PCDH21 Blocking Peptide
- Known as:
- PCDH21 Blocking Peptide
- Catalog number:
- 33r-3566
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Fitzgerald industries international
- Gene target:
- PCDH21 Blocking Peptide
Related genes to: PCDH21 Blocking Peptide
- Gene:
- CDHR1 NIH gene
- Name:
- cadherin related family member 1
- Previous symbol:
- PCDH21
- Synonyms:
- KIAA1775, CORD15, RP65
- Chromosome:
- 10q23.1
- Locus Type:
- gene with protein product
- Date approved:
- 2001-02-13
- Date modifiied:
- 2015-11-23
Related products to: PCDH21 Blocking Peptide
Related articles to: PCDH21 Blocking Peptide
- Cone-rod dystrophy (CRD) is a macular degeneration disorder characterized by initial cone cell degeneration. Mutations in CDHR1, a photoreceptor-specific cadherin, have been found to be associated with the incidence of CRD. While studying the function of CDHR1, we observed that the localization of the zebrafish homologue, cdhr1a, resembles that of calyceal process (CPs). When co-labeling CPs using pcdh15b, we observed that cdhr1a, in the outer segment (OS), juxtaposes with pcdh15b, found in the CP. Similar localization patterns were detected in human, macaque, xenopus, ducks, gerbil, and mouse. Using immunoprecipitation and K652 cell aggregation assays, we demonstrate that pcdh15b and cdhr1a can interact and thus potentially link the OS and CP. To analyze the consequences of OS-CP interactions in CRD, we established a mutant line (). Homozygous mutants exhibit minor cone OS defects starting at 15 dpf and severe OS disruption and cell loss by 3 months. Shortening of CPs coincided with cone OS defects which were significantly exacerbated when combined with the loss of pcdh15b. Rod OS defects were mild and delayed until 3-6 months. In conclusion, we propose that cdhr1a and pcdh15b function to link cone OSs with CPs and maintain OS integrity. - Source: PubMed
Publication date: 2026/04/17
Patel Meet KPiedade Warlen PereiraFamulski Jakub K - To report a Japanese family with inherited retinal dystrophy (IRD) in which variants were identified, and to characterize the marked intrafamilial phenotypic variability. - Source: PubMed
Publication date: 2026/02/06
Hirakata ToshiakiGao DanOshima MinamiHara FumihiroNakao ShintaroMurakami Akira - Cone rod dystrophy (CRD) is a macular degeneration disorder characterized by initial cone cell photoreceptor degeneration and subsequently of rod photoreceptors. Mutations in CDHR1, a photoreceptor specific cadherin have been found to be associated with the incidence of cone-rod dystrophy and recapitulated in mouse CDHR1 knockouts. However, the molecular function of CDHR1 remains unknown. CDHR1 has been shown to localize at the leading edge of murine rod nascent outer segment (OS) making junctions to an unknown partner in the inner segment. Using Structured Illumination Microscopy (SIM), we observed that the localization of zebrafish cdhr1a extends from basal nascent OS discs above the periciliary ridge of the inner segment to a considerable length along the OS, akin to calyceal process (CPs). When labeling the CPs using pcdh15b, a CP specific cadherin, we observed that cdhr1a at the leading edge of OS juxtaposes with pcdh15b in the CP. Similar localization patterns were detected in human, macaque, xenopus, ducks, and various rodent PRCs indicating conservation. Importantly, using immunoprecipitation and K652 cell aggregation assays we demonstrate that pcdh15b and cdhr1a can interact and potentially link the OS and CP. To analyze the consequences of OS-CP interactions in CRD, we established a zebrafish mutant line ( ) and analyzed CRD progression at high temporal resolution. Homozygous mutants begin to exhibit minor cone OS morphology defects starting at 15 dpf (days post fertilization) and severe OS disruption and cell loss by 3 months. Rod OS defects were delayed until 3-6 months. Furthermore, we show that loss of cdhr1a function leads to disorganization and shortening of CPs coinciding with cone outer OS defects which is significantly exacerbated when combined with the loss of pcdh15b. In conclusion, we propose that cdhr1a and pcdh15b function to link cone OSs with CPs to maintain proper OS homeostasis thus revealing a potential novel mechanism for CRD. - Source: PubMed
Publication date: 2026/01/14
Patel Meet KPiedade WarlenFamulski Jakub K - : To report on the clinical and genetic spectrum of retinopathy associated with variants in a Hungarian cohort. : A retrospective cohort study was conducted at a single tertiary care referral center. The study enrolled nine patients harboring biallelic variants in the gene. Detailed clinical history, multimodal imaging, electroretinography, and molecular genetics are presented. : We identified four variants predicted to cause loss-of-function and five phenotypes (cone dystrophy, central areolar choroidal dystrophy, cone-rod dystrophy, rod-cone dystrophy, and late-onset macular dystrophy). The most frequent variant was the synonymous c.783G>A (p.Pro261=) variant (10/18 alleles, 55.6%). A novel splice acceptor site variant, c.349-1G>A, and a novel intronic variant, c.1168-10A>G, were also detected. Fundus examination revealed macular atrophy with or without peripheral retinal changes. Full-field electroretinography, available in seven patients, demonstrated decreased light-adapted and extinguished dark-adapted responses in both the rod-cone dystrophy group and patients with macular involvement. OCT imaging indicated ellipsoid zone disruption with foveal sparing in two out of nine patients and severe retinal damage in rod-cone dystrophy cases. : The predominant clinical manifestations of cone dystrophy, cone-rod dystrophy, and macular dystrophy in the Hungarian patient cohort showed heterogeneity, with a rod-cone dystrophy phenotype observed in five of nine cases (55.6%). The natural history of -associated retinopathy typically follows a slow progression, providing a therapeutic window, which makes the disease a candidate for gene therapy. - Source: PubMed
Publication date: 2026/01/19
Takács ÁgnesVarsányi BalázsBarboni MirellaVámos RitaLesch BalázsDobos DominikClapp EmíliaVégh AndrásZobor DittaKnézy KrisztinaNagy Zoltán ZsoltSzabó Viktória - Brain-derived neurotrophic factor (BDNF) protects neurons from degeneration, making it a promising therapeutic target for Alzheimer's disease (AD). However, the genetic regulation resulting from BDNF overexpression in the brain remains to be further illustrated. Using APP/PS1 and rTg4510 mouse models, we analyzed hippocampal transcriptomes after intrahippocampal AAVT42- injection. In APP/PS1 mice with Aβ accumulation, BDNF upregulated genes involved in neuronal signaling and downregulated neurodegenerative pathways. In rTg4510 mice with p-tau pathology, upregulated genes were associated with cell differentiation and neuronal development, while downregulated genes were related to metabolism and biosynthesis. A comparison of differentially expressed genes (DEGs) between the two strains identified eight commonly upregulated genes () and two downregulated genes (, ). Notably, three genes - , -were upregulated in both models, suggesting shared neuroprotective mechanisms. These findings reveal distinct and common genetic responses to BDNF in Aβ and p-tau pathogenesis, supporting its potential as a therapeutic strategy for AD. - Source: PubMed
Publication date: 2025/06/17
Tang SiqiLuo WenshuCheng ChengShen LeshanWu XiaXiao Xiao