Affinage

PRPH

Peripherin · UniProt P41219

Length
470 aa
Mass
53.7 kDa
Annotated
2026-04-28
84 papers in source corpus 13 papers cited in narrative 13 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

Peripherin (PRPH) is a type III intermediate filament protein that functions as a structural cytoskeletal component in neurons, where it self-assembles into filamentous networks essential for axonal integrity and specific neural circuit connectivity. Transcription of PRPH is driven by Sp1 binding to a conserved G+C-rich promoter element, and its mRNA stability is regulated by miR-105 and miR-9, while protein turnover is controlled by gigaxonin-mediated degradation; loss of gigaxonin causes peripherin accumulation, aggregate formation, and neurodegeneration characteristic of giant axonal neuropathy (PMID:7622044, PMID:30385300, PMID:25398950, PMID:37137704). Disease-associated mutations in PRPH—including frameshift truncations and rod-domain missense substitutions—abolish normal filament assembly and produce cytoplasmic aggregates, and a splice-donor loss-of-function variant is associated with axonal polyneuropathy in human carriers (PMID:15322088, PMID:15446584, PMID:30992453). In the cochlea, peripherin is required for type II spiral ganglion neuron innervation of outer hair cells and for the medial olivocochlear efferent reflex that protects against noise-induced hearing loss (PMID:25965946, PMID:36226085).

Mechanistic history

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

    Establishing the genomic architecture of PRPH revealed conserved regulatory motifs (NGF-responsive element, Hox site, heat-shock element) that could explain its tissue-specific and injury-responsive expression, but left transcription factor usage unresolved.

    Evidence Genomic sequencing and cross-species comparative analysis of the PRPH 5′ flanking region

    PMID:7806235

    Open questions at the time
    • Regulatory elements identified by sequence conservation only, not functionally validated
    • No in vivo demonstration of which elements drive neuron-specific expression
  2. 1995 High

    Demonstrating that Sp1 binds the PER3 element in the proximal promoter and is required for transcription established the first defined transcriptional activator of PRPH.

    Evidence Gel shift, methylation interference, anti-Sp1 supershift, mutagenesis of promoter-reporter constructs, and Sp1 co-transfection rescue in cell culture

    PMID:7622044

    Open questions at the time
    • Whether Sp1 is sufficient for neuron-specific expression in vivo is untested
    • Other transcription factors occupying adjacent conserved elements remain uncharacterized
  3. 2004 Medium

    Identification of ALS-associated PRPH mutations (228delC frameshift and D141Y missense) that abolish filament assembly in IF-free cells established that peripherin self-assembly depends on an intact rod domain and that assembly-defective peripherin forms toxic aggregates.

    Evidence Expression of mutant PRPH in SW13 vim− cells lacking endogenous intermediate filaments; immunocytochemistry for filament vs. aggregate phenotype; co-transfection with NF-L

    PMID:15322088 PMID:15446584

    Open questions at the time
    • Frequency and causality of PRPH mutations in ALS cohorts remains uncertain
    • Whether aggregates actively cause toxicity versus being bystanders was not resolved
    • No in vivo animal model of these mutations
  4. 2014 High

    Showing that gigaxonin restoration in GAN patient iPSC-derived motor neurons clears peripherin aggregates established gigaxonin as a direct regulator of PRPH protein turnover, linking PRPH accumulation to giant axonal neuropathy pathogenesis.

    Evidence iPSC-derived motor neurons from GAN patients; lentiviral gigaxonin rescue; Western blot and immunofluorescence

    PMID:25398950

    Open questions at the time
    • The specific ubiquitin-proteasome or autophagy pathway mediating gigaxonin-dependent PRPH degradation was not defined
    • Whether peripherin is a direct gigaxonin substrate or degraded indirectly is unknown
  5. 2015 High

    Prph knockout mice revealed that peripherin is essential for type II spiral ganglion neuron innervation of outer hair cells and for the medial olivocochlear efferent reflex, establishing a specific sensory-circuit function for this intermediate filament.

