and noradrenaline activate CREB in astrocytes via noncanonical Ca<sup>2+</sup> and cyclic AMP independent pathways.
- Published in:
- Glia, 2012, v. 60, n. 9, p. 1330, doi. 10.1002/glia.22352
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- Publication type:
- Article
PeroxisomeDB 2.0: an integrative view of the global peroxisomal metabolome.
- Published in:
- Nucleic Acids Research, 2010, v. 38, p. D800, doi. 10.1093/nar/gkp935
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- Publication type:
- Article
PeroxisomeDB: a database for the peroxisomal proteome, functional genomics and disease.
- Published in:
- Nucleic Acids Research, 2007, v. 35, p. d815, doi. 10.1093/nar/gkl935
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- Publication type:
- Article
Accelerated biological aging in COVID-19 patients.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-29801-8
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- Publication type:
- Article
Histone Deacetylase Inhibitor Upregulates Peroxisomal Fatty Acid Oxidation and Inhibits Apoptotic Cell Death in Abcd1-Deficient Glial Cells.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0070712
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- Publication type:
- Article
Phylogenomic Evidence for a Myxococcal Contribution to the Mitochondrial Fatty Acid Beta-Oxidation.
- Published in:
- PLoS ONE, 2011, v. 6, n. 7, p. 1, doi. 10.1371/journal.pone.0021989
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- Publication type:
- Article
Sequence and Analysis of a 36·2 kb Fragment from the Right Arm of Yeast Chromosome XV Reveals 19 Open Reading Frames Including SNF2 (5′ end), CPA1, SLY41, a Putative Transport ATPase, a Putative Ribosomal Protein and an SNF2 Homologue.
- Published in:
- Yeast, 1997, v. 13, n. 5, p. 479, doi. 10.1002/(SICI)1097-0061(199704)13:5<479::AID-YEA104>3.0.CO;2-G
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- Publication type:
- Article
Sequencing analysis of a 40·2 kb fragment of yeast chromosome X reveals 19 open reading frames including URA2 (5′ end), TRK1, PBS2, SPT10, GCD14, RPE1, PHO86, NCA3, ASF1, CCT7, GZF3, two tRNA genes, three remnant delta elements and a Ty4 transposon
- Published in:
- Yeast, 1996, v. 12, n. 14, p. 1471, doi. 10.1002/(SICI)1097-0061(199611)12:14<1471::AID-YEA30>3.0.CO;2-4
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- Publication type:
- Article
JNK/ERK/FAK Mediate Promigratory Actions of Basic Fibroblast Growth Factor in Astrocytes via CCL2 and COX2.
- Published in:
- NeuroSignals (Karger AG), 2012, v. 20, n. 2, p. 86, doi. 10.1159/000330805
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- Publication type:
- Article
Improvement of the Rett Syndrome Phenotype in a Mecp2 Mouse Model Upon Treatment with Levodopa and a Dopa-Decarboxylase Inhibitor.
- Published in:
- Neuropsychopharmacology, 2014, v. 39, n. 12, p. 2846, doi. 10.1038/npp.2014.136
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- Publication type:
- Article
Modulation of mitochondrial and inflammatory homeostasis through RIP140 is neuroprotective in an adrenoleukodystrophy mouse model.
- Published in:
- Neuropathology & Applied Neurobiology, 2022, v. 48, n. 1, p. 1, doi. 10.1111/nan.12747
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- Publication type:
- Article
Lipid alterations in human frontal cortex in ALS‐FTLD‐TDP43 proteinopathy spectrum are partly related to peroxisome impairment.
- Published in:
- Neuropathology & Applied Neurobiology, 2021, v. 47, n. 4, p. 544, doi. 10.1111/nan.12681
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- Publication type:
- Article
Pioglitazone halts axonal degeneration in a mouse model of X-linked adrenoleukodystrophy.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 8, p. 2432, doi. 10.1093/brain/awt143
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- Publication type:
- Article
Oxidative stress regulates the ubiquitin-proteasome system and immunoproteasome functioning in a mouse model of X-adrenoleukodystrophy.
- Published in:
- 2013
- By:
- Publication type:
- Journal Article
Oxidative stress regulates the ubiquitin–proteasome system and immunoproteasome functioning in a mouse model of X-adrenoleukodystrophy.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 3, p. 891, doi. 10.1093/brain/aws370
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- Publication type:
- Article
Oxidative stress modulates mitochondrial failure and cyclophilin D function in X-linked adrenoleukodystrophy.
- Published in:
- 2012
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- Publication type:
- journal article
Oxidative stress modulates mitochondrial failure and cyclophilin D function in X-linked adrenoleukodystrophy.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 12, p. 3584
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- Publication type:
- Article
A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 9, p. 1574, doi. 10.1002/acn3.51131
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- Publication type:
- Article
A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 1, p. 105, doi. 10.1002/acn3.50967
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- Publication type:
- Article
HNRNPH1‐related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 1, p. 91, doi. 10.1111/cge.13765
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- Publication type:
- Article
Low Lymphocytes and IFN-Neutralizing Autoantibodies as Biomarkers of COVID-19 Mortality.
