PVALB, parvalbumin, 5816

N. diseases: 148; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
0.050 Biomarker disease BEFREE Fragile X mental retardation gene (Fmr1) knock-out (KO) mice display core deficits of FXS, including abnormally increased sound-evoked responses, and show a delayed development of parvalbumin (PV) cells. 31698054 2020
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
0.050 Biomarker disease BEFREE Author Correction: Impaired perceptual learning in a mouse model of Fragile X syndrome is mediated by parvalbumin neuron dysfunction and is reversible. 30442922 2019
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
0.050 Biomarker disease BEFREE Impaired perceptual learning in a mouse model of Fragile X syndrome is mediated by parvalbumin neuron dysfunction and is reversible. 30250263 2018
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
0.050 Biomarker disease BEFREE These findings indicate that elevated MMP-9 levels contribute to the development of sensory hypersensitivity by influencing formation of PNNs around PV interneurons suggesting MMP-9 as a new therapeutic target to reduce sensory deficits in FXS and potentially other autism spectrum disorders. 29040407 2018
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
0.050 Biomarker disease BEFREE The abnormal gamma oscillations are consistent with parvalbumin neuron and perineuronal net deficits seen in the Fmr1 KO mouse auditory cortex indicating that the EEG biomarkers are not only clinically relevant, but could also be used to probe cellular and circuit mechanisms of sensory hypersensitivity in FXS. 29605426 2018