Affinage

PRPH

Peripherin-2 · UniProt P23942

Length
346 aa
Mass
39.3 kDa
Annotated
2026-06-10
86 papers in source corpus 16 papers cited in narrative 16 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 5/5 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

Peripherin (PRPH) is a type III neuronal intermediate filament protein whose self-assembly into filamentous networks underlies cytoskeletal architecture in sensory and motor neurons, and disease-associated variants cause neurodegeneration by disrupting this assembly (PMID:15322088, PMID:15446584, PMID:30992453). Frameshift (228delC), missense (D141Y in the rod-domain linker), and splice-donor (c.996+1G>A) mutations all abolish normal filament formation in intermediate-filament-free cells, producing truncated species, aggregates, or punctate inclusions rather than networks, with the splice-donor loss-of-function allele linked to sensory polyneuropathy in homozygous carriers (PMID:15322088, PMID:15446584, PMID:30992453). Peripherin abundance is tightly controlled: it is transcriptionally activated by Sp1 binding to a GC-rich promoter element (PMID:7622044), post-transcriptionally regulated by miR-9 and miR-105 targeting of its 3'UTR (PMID:30385300), and turned over by gigaxonin-dependent degradation, such that loss of gigaxonin causes peripherin accumulation and aggregation in patient motor neurons and is sufficient to drive giant axons, neuroinflammation, and neuronal loss when peripherin is overexpressed in gigaxonin-null mice (PMID:25398950, PMID:37137704). In the cochlea, peripherin is required for type II spiral ganglion neuron innervation of outer hair cells and thereby drives the afferent sensory arm of the medial olivocochlear efferent reflex that protects hearing from noise damage (PMID:25965946, PMID:36226085). Peripherin is also exploited by Enterovirus-A71 for CNS invasion, with surface peripherin promoting viral entry and intracellular peripherin supporting genome replication through interactions with viral components and the host GTPase Rac1 (PMID:33871166).

Mechanistic history

Synthesis pass · year-by-year structured walk · 10 steps
  1. 1994 Low

    Established the genomic organization and candidate regulatory architecture of human PRPH, framing how tissue- and injury-specific expression might be controlled.

    Evidence Genomic sequencing and comparative analysis across human, rat, and mouse

    PMID:7806235

    Open questions at the time
    • Regulatory elements identified only by sequence conservation, not experimentally validated
    • No functional reporter test of the proposed NGF, Hox, or heat-shock elements
  2. 1995 High

    Identified a direct transcriptional activator of PRPH, answering how the gene is switched on at the promoter level.

    Evidence Gel retardation, methylation interference, supershift, and reporter co-transfection with Sp1 in vitro and in vivo

    PMID:7622044

    Open questions at the time
    • Does not establish how Sp1 activity is restricted to neurons
    • Other promoter/intronic elements not dissected
  3. 2004 Medium

    Demonstrated that PRPH coding mutations disrupt filament network assembly, providing the first mechanistic link between PRPH lesions and cytoskeletal disorganization.

    Evidence Transfection of 228delC and D141Y mutants in intermediate-filament-free cells with immunofluorescence; NF-L co-expression rescue attempt

    PMID:15322088 PMID:15446584

    Open questions at the time
    • Single cellular overexpression system, not endogenous neurons
    • Aggregate toxicity mechanism not defined
  4. 2008 Medium

    Defined the in vivo spatial specificity of the PRPH promoter, showing it drives expression in sensory neurons and more limited motor neuron populations.

    Evidence BAC-EGFP knockin transgenic mice with fluorescence imaging and IHC

    PMID:18709437

    Open questions at the time
    • Promoter elements responsible for cell-type specificity not mapped
    • Does not address protein function
  5. 2014 High

    Placed PRPH within a degradation axis, showing gigaxonin controls peripherin protein levels and that gigaxonin loss is sufficient for peripherin aggregation.

