Neurometabolic Diseases Lab

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1 Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy 42
2 Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis 24
3 A view on clinical genetics and genomics in Spain: of challenges and opportunities. Mol Genet Genomic Med. 2016 Jul 108
4 De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females. Clin Genet. 2016 Aug 136
5 Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families. Neurology. 2016 Jul 145
6 Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Daniel J Klionsky et al. Autophagy Volume 12, Issue 1, 2016. 151
7 Targeted activation of CREB in reactive astrocytes is neuroprotective in focal acute cortical injury. Glia. 2016 May 157
8 Altered glycolipid and glycerophospholipid signaling drive inflammatory cascades in adrenomyeloneuropathy. Hum Mol Genet. 2015 Sep 14 252
9 Oxidative stress, mitochondrial and proteostasis malfunction in adrenoleukodystrophy: A paradigm for axonal degeneration. Free Radic Biol Med. 2015 Jun 12. pii: S0891-5849(15)00264-6 215
10 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 191
11 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):92 211
12 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 111
13 Activation of sirtuin 1 as therapy for the peroxisomal disease adrenoleukodystrophy. Cell Death Differ. 2015 Mar 27. doi: 10.1038/cdd.2015.20 232
14 Autophagy induction halts axonal degeneration in a mouse model of X-adrenoleukodystrophy. Acta Neuropathol. 2014 Dec 31. [Epub ahead of print] 293
15 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. 225
16 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 1 190
17 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] 242
18 Mitochondrial dysfunction in central nervous system white matter disorders.Glia. 2014 May 28. doi: 10.1002/glia.22670 273
19 Pharmacological Inhibition of Poly(ADP-Ribose) Polymerases Improves Fitness and Mitochondrial Function in Skeletal Muscle. Cell Metab. 2014 June; 19, 1-8 288
20 PDR-1/hParkin negatively regulates the phagocytosis of apoptotic cell corpses in Caenorhabditis elegans. Cell Death Dis. 2014 Mar 13;5:e1120. 249
 
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