https://transhumanist.ru/index.php?action=history&feed=atom&title=CACNA1F 2026-04-07T15:26:25Z История изменений этой страницы в вики MediaWiki 1.43.6 https://transhumanist.ru/index.php?title=CACNA1F&diff=6030&oldid=prev 2021-05-12T15:07:35Z

<p>Новая страница: «Voltage-dependent L-type calcium channel subunit alpha-1F (Voltage-gated calcium channel subunit alpha Cav1.4) [CACNAF1] ==Publications== {{medline-entry |title...»</p> <p><b>Новая страница</b></p><div>Voltage-dependent L-type calcium channel subunit alpha-1F (Voltage-gated calcium channel subunit alpha Cav1.4) [CACNAF1]<br /> <br /> ==Publications==<br /> <br /> {{medline-entry<br /> |title=Amyloid Precursor-Like Protein 2 deletion-induced retinal synaptopathy related to congenital stationary night blindness: structural, functional and molecular characteristics.<br /> |pubmed-url=https://pubmed.ncbi.nlm.nih.gov/27267879<br /> |abstract=Amyloid precursor protein knockout mice ([[APP]]-KO) have impaired differentiation of amacrine and horizontal cells. [[APP]] is part of a gene family and its paralogue amyloid precursor-like protein 2 ([[APLP2]]) has both shared as well as distinct expression patterns to [[APP]], including in the retina. Given the impact of [[APP]] in the retina we investigated how [[APLP2]] expression affected the retina using [[APLP2]] knockout mice ([[APLP2]]-KO). Using histology, morphometric analysis with noninvasive imaging technique and electron microscopy, we showed that [[APLP2]]-KO retina displayed abnormal formation of the outer synaptic layer, accompanied with greatly impaired photoreceptor ribbon synapses in adults. Moreover, [[APLP2]]-KO displayed a significant decease in ON-bipolar, rod bipolar and type 2 OFF-cone bipolar cells (36, 21 and 63 %, respectively). Reduction of the number of bipolar cells was accompanied with disrupted dendrites, reduced expression of metabotropic glutamate receptor 6 at the dendritic tips and alteration of axon terminals in the OFF laminae of the inner plexiform layer. In contrast, the [[APP]]-KO photoreceptor ribbon synapses and bipolar cells were intact. The [[APLP2]]-KO retina displayed numerous phenotypic similarities with the congenital stationary night blindness, a non-progressive retinal degeneration disease characterized by the loss of night vision. The pathological phenotypes in the [[APLP2]]-KO mouse correlated to altered transcription of genes involved in pre- and postsynatic structure/function, including [[CACNA1F]], [[GRM6]], TRMP1 and Gα0, and a normal scotopic a-wave electroretinogram amplitude, markedly reduced scotopic electroretinogram b-wave and modestly reduced photopic cone response. This confirmed the impaired function of the photoreceptor ribbon synapses and retinal bipolar cells, as is also observed in congenital stationary night blindness. Since congenital stationary night blindness present at birth, we extended our analysis to retinal differentiation and showed impaired differentiation of different bipolar cell subtypes and an altered temporal sequence of development from OFF to ON laminae in the inner plexiform layer. This was associated with the altered expression patterns of bipolar cell generation and differentiation factors, including MATH3, CHX10, [[VSX1]] and [[OTX2]]. These findings demonstrate that [[APLP2]] couples retina development and synaptic genes and present the first evidence that [[APLP2]] expression may be linked to synaptic disease.<br /> |mesh-terms=* Aging<br /> * Amacrine Cells<br /> * Amyloid beta-Protein Precursor<br /> * Animals<br /> * Animals, Newborn<br /> * Cell Differentiation<br /> * Complement System Proteins<br /> * Dendrites<br /> * Eye Diseases, Hereditary<br /> * Gene Deletion<br /> * Genetic Diseases, X-Linked<br /> * Mice, Inbred C57BL<br /> * Mice, Knockout<br /> * Myopia<br /> * Neurogenesis<br /> * Night Blindness<br /> * Photoreceptor Cells, Vertebrate<br /> * Presynaptic Terminals<br /> * RNA, Messenger<br /> * Retinal Bipolar Cells<br /> * Synaptic Transmission<br /> * Transcription Factors<br /> * Transcription, Genetic<br /> |keywords=* Amyloid precursor protein<br /> * Amyloid precursor-like protein 2<br /> * Congenital stationary night blindness<br /> * Differentiation<br /> * Synapses<br /> * Synaptopathy<br /> * Transcription<br /> |full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4897877<br /> }}</div>

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