    Evidence GAN patient iPSC-derived motor neurons with lentiviral gigaxonin rescue, Western blot, immunofluorescence

    PMID:25398950

    Open questions at the time
    • Direct ubiquitination of peripherin by a gigaxonin-containing ligase not demonstrated biochemically
    • Relationship between aggregation and neuronal death not established here
  6. 2015 High

    Defined a discrete physiological role for peripherin in the auditory system, identifying it as required for type II SGN innervation of outer hair cells and the sensory arm of the olivocochlear reflex.

    Evidence Prph knockout mice with immunolabeling, ABR, DPOAE, and efferent suppression assays

    PMID:25965946

    Open questions at the time
    • Molecular basis of why filament loss abolishes type II innervation unknown
    • Does not distinguish developmental versus maintenance requirement
  7. 2018 Medium

    Identified post-transcriptional control of peripherin, showing miR-9 and miR-105 regulate PRPH mRNA stability and are dysregulated in ALS.

    Evidence 3'UTR luciferase reporters, endogenous mRNA stability assays, qPCR of ALS spinal cord

    PMID:30385300

    Open questions at the time
    • Causal contribution of miRNA loss to ALS aggregation not demonstrated in vivo
    • Single neuronal cell line for endogenous validation
  8. 2019 High

    Linked a human loss-of-function splice variant to disease and confirmed loss of filament-forming capacity, connecting PRPH dysfunction to sensory polyneuropathy.

    Evidence RNA/protein studies and filament assembly assay in IF-free cells plus population GWAS and neurological recall of homozygous carriers

    PMID:30992453

    Open questions at the time
    • Mechanism connecting filament loss to peripheral nerve pathology not resolved
    • Penetrance and modifiers not characterized
  9. 2021 High

    Established peripherin as a host factor exploited by EV-A71 for CNS invasion, distinguishing entry and replication roles and identifying Rac1 as a partner.

    Evidence In vivo co-localization, siRNA/overexpression in motor neuron-like and neuroblastoma cells, viral entry/replication assays, Co-IP with viral components

    PMID:33871166

    Open questions at the time
    • Structural basis of peripherin-viral component interaction not defined
    • Mechanism by which surface peripherin promotes entry unresolved
  10. 2023 High

    Demonstrated that peripherin accumulation is sufficient to cause neurodegeneration in the absence of gigaxonin, completing the gigaxonin-peripherin pathological axis.

    Evidence Prph overexpressor x Gan knockout double-mutant mice with histology, immunofluorescence, and behavior

    PMID:37137704

    Open questions at the time
    • Does not isolate which downstream events (filament disorganization vs inflammation) drive neuronal loss
    • Therapeutic reversibility not tested

Open questions

Synthesis pass · forward-looking unresolved questions
  • The biochemical mechanism linking peripherin filament assembly to specific neuronal functions (type II SGN innervation, axon regeneration, sensory nerve maintenance) and the direct enzymology of its gigaxonin-dependent turnover remain unresolved.
  • No structural model of peripherin filament assembly or mutant aggregation
  • Direct ubiquitin ligase biochemistry on peripherin not reconstituted
  • Mechanistic coupling between filament integrity and synaptic/innervation phenotypes undefined

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 3 GO:0001618 virus receptor activity 1
Localization
GO:0005856 cytoskeleton 3 GO:0005886 plasma membrane 1
Pathway
R-HSA-112316 Neuronal System 2 R-HSA-1643685 Disease 2
Partners
GANRAC1SP1

