Ask about this productRelated genes to: PRPH antibody
- Gene:
- PRPH NIH gene
- Name:
- peripherin
- Previous symbol:
- NEF4
- Synonyms:
- PRPH1
- Chromosome:
- 12q13.12
- Locus Type:
- gene with protein product
- Date approved:
- 1992-02-27
- Date modifiied:
- 2016-01-15
Related products to: PRPH antibody
Related articles to: PRPH antibody
- Familial forms of ALS are potential candidates for gene-directed therapies, but many recently identified genes remain poorly characterized. Here, we provide a comprehensive clinical, neuropathological, and biochemical description of fALS caused by the heterozygous p.R15L missense mutation in the gene CHCHD10. Using a cross-sectional study design, we evaluated five affected and nine unaffected individuals from a large seven-generation pedigree with at least 68 affected members. The pedigree suggests a high (68 - 81%) but incomplete disease penetrance. Through cloning of the disease-allele from distant members of the family, we establish the disease haplotype in the family. Notably, the haplotype was distinct from that of a previously reported p.R15L mutation carrier with ALS, demonstrating that the variant is in a mutational hotspot. The clinical presentation was notable for being highly stereotyped; all affected individuals presented with the rare ALS variant Flail Arm Syndrome (FAS; also known as, brachial amyotrophic diplegia or Vulpian-Bernhardt Syndrome), suggesting greater involvement of the cervical spinal cord. Consistently, neuropathology from one family member demonstrated substantially increased CHCHD10 protein aggregation and neuronal loss (though absent TDP-43 pathology) in the cervical vs. lumbar spinal cord. This FAS phenotype could be captured by a simple timed finger tapping task, suggesting potential utility for this task as a clinical biomarker. Additionally, through analysis of fibroblast lines from 12 mutation carriers, isogenic iPSC cells, and a knockin mouse model, we determined that CHCHD10 with the R15L variant is stably expressed and retains substantial function both in cultured cells and in vivo, in contrast to prior reports. Conversely, we find loss of function (LoF) variants are more common in the population but are not associated with a highly penetrant form of ALS in the UK Biobank (31 in controls; 0 in cases). Together, this argues against LoF and in favor of toxic gain-of-function as the mechanism of disease pathogenesis, similar to the myopathy-causing variants in CHCHD10 (p.G58R and p.S59L). Finally, through proteomic analysis of CSF of variant carriers, we identify that CHCHD10 protein levels are elevated approximately 4-fold in mutation carriers, and that affected and unaffected individuals are differentiated by elevation of two neurofilaments: neurofilament light chain (NfL) and Peripherin (PRPH). Collectively, our findings help set the stage for gene-directed therapy for a devasting form of fALS, by establishing the likely disease mechanism and identifying clinical and fluid biomarkers for target engagement and treatment response. - Source: PubMed
Publication date: 2026/03/30
Kwan Justin YLantz Christian IKorobeynikov Vlad ASnyder AllisonHuang XiaopingHaselhuhn TarynDore Katherine NMadruga AngeloDanielian Laura ESchindler Alice BChia RuthRasheed MemoonaCrook JodySzabo MarcellPortley MakaylaSherer Carolyn MKing Monique CHuang Tzu-HsiangKosa PeterBielekova BibianaWard Michael EGrunseich ChrisShneider Neil ATraynor Bryan JNarendra Derek P - Meso-Neoproterozoic to Cambrian oil fields have been discovered in several regions, including Australia and the Middle East. These findings suggest the presence of potential source rocks, despite their long evolutionary history. In the Zhongtiaoshan area of the southeastern Ordos Basin, several outcrop samples were collected from the Xuzhuang, Cuizhuang, and Baicaoping formations spanning the Meso-Neoproterozoic to Cambrian. Geochemical analyses indicate that the Cuizhuang Formation (Mesoproterozoic) exhibits significant hydrocarbon generation potential, characterized by relatively high total organic carbon (TOC) and + values. In contrast, the other formations appear to have lower source rock potential. Gas chromatography-mass spectrometry (GC-MS) analysis of rock extracts reveals a low Pr/Ph ratio (<1) and a normal alkane distribution, suggesting an anoxic depositional environment. The high distribution of tricyclic terpanes and elevated gammacerane ratios indicate a saline lake facies with substantial algal contributions. Additionally, C steranes dominate the sterane distribution, and the C-C-C sterane pattern follows an "L" distribution, further supporting an algal and aquatic microbial origin. A high sterane/hopane ratio, a low hopane index, and the relative scarcity of homohopanes (e.g., C hopanes) suggest minimal bacterial input. The source rocks were likely deposited in a lagoonal facies under low sea levels, which favored organic matter preservation. During sea-level rises, increased oxygen availability may have led to the oxidation of organic matter. Based on key geochemical biomarker indicators including thermal maturity, depositional environment, and organic matter input, the bitumen in the Xuzhuang Formation was likely derived from Cuizhuang Formation shale source rocks. - Source: PubMed
