PRPH Antibody

1. Desmin, Glial Fibrillary Acidic Protein, Vimentin, and Peripherin are type III intermediate filaments that have roles in health and disease [review] PMID: 29196434
2. To discover of Phosphorylated autoantigens Peripherin as a Major Humoral Autoantigen in Type 1 Diabetes Mellitus. PMID: 27185639
3. In patients with HD, a panel using calretinin and peripherin with or without MAP-2 may be most helpful in identifying transition zones PMID: 26469323
4. interaction between disease-causing RAB7A mutants and peripherin could play an important role in Charcot-Marie-Tooth type 2B neuropathy PMID: 23179371
5. 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. PMID: 20363051
6. 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 PMID: 21088854
7. although the mechanisms underlying peripherin co-localization in Bunina bodies are unknown, peripherin could be involved in forming these inclusions PMID: 21241994
8. 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. PMID: 20533992
9. 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. PMID: 14675609
10. 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. PMID: 16787413
11. peripherin is a novel substrate for Akt in vivo and its phosphorylation may play a role in motor nerve regeneration PMID: 17569669
12. Peripherin splicing abnormalities occur in amyotrophic lateral sclerosis generating aggregation-prone splice isoforms, one of which causes peripherin aggregation when its expression is upregulated. PMID: 18287500
13. Expression of the 2 markers, peripherin and alpha-internexin, in a small round cell tumor strongly favors the diagnosis of neuroblastoma. PMID: 18528283
14. Transgenic mice expressing the PRPH-EGFP genomic reporter display intrinsic peripheral nervous system fluorescence. PMID: 18709437

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HGNC: 9461

OMIM: 170710

KEGG: hsa:5630

STRING: 9606.ENSP00000257860

UniGene: Hs.37044