Evidence

Reading pass · 16 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2004 A 1-bp deletion in PRPH exon 1 (PRPH228delC) produces a truncated peripherin species of 85 amino acids that disrupts neurofilament network assembly when expressed in SW13 cells, demonstrating that frameshift mutations in PRPH can cause cytoskeletal disorganization. Cell transfection (SW13 cells devoid of intermediate filaments), immunofluorescence imaging of neurofilament network The Journal of biological chemistry Medium 15322088
2004 A missense mutation D141Y in the rod domain linker region of PRPH causes peripherin to form aggregates instead of a filamentous network in transfected cells; NF-L co-expression could not rescue the mutant from aggregation, indicating the mutation intrinsically impairs peripherin self-assembly. Transient transfection of mutant PRPH in cell lines, immunocytochemistry Brain pathology (Zurich, Switzerland) Medium 15446584
2019 A low-frequency splice-donor variant in PRPH (c.996+1G>A) leads to loss-of-function: when over-expressed in a cell line devoid of intermediate filaments, the variant protein fails to form the normal filamentous structure and instead produces punctate protein inclusions, confirming that peripherin's filament-forming capacity requires the intact splice site. RNA and protein studies, overexpression in intermediate-filament-free cell line, immunofluorescence; population-level genome-wide association and neurological recall study Nature communications High 30992453
2015 Peripherin (Prph) is required for type II spiral ganglion neuron (SGN) innervation of outer hair cells; Prph-null mice lack type II SGN outer hair cell contacts while type I SGN innervation is normal. Loss of type II SGN innervation abolishes both contralateral and ipsilateral medial olivocochlear efferent-mediated suppression of the cochlear amplifier, identifying type II SGNs as the sensory driver of the olivocochlear reflex. Prph knockout mouse model, immunolabeling, auditory brainstem response, distortion-product otoacoustic emission measurements, efferent suppression assay Nature communications High 25965946
2022 Prph knockout mice show disrupted type II SGN outer spiral bundle innervation and attenuated contralateral suppression of the medial olivocochlear (MOC) reflex; however, direct electrical stimulation of MOC efferents still suppresses DPOAEs, indicating that Prph loss affects the afferent sensory arm rather than the efferent motor arm of the otoprotective circuit. Prph-KO mice suffer permanent high-frequency hearing loss after noise exposure that wildtype mice are protected from, consistent with loss of the MOC feedback circuit. Prph knockout mouse model, DPOAE suppression (contralateral and direct electrical), ABR threshold measurement, noise-exposure paradigm Frontiers in neurology High 36226085
2021 Peripherin (PRPH) facilitates Enterovirus-A71 (EV-A71) invasion of the central nervous system: surface-expressed PRPH promotes viral entry into motor neuron-like and neuroblastoma cells, while intracellular PRPH influences viral genome replication through physical interactions with structural and non-structural viral components. PRPH does not play a role during coxsackievirus A16 infection, demonstrating specificity for EV-A71. EV-A71 also exploits PRPH-interacting partner Rac1, identified as a potential druggable target. Co-localization in infected mice (IHC), siRNA knockdown and overexpression in cell lines, viral entry and replication assays, co-immunoprecipitation with viral components EMBO reports High 33871166
2014 Motor neurons differentiated from GAN patient iPSCs accumulate NF-L and peripherin (PRPH) protein and form PRPH aggregates. Reintroduction of gigaxonin (via lentiviral vector or stable transgene) normalizes NEFL and PRPH levels and eliminates PRPH aggregates, demonstrating that gigaxonin mediates degradation of PRPH and that loss of gigaxonin is sufficient to cause peripherin aggregation. iPSC-derived motor neurons from GAN patients, lentiviral gigaxonin rescue, Western blot for protein levels, immunofluorescence for aggregate detection Human molecular genetics High 25398950