- Published in:
- 2022
- By:
- Publication type:
- Letter
Harnessing Type I IFN Immunity Against SARS-CoV-2 with Early Administration of IFN-β.
- Published in:
- 2021
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- Publication type:
- Editorial
Neutralizing Autoantibodies to Type I IFNs in >10% of Patients with Severe COVID-19 Pneumonia Hospitalized in Madrid, Spain.
- Published in:
- Journal of Clinical Immunology, 2021, v. 41, n. 5, p. 914, doi. 10.1007/s10875-021-01036-0
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- Publication type:
- Article
High‐dose biotin restores redox balance, energy and lipid homeostasis, and axonal health in a model of adrenoleukodystrophy.
- Published in:
- Brain Pathology, 2020, v. 30, n. 5, p. 945, doi. 10.1111/bpa.12869
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- Publication type:
- Article
Epigenomic signature of adrenoleukodystrophy predicts compromised oligodendrocyte differentiation.
- Published in:
- Brain Pathology, 2018, v. 28, n. 6, p. 902, doi. 10.1111/bpa.12595
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- Publication type:
- Article
Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus‐Merzbacher disease.
- Published in:
- Brain Pathology, 2018, v. 28, n. 5, p. 611, doi. 10.1111/bpa.12571
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- Publication type:
- Article
Amyloid Generation and Dysfunctional Immunoproteasome Activation with Disease Progression in Animal Model of Familial Alzheimer's Disease.
- Published in:
- Brain Pathology, 2012, v. 22, n. 5, p. 636, doi. 10.1111/j.1750-3639.2011.00560.x
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- Publication type:
- Article
Pathomechanisms Underlying X-Adrenoleukodystrophy: A Three-Hit Hypothesis.
- Published in:
- Brain Pathology, 2010, v. 20, n. 4, p. 838, doi. 10.1111/j.1750-3639.2010.00392.x
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- Publication type:
- Article
General Aspects and Neuropathology of X-Linked Adrenoleukodystrophy.
- Published in:
- Brain Pathology, 2010, v. 20, n. 4, p. 817, doi. 10.1111/j.1750-3639.2010.00390.x
- By:
- Publication type:
- Article
Current and Future Pharmacological Treatment Strategies in X-Linked Adrenoleukodystrophy.
- Published in:
- Brain Pathology, 2010, v. 20, n. 4, p. 845, doi. 10.1111/j.1750-3639.2010.00393.x
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- Publication type:
- Article
Foreword.
- Published in:
- Brain Pathology, 2010, v. 20, n. 4, p. 815, doi. 10.1111/j.1750-3639.2010.00398.x
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- Publication type:
- Article
Antioxidants halt axonal degeneration in a mouse model of X-adrenoleukodystrophy.
- Published in:
- Annals of Neurology, 2011, v. 70, n. 1, p. 84, doi. 10.1002/ana.22363
- By:
- Publication type:
- Article
Insulin-like growth factor-1 and neurotrophin-3 gene therapy prevents motor decline in an X-linked adrenoleukodystrophy mouse model.
- Published in:
- Annals of Neurology, 2009, v. 66, n. 1, p. 117, doi. 10.1002/ana.21677
- By:
- Publication type:
- Article
Genetic Variants in <italic>HSD17B3</italic>, <italic>SMAD3</italic>, and <italic>IPO11</italic> Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes.
- Published in:
- Clinical Pharmacology & Therapeutics, 2018, v. 103, n. 4, p. 712, doi. 10.1002/cpt.798
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- Publication type:
- Article
The Evolutionary Origin of Peroxisomes: An ER-Peroxisome Connection.
- Published in:
- Molecular Biology & Evolution, 2006, v. 23, n. 4, p. 838
- By:
- Publication type:
- Article
Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1137, doi. 10.1007/s10545-012-9471-4
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- Publication type:
- Article
A view on clinical genetics and genomics in Spain: of challenges and opportunities.
- Published in:
- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 4, p. 376, doi. 10.1002/mgg3.232
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- Publication type:
- Article
onAltered glycolipid and glycerophospholipid signaling drive inflammatory cascades in adrenomyeloneuropathy.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 24, p. 6861, doi. 10.1093/hmg/ddv375
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- Publication type:
- Article
Methylene blue upregulates Nrf2/ARE genes and prevents tau-related neurotoxicity.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 14, p. 3716, doi. 10.1093/hmg/ddu080
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- Publication type:
- Article
Bezafibrate administration improves behavioral deficits and tau pathology in P301S mice.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 23, p. 5091, doi. 10.1093/hmg/dds355
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- Publication type:
- Article
Functional genomic analysis unravels a metabolic-inflammatory interplay in adrenoleukodystrophy.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 5, p. 1062, doi. 10.1093/hmg/ddr536
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- Publication type:
- Article
Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1‐Related Syndrome.
- Published in:
- Movement Disorders, 2024, v. 39, n. 7, p. 1246, doi. 10.1002/mds.29885
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- Publication type:
- Article
Reply to: "Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion".
- Published in:
- 2019
- By:
- Publication type:
- Letter