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Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy
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42 |
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Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis
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A view on clinical genetics and genomics in Spain: of challenges and opportunities. Mol Genet Genomic Med. 2016 Jul
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De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females. Clin Genet. 2016 Aug
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Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families. Neurology. 2016 Jul
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Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Daniel J Klionsky et al. Autophagy Volume 12, Issue 1, 2016.
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Targeted activation of CREB in reactive astrocytes is neuroprotective in focal acute cortical injury. Glia. 2016 May
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Altered glycolipid and glycerophospholipid signaling drive inflammatory cascades in adrenomyeloneuropathy. Hum Mol Genet. 2015 Sep 14
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Oxidative stress, mitochondrial and proteostasis malfunction in adrenoleukodystrophy: A paradigm for axonal degeneration. Free Radic Biol Med. 2015 Jun 12. pii: S0891-5849(15)00264-6
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Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities. Mol Genet Metab
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Astrocytes and mitochondria from adrenoleukodystrophy protein (ABCD1)-deficient mice reveal that the adrenoleukodystrophy-associated very long-chain fatty acids target several cellular energy-dependent functions. Biochim Biophys Acta. 2015 May;1852(5):92
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Neuroinflammatory signals in Alzheimer disease and APP/PS1 transgenic mice: correlations with plaques, tangles, and oligomeric species. Journal of Neuropathology and Experimental Neurology. 2015 Apr
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Activation of sirtuin 1 as therapy for the peroxisomal disease adrenoleukodystrophy. Cell Death Differ. 2015 Mar 27. doi: 10.1038/cdd.2015.20
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Autophagy induction halts axonal degeneration in a mouse model of X-adrenoleukodystrophy. Acta Neuropathol. 2014 Dec 31. [Epub ahead of print]
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Deregulation of purine metabolism in Alzheimer's disease. Neurobiol Aging. 2015 Jan;36(1):68-80. doi: 10.1016/j.neurobiolaging.2014.08.004. Epub 2014 Aug 8.
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ABCD2 alters peroxisome proliferator-activated receptor a signaling in vitro, but does not impair responses to fenofibrate therapy in a mouse model of diet-induced obesity. Mol Pharmacol. 2014 Nov;86(5):505-13. doi: 10.1124/mol.114.092742. Epub 2014 Aug 1
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Improvement of the Rett Syndrome Phenotype in a Mecp2 Mouse Model Upon Treatment with Levodopa and a Dopa Decarboxylase Inhibitor. Neuropsychopharmacology. 2014 Jun 11. doi: 10.1038/npp.2014.136. [Epub ahead of print]
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Mitochondrial dysfunction in central nervous system white matter disorders.Glia. 2014 May 28. doi: 10.1002/glia.22670
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Pharmacological Inhibition of Poly(ADP-Ribose) Polymerases Improves Fitness and Mitochondrial Function in Skeletal Muscle. Cell Metab. 2014 June; 19, 1-8
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PDR-1/hParkin negatively regulates the phagocytosis of apoptotic cell corpses in Caenorhabditis elegans. Cell Death Dis. 2014 Mar 13;5:e1120.
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