2023 Peripherin overexpression in gigaxonin-null mice (Gan-/-;TgPer) drives neurofilament disorganization, axonal swellings ('giant axons'), neuroinflammation, and loss of cortical and spinal neurons, demonstrating that peripherin accumulation is sufficient to cause neurodegeneration when gigaxonin-mediated degradation is absent. Transgenic mouse genetics (Prph overexpressor × Gan knockout), histology, immunofluorescence, behavioral testing The Journal of neuroscience High 37137704
1995 Transcriptional activation of the peripherin (Prph) gene depends on a G+C-rich promoter element (PER3) that binds transcription factor Sp1 in vitro (gel retardation and methylation interference) and in vivo. A 3-bp mutation abolishing Sp1 binding eliminates reporter expression from PER3+PER1 constructs, and Sp1 over-expression stimulates PER3-driven transcription, identifying Sp1 as a direct transcriptional activator of PRPH. Gel retardation assay, methylation interference, anti-Sp1 supershift, reporter gene transfection with mutagenesis, Sp1 co-transfection Gene High 7622044
1994 The human PRPH gene has a conserved structure of 9 exons separated by 8 introns, and its 5' flanking region contains conserved potential regulatory elements including a nerve growth factor negative regulatory element, a Hox protein binding site, and a heat shock element, suggesting these elements control tissue-specific and injury-specific expression. Genomic DNA sequencing, comparative sequence analysis across human, rat, and mouse Genomics Low 7806235
2018 miR-105 and miR-9 bind the 3'UTRs of PRPH (and NEFL, INA) mRNAs to regulate their mRNA stability; both miRNAs are down-regulated in ALS spinal cord and endogenously regulate PRPH mRNA levels in a neuronal-derived cell line, implicating miRNA-mediated post-transcriptional control in peripherin stoichiometry and IF aggregation in ALS. 3'UTR luciferase reporter assays, endogenous mRNA stability assay in neuronal cell line, qPCR of ALS patient spinal cord Brain research Medium 30385300
2021 Peripherin (Prph) expression is initially present in both type I and type II spiral ganglion neurons (SGNs) but becomes progressively restricted to type II SGN cell bodies by postnatal day 8, while processes of both types continue to express Prph until around P30; the restriction to type II cell bodies and central processes is complete by P30 and maintained through adulthood up to 9 months. Transgenic Prph-eGFP reporter mice, fluorescence imaging and immunohistochemistry at multiple developmental time points Frontiers in cellular neuroscience Medium 34211371
2008 The human PRPH genomic locus drives fluorescent EGFP reporter expression concomitant with neuronal cell fate acquisition during mouse development; in adult transgenic mice, sensory neurons are labeled in both peripheral and central nervous system, while spinal motor neurons show more limited expression, establishing the spatial specificity of the PRPH promoter in vivo. BAC-based EGFP knockin transgenic mouse, fluorescence imaging of embryos and adults, immunohistochemistry Transgenic research Medium 18709437
2020 shRNA-mediated knockdown of PRPH in bone marrow mesenchymal stem cells (BMMSCs) from Wuzhishan mini pigs reduces cell migration capacity, as assessed by scratch assay, transwell migration assay, and filamentous actin staining, indicating that peripherin regulates cytoskeletal dynamics required for BMMSC migration. shRNA knockdown, scratch assay, transwell migration assay, F-actin staining Stem cells international Low 33101422
2006 Peripherin/rds (PRPH2/RDS, a distinct gene from PRPH peripherin) forms a fusion-competent complex with ROM-1 for photoreceptor outer segment membrane fusion; this finding is specifically about PRPH2/RDS and ROM-1, not the neuronal peripherin PRPH gene. COS cell transfection, cell-free fusion assay Experimental eye research Low 17055485
2026 Elements of the Xenopus laevis prph gene promoter and intron 1 are necessary for neuronal expression; deletion and motif analyses in transgenic X. laevis identified cis-regulatory regions sufficient to drive reporter expression in peripheral nerves and during axon regeneration, supporting conserved intrinsic regulation of peripherin during nerve outgrowth. Transgenic X. laevis with EGFP reporters driven by prph promoter/intron deletions, in vivo imaging during limb development and regeneration Biology open Medium 42145051

