Neurometabolic Diseases Lab

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1 Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy. 6
2 Aberrant regulation of the GSK-3β/NRF2 axis unveils a novel therapy for adrenoleukodystrophy. 32
3 SIRT2 in age-related neurodegenerative disorders 25
4 Inhibition of Gsk3b Reduces Nfkb1 Signaling and Rescues Synaptic Activity to Improve the Rett Syndrome Phenotype in Mecp2-Knockout Mice 86
5 Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia 67
6 Epigenomic signature of adrenoleukodystrophy predicts compromised oligodendrocyte differentiation 79
7 Evaluation of afferent pain pathways in adrenomyeloneuropathic patients 132
8 Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder 133
9 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability 120
10 Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus-Merzbacher disease 209
11 Loss of SIRT2 leads to axonal degeneration and locomotor disability associated with redox and energy imbalance 123
12 Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes 114
13 Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy 193
14 Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis 149
15 A view on clinical genetics and genomics in Spain: of challenges and opportunities. Mol Genet Genomic Med. 2016 Jul 228
16 De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females. Clin Genet. 2016 Aug 283
17 Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families. Neurology. 2016 Jul 304
18 Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Daniel J Klionsky et al. Autophagy Volume 12, Issue 1, 2016. 268
19 Targeted activation of CREB in reactive astrocytes is neuroprotective in focal acute cortical injury. Glia. 2016 May 284
20 Altered glycolipid and glycerophospholipid signaling drive inflammatory cascades in adrenomyeloneuropathy. Hum Mol Genet. 2015 Sep 14 408
 
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