| Mutation in the peripherin gene is associated cone-rod dysfunction or dominant maculopathy. | Recessive pediatric-onset cone-rod dysfunction or dominant maculopathy in a consanguineous family harboring the peripherin mutation p.Arg220Gln.
Khan AO. | 04/4/2020 |
| Genome-wide association study of sural nerve conduction amplitude and velocity in 7045 Icelanders and find a low-frequency splice-donor variant in PRPH associated with reduced amplitude of the sural nerve action potential, but not with sural nerve conduction velocity. | A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy.
Bjornsdottir G, Ivarsdottir EV, Bjarnadottir K, Benonisdottir S, Gylfadottir SS, Arnadottir GA, Benediktsson R, Halldorsson GH, Helgadottir A, Jonasdottir A, Jonasdottir A, Jonsdottir I, Kristinsdottir AM, Magnusson OT, Masson G, Melsted P, Rafnar T, Sigurdsson A, Sigurdsson G, Skuladottir A, Steinthorsdottir V, Styrkarsdottir U, Thorgeirsson G, Thorleifsson G, Vikingsson A, Gudbjartsson DF, Holm H, Stefansson H, Thorsteinsdottir U, Norddahl GL, Sulem P, Thorgeirsson TE, Stefansson K., Free PMC Article | 06/1/2019 |
| Desmin, Glial Fibrillary Acidic Protein, Vimentin, and Peripherin are type III intermediate filaments that have roles in health and disease [review] | Type III Intermediate Filaments Desmin, Glial Fibrillary Acidic Protein (GFAP), Vimentin, and Peripherin.
Hol EM, Capetanaki Y., Free PMC Article | 07/28/2018 |
| To discover of Phosphorylated autoantigens Peripherin as a Major Humoral Autoantigen in Type 1 Diabetes Mellitus. | Discovery of Phosphorylated Peripherin as a Major Humoral Autoantigen in Type 1 Diabetes Mellitus.
Doran TM, Morimoto J, Simanski S, Koesema EJ, Clark LF, Pels K, Stoops SL, Pugliese A, Skyler JS, Kodadek T., Free PMC Article | 11/11/2017 |
| In patients with HD, a panel using calretinin and peripherin with or without MAP-2 may be most helpful in identifying transition zones | Utility of Peripherin Versus MAP-2 and Calretinin in the Evaluation of Hirschsprung Disease.
Chisholm KM, Longacre TA. | 08/5/2017 |
| interaction between disease-causing RAB7A mutants and peripherin could play an important role in Charcot-Marie-Tooth type 2B neuropathy | Charcot-Marie-Tooth type 2B disease-causing RAB7A mutant proteins show altered interaction with the neuronal intermediate filament peripherin.
Cogli L, Progida C, Thomas CL, Spencer-Dene B, Donno C, Schiavo G, Bucci C., Free PMC Article | 06/29/2013 |
| A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration. | Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
Martins-de-Souza D, Guest PC, Mann DM, Roeber S, Rahmoune H, Bauder C, Kretzschmar H, Volk B, Baborie A, Bahn S. | 04/26/2012 |
| 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. | A novel peripherin gene (PRPH) mutation identified in one sporadic amyotrophic lateral sclerosis patient.
Corrado L, Carlomagno Y, Falasco L, Mellone S, Godi M, Cova E, Cereda C, Testa L, Mazzini L, D'Alfonso S. | 07/23/2011 |
| 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 | Expression of peripherin in human cochlea.
Liu W, Kinnefors A, Boström M, Rask-Andersen H. | 06/25/2011 |
| although the mechanisms underlying peripherin co-localization in Bunina bodies are unknown, peripherin could be involved in forming these inclusions | Peripherin partially localizes in Bunina bodies in amyotrophic lateral sclerosis.
Mizuno Y, Fujita Y, Takatama M, Okamoto K. | 05/28/2011 |
| 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. | Distinct biochemical signatures characterize peripherin isoform expression in both traumatic neuronal injury and motor neuron disease.
McLean J, Liu HN, Miletic D, Weng YC, Rogaeva E, Zinman L, Kriz J, Robertson J. | 10/23/2010 |
| Transgenic mice expressing the PRPH-EGFP genomic reporter display intrinsic peripheral nervous system fluorescence. | Transgenic mice expressing the Peripherin-EGFP genomic reporter display intrinsic peripheral nervous system fluorescence.
McLenachan S, Goldshmit Y, Fowler KJ, Voullaire L, Holloway TP, Turnley AM, Ioannou PA, Sarsero JP. | 01/21/2010 |
| Expression of the 2 markers, peripherin and alpha-internexin, in a small round cell tumor strongly favors the diagnosis of neuroblastoma. | A comparative immunohistochemical analysis of small round cell tumors of childhood: utility of peripherin and alpha-internexin as markers for neuroblastomas.
Willoughby V, Sonawala A, Werlang-Perurena A, Donner LR. | 01/21/2010 |
| PKCepsilon through its interaction with peripherin facilitates its aggregation and subsequent cell death | Protein kinase Cepsilon binds peripherin and induces its aggregation, which is accompanied by apoptosis of neuroblastoma cells.
Sunesson L, Hellman U, Larsson C. | 01/21/2010 |
| Peripherin splicing abnormalities occur in amyotrophic lateral sclerosis generating aggregation-prone splice isoforms, one of which causes peripherin aggregation when its expression is upregulated. | An aggregate-inducing peripherin isoform generated through intron retention is upregulated in amyotrophic lateral sclerosis and associated with disease pathology.
Xiao S, Tjostheim S, Sanelli T, McLean JR, Horne P, Fan Y, Ravits J, Strong MJ, Robertson J., Free PMC Article | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis.
Gros-Louis F, Larivière R, Gowing G, Laurent S, Camu W, Bouchard JP, Meininger V, Rouleau GA, Julien JP. | 03/13/2008 |
| Observational study of genotype prevalence. (HuGE Navigator) | Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
Boerkoel CF, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K, Russo P, Kennedy S, Teebi AS, Scavina M, Williams LL, Mancias P, Butler IJ, Krajewski K, Shy M, Lupski JR. | 03/13/2008 |
| peripherin is a novel substrate for Akt in vivo and its phosphorylation may play a role in motor nerve regeneration | Identification of peripherin as a Akt substrate in neurons.
Konishi H, Namikawa K, Shikata K, Kobatake Y, Tachibana T, Kiyama H. | 01/21/2010 |
| 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. | Expression of peripherin in ubiquinated inclusions of amyotrophic lateral sclerosis.
He CZ, Hays AP. | 01/21/2010 |
| 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. | Defective axonal transport of neurofilament proteins in neurons overexpressing peripherin.
Millecamps S, Robertson J, Lariviere R, Mallet J, Julien JP. | 01/21/2010 |