Source papers

Stage 0 corpus · 86 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2002 Retinal degeneration mutants in the mouse. Vision research 728 11853768
2000 Nucleotide excision repair in yeast. Mutation research 295 10915862
2016 Maternal plasma folate impacts differential DNA methylation in an epigenome-wide meta-analysis of newborns. Nature communications 205 26861414
2013 Genome-wide methylation analysis and epigenetic unmasking identify tumor suppressor genes in hepatocellular carcinoma. Gastroenterology 184 24012984
2004 A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis. The Journal of biological chemistry 143 15322088
1998 Corneal function during normal and high serum glucose levels in diabetes. Investigative ophthalmology & visual science 81 9430539
2004 A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis. Brain pathology (Zurich, Switzerland) 79 15446584
1997 Yeast Rad7-Rad16 complex, specific for the nucleotide excision repair of the nontranscribed DNA strand, is an ATP-dependent DNA damage sensor. The Journal of biological chemistry 75 9268290
1990 Hypoxic effects on corneal morphology and function. Investigative ophthalmology & visual science 67 2387685
1995 Corneal hydration control in diabetes mellitus. Investigative ophthalmology & visual science 65 7890490
2015 Type II spiral ganglion afferent neurons drive medial olivocochlear reflex suppression of the cochlear amplifier. Nature communications 57 25965946
2019 Molecular signatures of retinal ganglion cells revealed through single cell profiling. Scientific reports 56 31673015
2020 The Neglected Genes of ALS: Cytoskeletal Dynamics Impact Synaptic Degeneration in ALS. Frontiers in cellular neuroscience 55 33281562
2019 Effect of rice protein hydrolysates on the short-term and long-term retrogradation of wheat starch. International journal of biological macromolecules 55 31726166
2018 Human notochordal cell transcriptome unveils potential regulators of cell function in the developing intervertebral disc. Scientific reports 53 30150762
2010 Integrative gene-tissue microarray-based approach for identification of human disease biomarkers: application to amyotrophic lateral sclerosis. Human molecular genetics 52 20530642
2004 The NEF4 complex regulates Rad4 levels and utilizes Snf2/Swi2-related ATPase activity for nucleotide excision repair. Molecular and cellular biology 51 15226437
2010 A novel peripherin gene (PRPH) mutation identified in one sporadic amyotrophic lateral sclerosis patient. Neurobiology of aging 50 20363051
2022 The 2022 Lady Estelle Wolfson lectureship on neurofilaments. Journal of neurochemistry 49 35950263
1998 The DNA-dependent ATPase activity of yeast nucleotide excision repair factor 4 and its role in DNA damage recognition. The Journal of biological chemistry 47 9497356
2010 Selective knockdown of NMDA receptors in primary afferent neurons decreases pain during phase 2 of the formalin test. Neuroscience 44 20974228
2016 Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource. Genome research 42 28003435
2018 Direct Reprogramming of Spiral Ganglion Non-neuronal Cells into Neurons: Toward Ameliorating Sensorineural Hearing Loss by Gene Therapy. Frontiers in cell and developmental biology 38 29492404
2014 The Y141C knockin mutation in RDS leads to complex phenotypes in the mouse. Human molecular genetics 38 25001182
2011 Gold(I) complexes of water-soluble diphos-type ligands: synthesis, anticancer activity, apoptosis and thioredoxin reductase inhibition. Dalton transactions (Cambridge, England : 2003) 38 21826354
2014 Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin. Human molecular genetics 37 25398950
2012 Energy landscape of the prion protein helix 1 probed by metadynamics and NMR. Biophysical journal 37 22225810
2018 MiR-105 and miR-9 regulate the mRNA stability of neuronal intermediate filaments. Implications for the pathogenesis of amyotrophic lateral sclerosis (ALS). Brain research 35 30385300
1994 Morphology and function of the corneal endothelium after long-term contact lens wear. Investigative ophthalmology & visual science 34 8206725
2022 Exploring the neurogenic differentiation of human dental pulp stem cells. PloS one 32 36331951
2021 Developmental Changes in Peripherin-eGFP Expression in Spiral Ganglion Neurons. Frontiers in cellular neuroscience 32 34211371
