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PRPH encodes a cytoskeletal protein found in neurons of the peripheral nervous system. Additionally we are shipping Peripherin Antibodies (130) and Peripherin Proteins (8) and many more products for this protein.
Showing 6 out of 12 products:
In patients with HD, a panel using calretinin and peripherin with or without MAP-2 may be most helpful in identifying transition zones
interaction between disease-causing RAB7A (show RAB7A ELISA Kits) mutants and peripherin could play an important role in Charcot-Marie-Tooth type 2B neuropathy
This work contributes to determine the role of PRPH gene variants in ALS. Further studies are necessary to define the mechanisms through which the mutant peripherin could cause ALS phenotype.
study analyzed expression of peripherin(PP) in the cochlea; in organ of Corti, PP seems to be specifically expressed in outer hair cell afferents; small or type II spiral ganglion cell bodies also intensely express PP
although the mechanisms underlying peripherin co-localization in Bunina bodies are unknown, peripherin could be involved in forming these inclusions
Transgenic peripherin isoform expression reveals post-transcriptional changes to the normal expression pattern associated with malformed filaments and intracellular inclusions underlying a role in the pathogenesis of amyotrophic lateral sclerosis.
The data of this experiment document the expression of peripherin in Lewy body-like inclusions , which may provide a clue to the pathogenesis of neurodegeneration in ALS.
Peripherin overexpression in transgenic mice can cause defective transport of type IV neurofilament proteins, a phenomenon that may account for the progressive formation of amyotrophic lateral sclerosis-like spheroids in axons.
peripherin is a novel substrate for Akt (show AKT1 ELISA Kits) in vivo and its phosphorylation may play a role in motor nerve regeneration
Novel C165R mutation of retinal degeneration slow (show PRPH2 ELISA Kits)/peripherin gene in family affected by different patterns of retinal dystrophy (show MERTK ELISA Kits).
ablation of Rom1 (show ROM1 ELISA Kits) results in the conversion of an MD/PD phenotype characterized by cone functional defects and the formation of abnormal Prph2 (show PRPH2 ELISA Kits)/Rom1 (show ROM1 ELISA Kits) complexes to an RP phenotype characterized by rod-dominant functional defects and reductions in total Prph2 (show PRPH2 ELISA Kits) protein. Thus one method by which ROM1 (show ROM1 ELISA Kits) may act as a disease modifier is by contributing to the large variability in PRPH2 (show PRPH2 ELISA Kits)-associated disease phenotype
quantitative FRET analysis in acutely isolated cone OS revealed that the cone degeneration-causing V268I mutation in peripherin-2 (show PRPH2 ELISA Kits) selectively reduced binding to M-opsin without affecting the peripherin-2 (show PRPH2 ELISA Kits) interaction to S-opsin (show OPN1SW ELISA Kits) or rhodopsin (show RHO ELISA Kits)
These results support the idea that mutations may differentially affect Prph2 (show PRPH2 ELISA Kits)'s role as a structural component, and its role as a functional protein key for organizing membrane domains for cellular signalling. These roles may be different in rods and cones, thus contributing to the phenotypic heterogeneity that characterizes diseases associated with Prph2 (show PRPH2 ELISA Kits) mutations.
Data suggest that the underlying molecular mechanisms in amyotrophic lateral sclerosis pathogenesis involve peripherin mis (show AMH ELISA Kits)-splicing and altered homeostasis of nerve fibers.
Eliminating Cngb1 and reducing RDS leads to additive defects in RDS expression levels and rod electroretinogram (ERG) function, (e.g., Cngb1-/-/rds+/- versus rds+/- or Cngb1-/-) but not to additive defects in rod ultrastructure.
In the group of mice manifesting homozygous mutation in the PRPH2 (show PRPH2 ELISA Kits) gene.
Our data suggest that upregulation of PRPH2 (show PRPH2 ELISA Kits) levels in combination with defects in the PRPH2 (show PRPH2 ELISA Kits) function caused by the mutation might be an important mechanism leading to cone degeneration.
Contralateral and ipsilateral olivocochlear efferent-mediated suppression of the cochlear amplifier were absent in Prph null mice.
These data suggest that glycosylation of RDS (show PRPH2 ELISA Kits) is required for RDS (show PRPH2 ELISA Kits) function or stability in cones, a difference that may be due to extracellular versus intradiscal localization of the RDS (show PRPH2 ELISA Kits) glycan in cones versus rods.
Peripherin-2 (show PRPH2 ELISA Kits) links CNGB1 to the light-detector rhodopsin (show RHO ELISA Kits) in outer segments of rod photoreceptors.
This gene encodes a cytoskeletal protein found in neurons of the peripheral nervous system. The encoded protein is a type III intermediate filament protein with homology to other cytoskeletal proteins such as desmin, and is a different protein that the peripherin found in photoreceptors. Mutations in this gene have been associated with susceptibility to amyotrophic lateral sclerosis.
, peripherin 1
, neurofilament 4 (57kD)
, neuronal intermediate filament IF3
, retinal degeneration 2
, retinal degeneration slow protein
, retinal degeneration, slow (retinitis pigmentosa 7)