Neurometabolic Diseases Lab

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1 Inhibition of Gsk3b Reduces Nfkb1 Signaling and Rescues Synaptic Activity to Improve the Rett Syndrome Phenotype in Mecp2-Knockout Mice 24
2 Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia 37
3 Epigenomic signature of adrenoleukodystrophy predicts compromised oligodendrocyte differentiation 42
4 Evaluation of afferent pain pathways in adrenomyeloneuropathic patients 102
5 Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder 106
6 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability 94
7 Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus-Merzbacher disease 127
8 Loss of SIRT2 leads to axonal degeneration and locomotor disability associated with redox and energy imbalance 94
9 Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes 85
10 Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy 165
11 Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis 122
12 A view on clinical genetics and genomics in Spain: of challenges and opportunities. Mol Genet Genomic Med. 2016 Jul 203
13 De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females. Clin Genet. 2016 Aug 258
14 Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families. Neurology. 2016 Jul 272
15 Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Daniel J Klionsky et al. Autophagy Volume 12, Issue 1, 2016. 245
16 Targeted activation of CREB in reactive astrocytes is neuroprotective in focal acute cortical injury. Glia. 2016 May 255
17 Altered glycolipid and glycerophospholipid signaling drive inflammatory cascades in adrenomyeloneuropathy. Hum Mol Genet. 2015 Sep 14 373
18 Oxidative stress, mitochondrial and proteostasis malfunction in adrenoleukodystrophy: A paradigm for axonal degeneration. Free Radic Biol Med. 2015 Jun 12. pii: S0891-5849(15)00264-6 334
19 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 323
20 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):92 312
 
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