2007 Chimeric tymovirus-like particles displaying foot-and-mouth disease virus non-structural protein epitopes and its use for detection of FMDV-NSP antibodies. Vaccine 30 17499404
2016 Identification of KRT16 as a target of an autoantibody response in complex regional pain syndrome. Experimental neurology 29 27773721
2020 Molecular testing on bronchial washings for the diagnosis and predictive assessment of lung cancer. Molecular oncology 25 32441866
2016 Corneal Hydration Control in Fuchs' Endothelial Corneal Dystrophy. Investigative ophthalmology & visual science 25 27661858
2001 Transcription of intermediate filament genes is enhanced in focal cortical dysplasia. Acta neuropathologica 25 11563628
2003 Is platelet aggregation a more important contributor than platelet adhesion to the overall platelet-related primary haemostasis measured by PFA-100? Thrombosis research 24 12818254
2011 Characterization of the propanil biodegradation pathway in Sphingomonas sp. Y57 and cloning of the propanil hydrolase gene prpH. Journal of hazardous materials 23 21974851
1999 Synergistic interaction between yeast nucleotide excision repair factors NEF2 and NEF4 in the binding of ultraviolet-damaged DNA. The Journal of biological chemistry 23 10446201
2022 Multiple roles for the cytoskeleton in ALS. Experimental neurology 22 35714755
2021 Enterovirus-A71 exploits peripherin and Rac1 to invade the central nervous system. EMBO reports 20 33871166
2014 In vivo detection of peripherin-specific autoreactive B cells during type 1 diabetes pathogenesis. Journal of immunology (Baltimore, Md. : 1950) 18 24610011
1994 The structure of the human peripherin gene (PRPH) and identification of potential regulatory elements. Genomics 18 7806235
1992 Chromosomal localisation of the mouse and human peripherin genes. Genetical research 18 1378416
2017 Identification of Antibody Against SNRPB, Small Nuclear Ribonucleoprotein-Associated Proteins B and B', as an Autoantibody Marker in Crohn's Disease using an Immunoproteomics Approach. Journal of Crohn's & colitis 15 28204086
2008 Transgenic mice expressing the Peripherin-EGFP genomic reporter display intrinsic peripheral nervous system fluorescence. Transgenic research 15 18709437
1996 Recovery from induced corneal edema and endothelial morphology after long-term PMMA contact lens wear. Optometry and vision science : official publication of the American Academy of Optometry 15 8725020
1995 Functional measurements on the enlarged endothelial cells of corneal transplants. Transactions of the American Ophthalmological Society 15 8719671
2022 An integrative analysis of miRNA and mRNA expression in the brains of Alzheimer's disease transgenic mice after real-world PM2.5 exposure. Journal of environmental sciences (China) 14 35717088
2019 Evaluating the Effects of Platelet-Rich Plasma and Amniotic Viscous Fluid on Inflammatory Markers in a Human Coculture Model for Osteoarthritis. Arthroscopy : the journal of arthroscopic & related surgery : official publication of the Arthroscopy Association of North America and the International Arthroscopy Association 13 31395181
2019 A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy. Nature communications 11 30992453
2020 Sodium-hydrogen exchanger 6 (NHE6) deficiency leads to hearing loss, via reduced endosomal signalling through the BDNF/Trk pathway. Scientific reports 10 32107410
2006 ROM-1 potentiates photoreceptor specific membrane fusion processes. Experimental eye research 10 17055485
1991 The peripherin gene maps to mouse chromosome 15. Genomics 10 2004788
2022 Short amplicon reverse transcription-polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis. Human mutation 9 35476365
1995 Transcriptional activation of the neuronal peripherin-encoding gene depends on a G + C-rich element that binds Sp1 in vitro and in vivo. Gene 9 7622044
2025 Cell and molecular profiles in peripheral nerves shift toward inflammatory phenotypes in diabetic peripheral neuropathy. The Journal of clinical investigation 7 40828619
2022 An induced pluripotent stem cell-based model identifies molecular targets of vincristine neurotoxicity. Disease models & mechanisms 7 36518084
2021 RNA Biological Characteristics at the Peak of Cell Death in Different Hereditary Retinal Degeneration Mutants. Frontiers in genetics 7 34777465
1995 Peripherin gene is linked to keratin 18 gene on human chromosome 12. Somatic cell and molecular genetics 7 7541564