    Evidence Prph−/− mouse; cochlear immunolabeling; DPOAE suppression audiometry

    PMID:25965946

    Open questions at the time
    • Mechanism by which peripherin loss selectively disrupts type II but not type I SGN innervation is unknown
    • Whether peripherin plays a structural or signaling role in these neurons was not distinguished
  6. 2018 Medium

    Demonstrating that miR-105 and miR-9 target the PRPH 3′UTR to regulate mRNA stability—and that both miRNAs are downregulated in ALS spinal cord—revealed a post-transcriptional layer of peripherin stoichiometry control with disease relevance.

    Evidence 3′UTR luciferase reporter assays; endogenous mRNA measurements in neuronal cell lines; qPCR of ALS patient tissue

    PMID:30385300

    Open questions at the time
    • Causal relationship between miRNA downregulation and PRPH accumulation in patient neurons not established
    • Whether restoring miR-105/miR-9 levels can rescue IF stoichiometry in vivo is untested
  7. 2019 High

    A human PRPH splice-donor loss-of-function variant (c.996+1G>A) that produces assembly-incompetent protein and associates with reduced nerve conduction amplitude provided the first population-level genetic evidence linking PRPH disruption to axonal polyneuropathy.

    Evidence GWAS; RNA/protein characterization in IF-free cell line; nerve conduction studies in variant carriers

    PMID:30992453

    Open questions at the time
    • Penetrance and natural history in homozygous carriers not fully characterized
    • Whether the variant acts via haploinsufficiency or dominant-negative mechanism is unclear
  8. 2021 Medium

    Identifying surface-expressed PRPH as an entry receptor and intracellular PRPH as a replication cofactor for Enterovirus-A71, acting through Rac1, revealed an unexpected non-cytoskeletal function of peripherin in viral pathogenesis.

    Evidence Co-localization in vivo; knockdown and overexpression in motor neuron-like cells; identification of PRPH–Rac1 interaction

    PMID:33871166

    Open questions at the time
    • Mechanism of peripherin surface exposure on neurons not explained
    • Whether PRPH–Rac1 interaction is direct or mediated through adaptor proteins is unresolved
    • Relevance to other enterovirus serotypes unknown
  9. 2022 High

    A second independent Prph knockout study replicated the type II SGN innervation defect and olivocochlear reflex loss, and further demonstrated that Prph−/− mice sustain permanent high-frequency hearing loss after noise exposure, establishing peripherin-dependent circuitry as otoprotective.

    Evidence Prph−/− mouse; cochlear immunolabeling; DPOAE contralateral suppression; ABR thresholds; noise exposure paradigm

    PMID:36226085

    Open questions at the time
    • Whether peripherin-dependent otoprotection is mediated by olivocochlear efferent gain or by intrinsic type II neuron resilience is unresolved
  10. 2023 High

    Overexpressing peripherin on a gigaxonin-null background in mice produced early-onset IF accumulations, giant axons, neuroinflammation, and neuron loss, demonstrating that PRPH disorganization is a primary driver—not merely a correlate—of GAN neurodegeneration.

    Evidence Gan−/−;TgPer double-mutant mouse; immunohistochemistry; behavioral testing; histopathology across sexes

    PMID:37137704

    Open questions at the time
    • Whether reducing peripherin levels in GAN models is sufficient to rescue neurodegeneration is not yet shown
    • Contribution of other IF proteins (e.g., NF-L, NF-M) relative to peripherin in GAN pathology needs quantification

Open questions

Synthesis pass · forward-looking unresolved questions
  • Key open questions include the structural basis of peripherin self-assembly and co-assembly with neurofilament proteins, the ubiquitin ligase complex through which gigaxonin targets peripherin for degradation, the mechanism by which peripherin reaches the neuronal cell surface to serve as a viral receptor, and whether peripherin reduction is therapeutic in GAN.
  • No high-resolution structure of peripherin filaments exists
  • Gigaxonin–peripherin degradation pathway (E3 ligase identity, ubiquitination sites) uncharacterized
  • No therapeutic intervention studies targeting peripherin levels in GAN models

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 3
Localization
GO:0005856 cytoskeleton 4 GO:0005829 cytosol 3 GO:0005886 plasma membrane 1
Pathway
R-HSA-1643685 Disease 4 R-HSA-112316 Neuronal System 2 R-HSA-9709957 Sensory Perception 2
Partners
GANNEFLRAC1

