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Deficiency of aminopeptidase P1 causes behavioral hyperactivity, cognitive deficits, and hippocampal neurodegeneration.
Bae YS, Yoon SH, Han JY, Woo J, Cho YS, Kwon SK, Bae YC, Kim D, Kim E, Kim MH. Bae YS, et al. Genes Brain Behav. 2018 Feb;17(2):126-138. doi: 10.1111/gbb.12419. Epub 2017 Sep 15. Genes Brain Behav. 2018. PMID: 28834604 Free article.
Metabolic diseases affect various organs including the brain. Accumulation or depletion of substrates frequently leads to brain injury and dysfunction. Deficiency of aminopeptidase P1, a cytosolic proline-specific peptidase encoded by the Xpnpep1 gene, causes an inb …
Metabolic diseases affect various organs including the brain. Accumulation or depletion of substrates frequently leads to brain injur …
Selection of novel reference genes for use in the human central nervous system: a BrainNet Europe Study.
Durrenberger PF, Fernando FS, Magliozzi R, Kashefi SN, Bonnert TP, Ferrer I, Seilhean D, Nait-Oumesmar B, Schmitt A, Gebicke-Haerter PJ, Falkai P, Grünblatt E, Palkovits M, Parchi P, Capellari S, Arzberger T, Kretzschmar H, Roncaroli F, Dexter DT, Reynolds R. Durrenberger PF, et al. Acta Neuropathol. 2012 Dec;124(6):893-903. doi: 10.1007/s00401-012-1027-z. Epub 2012 Aug 5. Acta Neuropathol. 2012. PMID: 22864814
We conducted an analysis of genome-wide changes of gene expression in the human central nervous system (CNS) covering several neurological disorders and regions, including the spinal cord, and were able to identify a number of novel stable reference genes. ...We fou …
We conducted an analysis of genome-wide changes of gene expression in the human central nervous system (CNS) covering several …
Quantitative analysis of human endogenous retrovirus-K transcripts in postmortem premotor cortex fails to confirm elevated expression of HERV-K RNA in amyotrophic lateral sclerosis.
Garson JA, Usher L, Al-Chalabi A, Huggett J, Day EF, McCormick AL. Garson JA, et al. Acta Neuropathol Commun. 2019 Mar 18;7(1):45. doi: 10.1186/s40478-019-0698-2. Acta Neuropathol Commun. 2019. PMID: 30885274 Free PMC article.
Data was analysed by the 2(-Ct) method with normalisation against two reference genes, GAPDH and XPNPEP1. Geometric mean HERV-K RNA expression levels in the premotor cortex of ALS patients were not found to be different from the expression levels in non-ALS controls. ...
Data was analysed by the 2(-Ct) method with normalisation against two reference genes, GAPDH and XPNPEP1. Geometric mean HERV-K RNA e …
Developmental retardation, microcephaly, and peptiduria in mice without aminopeptidase P1.
Yoon SH, Bae YS, Mun MS, Park KY, Ye SK, Kim E, Kim MH. Yoon SH, et al. Biochem Biophys Res Commun. 2012 Dec 14;429(3-4):204-9. doi: 10.1016/j.bbrc.2012.10.104. Epub 2012 Nov 3. Biochem Biophys Res Commun. 2012. PMID: 23131567
In addition, there is no direct evidence to associate a deficiency in APP1 with metabolic diseases. Although two human subjects with reduced APP activity exhibited peptiduria, it is unclear which of the three APP isoforms is responsible for this disorder. In this study, we …
In addition, there is no direct evidence to associate a deficiency in APP1 with metabolic diseases. Although two human subjects with …
Genes from a translational analysis support a multifactorial nature of white matter hyperintensities.
Lopez LM, Hill WD, Harris SE, Valdes Hernandez M, Munoz Maniega S, Bastin ME, Bailey E, Smith C, McBride M, McClure J, Graham D, Dominiczak A, Yang Q, Fornage M, Ikram MA, Debette S, Launer L, Bis JC, Schmidt R, Seshadri S, Porteous DJ, Starr J, Deary IJ, Wardlaw JM. Lopez LM, et al. Stroke. 2015 Feb;46(2):341-7. doi: 10.1161/STROKEAHA.114.007649. Epub 2015 Jan 13. Stroke. 2015. PMID: 25586835 Free PMC article.
RESULTS: Of 126 spontaneously hypertensive stroke-prone rat genes, 10 were nominally associated with WMH volume or score in subjects from LBC1936, of which 5 (AFP, ALB, GNAI1, RBM8a, and MRPL18) were associated with both WMH volume and score (P<0.05); 2 of the 10 (XPNPEP1 …
RESULTS: Of 126 spontaneously hypertensive stroke-prone rat genes, 10 were nominally associated with WMH volume or score in subjects from LB …