2024 Tetrahedral DNA-Based Ternary Recognition Ratiometric Fluorescent Probes for Real-Time In Situ Resolving Lysosome Subpopulations in Living Cells via Cl-, Ca2+, and pH. Analytical chemistry 6 39382097
2023 Ionic mononuclear [Fe] and heterodinuclear [Fe,Ru] bis(diphenylphosphino)alkane complexes: Synthesis, spectroscopy, DFT structures, cytotoxicity, and biomolecular interactions. Journal of inorganic biochemistry 6 36801621
2022 Noise-induced hearing loss vulnerability in type III intermediate filament peripherin gene knockout mice. Frontiers in neurology 6 36226085
2018 Differentiation of Human Embryonic Stem Cells to Sympathetic Neurons: A Potential Model for Understanding Neuroblastoma Pathogenesis. Stem cells international 6 30515222
2025 The segregation of Calb1, Calb2, and Prph neurons reveals distinct and mixed neuronal populations and projections to hair cells in the inner ear and central nuclei. Developmental dynamics : an official publication of the American Association of Anatomists 5 41165193
2024 Specific biomarkers and neurons distribution of different brain regions in largemouth bass (Micropterus salmoides). Frontiers in endocrinology 5 38745953
2023 A New Mouse Model of Giant Axonal Neuropathy with Overt Phenotypes and Neurodegeneration Driven by Neurofilament Disorganization. The Journal of neuroscience : the official journal of the Society for Neuroscience 5 37137704
2024 Deciphering the molecular landscape of human peripheral nerves: implications for diabetic peripheral neuropathy. bioRxiv : the preprint server for biology 4 38915676
2021 Peripheral pigmented lesions in ABCA4-associated retinopathy. Ophthalmic genetics 4 33706644
2002 Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3. Journal of the peripheral nervous system : JPNS 4 12090300
2020 A Validated LC-MS/MS Method for Simultaneous Determination of 3-O-Acetyl-11-Keto-β-Boswellic Acid (AKBA) and its Active Metabolite Acetyl-11-Hydroxy-β-Boswellic Acid (Ac-11-OH-BA) in Rat Plasma: Application to a Pharmacokinetic Study. Journal of chromatographic science 3 32134105
2020 Targeted next-generation sequencing study in familial ALS-FTD Portuguese patients negative for C9orf72 HRE. Journal of neurology 3 32638105
2010 Peripherin-reactive antibodies in mouse, rabbit, and human blood. Journal of proteome research 3 20113007
1994 Effects of long term extended wear of PMMA lenses on corneal function: a case report. Journal of the American Optometric Association 3 7822677
2026 Synergistic DLP bioprinting of high-fidelity nerve guidance conduits using a chitosan-collagen methacryloyl conductive bioink with neurotrophic factors. International journal of biological macromolecules 1 41558558
2025 GABAB Receptor Modulation of Membrane Excitability in Human Pluripotent Stem Cell-Derived Sensory Neurons by Baclofen and α-Conotoxin Vc1.1. Journal of neurochemistry 1 39871624
2025 Developmental differentiation of mouse inner ear neuron subpopulations resolved with a peripherin-promoter reporter within the Grm8 locus. Scientific reports 1 40133378
2025 Clinical, neuropathological, and biochemical characterization of ALS in a large CHCHD10 R15L family. medRxiv : the preprint server for health sciences 1 41040684
2024 Casein kinase-2 inhibition promotes retinal ganglion cell survival after acute intraocular pressure elevation. Neural regeneration research 1 37862216
2020 The Peripherin Gene Regulates the Migration of Bone Marrow Mesenchymal Stem Cells in Wuzhishan Mini Pigs. Stem cells international 1 33101422
2026 Comprehensive insights into sepsis-induced cardiac dysfunction through proteomics and metabolomics. BMC research notes 0 41566375
2026 Small molecules induces dorsal root ganglion satellite glial cells to differentiate into sensory neuron-like cells. Cells & development 0 41690597
2026 Clinical and biochemical characterization of amyotrophic lateral sclerosis in a CHCHD10 R15L family. Brain : a journal of neurology 0 41911331
2026 Visualization of peripheral nerves in developing and regenerating limbs using a novel peripherin reporter line of Xenopus laevis. Biology open 0 42145051
2026 Evaluation of serum neurofilament light chain, GFAP, and peripherin as biomarkers in hereditary transthyretin amyloidosis. Scientific reports 0 42259879
2002 [Variation of the peripherin gene in Chinese with or without high myopia]. Yi chuan = Hereditas 0 16135441

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