Evidence

Reading pass · 13 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2004 A 1-bp frameshift deletion in PRPH exon 1 (PRPH(228delC)) produces a truncated peripherin species of 85 amino acids that disrupts neurofilament network assembly when expressed in SW13 cells, implicating PRPH mutations in a small percentage of ALS cases. Cell transfection (SW13 cells devoid of endogenous IFs) with mutant PRPH construct; visualization of neurofilament network disruption The Journal of biological chemistry Medium 15322088
2004 A homozygous D141Y substitution in the rod domain linker region of PRPH causes peripherin to form aggregates rather than filamentous networks in transfected cells, and NF-L cannot rescue the assembly defect, indicating that this residue is critical for normal peripherin self-assembly. Transient transfection of mutant PRPH in cell lines; immunocytochemistry to assess filament vs. aggregate formation; co-transfection with NF-L Brain pathology (Zurich, Switzerland) Medium 15446584
2015 Peripherin (Prph) is required for type II spiral ganglion neuron innervation of outer hair cells; Prph-null mice lack this innervation and lose both contralateral and ipsilateral medial olivocochlear efferent-mediated suppression of the cochlear amplifier, demonstrating that type II afferents expressing Prph constitute the sensory drive for the olivocochlear efferent reflex. Prph knockout mouse model; immunolabeling of cochlear innervation; auditory physiology (DPOAE suppression measurements) Nature communications High 25965946
2021 Surface-expressed peripherin (PRPH) facilitates Enterovirus-A71 (EV-A71) viral entry into motor neuron-like cells, while intracellular PRPH influences viral genome replication through interactions with structural and non-structural viral components; PRPH also acts through its interacting partner Rac1 to mediate CNS invasion by EV-A71. Co-localization of PRPH with viral particles in vivo; cell-line knockdown/overexpression assays for viral entry and replication; identification of PRPH-Rac1 interaction EMBO reports Medium 33871166
2014 In motor neurons differentiated from GAN patient iPSCs, peripherin (PRPH) protein accumulates and forms aggregates; restoration of gigaxonin (GAN gene product) via lentiviral vector normalizes PRPH levels and eliminates PRPH aggregates, establishing gigaxonin as a regulator of PRPH protein turnover. iPSC-derived motor neurons from GAN patients; lentiviral gigaxonin rescue; Western blot and immunofluorescence for PRPH levels and aggregate formation Human molecular genetics High 25398950
2019 A low-frequency splice-donor variant in PRPH (c.996+1G>A) causes loss-of-function: when the resulting protein is overexpressed in a cell line devoid of other intermediate filaments, it fails to form normal filamentous structures, yielding punctate protein inclusions instead, and carriers show reduced sural nerve conduction amplitude and risk of axonal polyneuropathy. Genome-wide association study; RNA and protein studies in cell line expressing mutant PRPH; neurological assessment of variant carriers Nature communications High 30992453
1994 The human PRPH gene has a 9-exon/8-intron structure conserved across human, rat, and mouse; the 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 mechanisms for tissue-specific, developmental, and injury-responsive expression. Genomic sequencing; comparative sequence analysis of 5' flanking regions across mammalian species Genomics Medium 7806235
1995 The G+C-rich PER3 element in the first 98 bp of the Prph promoter binds transcription factor Sp1 in vitro and in vivo; a 3-bp mutation abolishing Sp1 binding eliminates reporter gene expression, and co-transfection with an Sp1-expressing plasmid stimulates transcription, establishing Sp1 as a key activator of neuronal peripherin gene transcription. Gel retardation assay; methylation interference; anti-Sp1 antibody supershift; reporter gene transfection with wild-type and mutant promoter constructs; Sp1 co-transfection Gene High 7622044
2018 miR-105 and miR-9 target the 3'UTR of PRPH mRNA (and NEFL, INA) to regulate mRNA stability; both miRNAs are down-regulated in ALS patient spinal cord, and their reduction in a neuronal cell line leads to increased PRPH mRNA steady-state levels, suggesting a mechanism for intermediate filament stoichiometry disruption in ALS. 3'UTR reporter assays; endogenous mRNA stability measurements in neuronal cell line; qPCR of patient spinal cord tissue Brain research Medium 30385300
2023 Overexpression of peripherin (Prph) in the context of gigaxonin (Gan) knockout (Gan-/-;TgPer mice) drives early-onset intermediate filament accumulations composed of peripherin and neurofilament proteins, causing spinal neuron swelling, giant axons (hallmark of GAN), neuroinflammation, and loss of cortical and spinal neurons, demonstrating that PRPH disorganization contributes to GAN neurodegeneration. Double transgenic/knockout mouse model (Gan-/-;TgPer); immunohistochemistry; behavioral testing; histopathology The Journal of neuroscience : the official journal of the Society for Neuroscience High 37137704
2022 Prph knockout mice show disruption of type II spiral ganglion neuron (outer spiral bundle) afferent innervation and substantially attenuated contralateral suppression of the medial olivocochlear reflex, while type I SGN innervation and hearing thresholds remain normal; PrphKO mice are vulnerable to permanent high-frequency hearing loss after noise exposure, confirming the role of Prph-expressing neurons in the otoprotective olivocochlear feedback circuit. Prph knockout mouse; immunolabeling of cochlear innervation; DPOAE measurements (contralateral suppression); ABR thresholds; noise exposure paradigm Frontiers in neurology High 36226085
2020 shRNA-mediated knockdown of PRPH in bone marrow mesenchymal stem cells from Wuzhishan mini pigs reduces their migratory capacity as assessed by scratch assay, transwell migration, and filamentous actin staining, indicating that peripherin regulates cell migration. shRNA knockdown; scratch assay; transwell migration assay; F-actin staining Stem cells international Low 33101422
2006 ROM-1 (the non-glycosylated homolog of peripherin/rds) alone is not fusogenic, but the ROM-1/peripherin-2 (P/rds) complex shows optimal membrane fusion activity in a cell-free fusion assay and COS cell heterologous expression system, suggesting that the C-terminus of P/rds in the context of the ROM-1 complex forms a fusion-competent state required for photoreceptor outer segment membrane renewal. COS-7 heterologous expression; cell-free membrane fusion assay with fluorescently labeled outer segment plasma membrane; peptide competition studies Experimental eye research Medium 17055485

