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Impaired Ca(2+) Sensitivity of a Novel GCAP1 Variant Causes Cone Dystrophy and Leads to Abnormal Synaptic Transmission Between Photoreceptors and Bipolar Cells.
Marino V, Dal Cortivo G, Maltese PE, Placidi G, De Siena E, Falsini B, Bertelli M, Dell'Orco D. Marino V, et al. Int J Mol Sci. 2021 Apr 14;22(8):4030. doi: 10.3390/ijms22084030. Int J Mol Sci. 2021. PMID: 33919796 Free PMC article.
Here, we present clinical and biochemical data on a novel isolate GCAP1 variant leading to a double amino acid substitution (p.N104K and p.G105R) and associated with cone dystrophy (COD) with an unusual phenotype. Severe alterations of the electroretinogram were observed u …
Here, we present clinical and biochemical data on a novel isolate GCAP1 variant leading to a double amino acid substitution (p.N104K and p.G …
Aberrant hippocampal transmission and behavior in mice with a stargazin mutation linked to intellectual disability.
Caldeira GL, Inácio AS, Beltrão N, Barreto CAV, Rodrigues MV, Rondão T, Macedo R, Gouveia RP, Edfawy M, Guedes J, Cruz B, Louros SR, Moreira IS, Peça J, Carvalho AL. Caldeira GL, et al. Mol Psychiatry. 2022 May;27(5):2457-2469. doi: 10.1038/s41380-022-01487-w. Epub 2022 Mar 7. Mol Psychiatry. 2022. PMID: 35256745 Free PMC article.
Here, we investigate a mutant form of the TARP family member stargazin, described in an ID patient. Molecular dynamics analyses predicted that the ID-associated stargazin variant, V143L, weakens the overall interface of the AMPAR:stargazin complex and impairs the stability …
Here, we investigate a mutant form of the TARP family member stargazin, described in an ID patient. Molecular dynamics analyses predicted …
Fasudil treatment in adult reverses behavioural changes and brain ventricular enlargement in Oligophrenin-1 mouse model of intellectual disability.
Meziane H, Khelfaoui M, Morello N, Hiba B, Calcagno E, Reibel-Foisset S, Selloum M, Chelly J, Humeau Y, Riet F, Zanni G, Herault Y, Bienvenu T, Giustetto M, Billuart P. Meziane H, et al. Hum Mol Genet. 2016 Jun 1;25(11):2314-2323. doi: 10.1093/hmg/ddw102. Epub 2016 May 4. Hum Mol Genet. 2016. PMID: 27146843 Free article.
Functional studies in rodent models suggest that OPHN1 linked ID is a consequence of abnormal synaptic transmission and shares common pathophysiological mechanisms with other cognitive disorders. ...Here, we report that chronic treatment in adult mouse with F …
Functional studies in rodent models suggest that OPHN1 linked ID is a consequence of abnormal synaptic transmission and …
Effect of sodium valproate on somatosensory evoked potentials in juvenile myoclonic epilepsy.
Erdem H, Yiğit A, Culcuoğlu A, Mutluer N. Erdem H, et al. Ups J Med Sci. 2001;106(3):197-203. doi: 10.3109/2000-1967-143. Ups J Med Sci. 2001. PMID: 12166512 Clinical Trial.
In addition, in the patient group without treatment, the N20-P24 amplitudes bilaterally and the P24-N34 amplitudes from left sided median nerve stimulation, were greater as compared with the control group. In the SEP latencies, no significant differences were observed betw …
In addition, in the patient group without treatment, the N20-P24 amplitudes bilaterally and the P24-N34 amplitudes from left sided median ne …