Source papers

Stage 0 corpus · 84 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2002 Retinal degeneration mutants in the mouse. Vision research 723 11853768
2000 Nucleotide excision repair in yeast. Mutation research 294 10915862
2016 Maternal plasma folate impacts differential DNA methylation in an epigenome-wide meta-analysis of newborns. Nature communications 203 26861414
2013 Genome-wide methylation analysis and epigenetic unmasking identify tumor suppressor genes in hepatocellular carcinoma. Gastroenterology 183 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
2018 Human notochordal cell transcriptome unveils potential regulators of cell function in the developing intervertebral disc. Scientific reports 53 30150762
2019 Effect of rice protein hydrolysates on the short-term and long-term retrogradation of wheat starch. International journal of biological macromolecules 52 31726166
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 48 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 34 30385300
1994 Morphology and function of the corneal endothelium after long-term contact lens wear. Investigative ophthalmology & visual science 34 8206725
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
2022 Exploring the neurogenic differentiation of human dental pulp stem cells. PloS one 28 36331951
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 18 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) 13 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
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
2020 Sodium-hydrogen exchanger 6 (NHE6) deficiency leads to hearing loss, via reduced endosomal signalling through the BDNF/Trk pathway. Scientific reports 9 32107410
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
1995 Peripherin gene is linked to keratin 18 gene on human chromosome 12. Somatic cell and molecular genetics 7 7541564
2025 Cell and molecular profiles in peripheral nerves shift toward inflammatory phenotypes in diabetic peripheral neuropathy. The Journal of clinical investigation 6 40828619
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
2021 RNA Biological Characteristics at the Peak of Cell Death in Different Hereditary Retinal Degeneration Mutants. Frontiers in genetics 6 34777465
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
2022 An induced pluripotent stem cell-based model identifies molecular targets of vincristine neurotoxicity. Disease models & mechanisms 5 36518084
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
2024 Deciphering the molecular landscape of human peripheral nerves: implications for diabetic peripheral neuropathy. bioRxiv : the preprint server for biology 2 38915676
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 Synergistic DLP bioprinting of high-fidelity nerve guidance conduits using a chitosan-collagen methacryloyl conductive bioink with neurotrophic factors. International journal of biological macromolecules 0 41558558
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
2002 [Variation of the peripherin gene in Chinese with or without high myopia]. Yi chuan = Hereditas 0 16135441