Publication date: 2026/02/23
Liu HongjunLi ChenFeng ShengbinMa GeChen XinkaiHuang Xueping - The inability of damaged neurons to regenerate poses a significant challenge in the repair of peripheral nerve injuries. Exogenous cell therapies, such as those involving neural stem cells or induced pluripotent stem cells, are limited by immune rejection and ethical concerns. Somatic cells offer a promising alternative, as they can be reprogrammed and differentiated into neuron-like cells, thereby promoting nerve repair. Satellite glial cells (SGCs) within the dorsal root ganglion (DRG) have the capacity to differentiate into multiple cell types. In this study, chemical small molecules were used to replace transcription factors and induce DRG-derived SGCs to differentiate into sensory neuron-like cells. Subsequently, cell viability, morphology, and functionality were evaluated using CCK-8 assays, immunocytochemistry, qRT-PCR, ELISA, confocal calcium imaging, and ultra-high-resolution transmission electron microscopy. The induced cells expressed key sensory neuron markers, including CGRP, PSD95, Synapsin, PRPH, TrkA, TrkB, TrkC, Ret, AnkyrinG, and Brn3a. Moreover, they displayed gene expression patterns associated with sensory neuron development, such as those of Avil, TrkA, Brn3a, Isl1, Runx3, and Shox2. Importantly, these cells exhibited calcium transients in response to KCl, BayK, and capsaicin stimulation. Capsaicin treatment also resulted in increased levels of CGRP and substance P, suggesting that the induced cells exhibit characteristics of mature neurons, including synaptic structures, functional calcium channels, and active signaling pathways. Our findings demonstrate that DRG-derived SGCs can be chemically induced to differentiate into sensory neuron-like cells, representing a novel approach for neuronal cell fate acquisition and a potential cell source for peripheral nerve repair. - Source: PubMed
Publication date: 2026/02/12
Weng XiaohuaYang JinweiMa WeiLi Liyan - Assessment of hydrocarbon contamination in industrial-urban areas is essential for effective environmental risk management. Oil refineries release a wide spectrum of gaseous pollutants and petroleum hydrocarbons, which contribute to the accumulation of light and heavy alkanes in soils and vegetation and to the deterioration of air quality in nearby environments. This study investigated the spatial distribution and molecular fingerprints of petroleum hydrocarbons in the soil-plant system surrounding the Tehran Oil Refinery. Surface soil and plant samples were collected based on the dispersion pattern of gaseous pollutants, and an integrated molecular-spatial approach was applied to determine the refinery's contribution and the ecological implications of contamination. The results showed that refinery activities significantly influence the accumulation and composition of hydrocarbons in adjacent ecosystems. The predominance of mid-chain and semi-heavy alkanes indicates recent and continuous petroleum input, whereas heavier fractions suggest environmental persistence. Although total petroleum hydrocarbon (TPH) concentrations decreased slightly with distance, this trend was not statistically significant. Molecular indices (Pr/Ph, CPI, L/H) confirmed a dominant petrogenic origin with limited biogenic input in specific sites. Spatial overlap between gaseous pollutants (NO, SO) and hydrocarbon hotspots suggested a shared origin and synergistic environmental impacts. Overall, the findings highlight that multi-index molecular fingerprinting is an effective tool for tracing petroleum contamination and demonstrate that hydrocarbon pollution extends at least 10 km downwind of the Tehran refinery. These results provide important insights for environmental risk assessment and sustainable management of urban-industrial ecosystems. - Source: PubMed
Publication date: 2026/01/17
Kazemi MohsenSalajegheh SosanSalajegheh AliMohammadkhan Shirin - Sepsis remains a leading cause of mortality worldwide, with cardiac dysfunction contributing substantially to sepsis-related deaths. Due to the unique biology of myocardial tissue, the mechanisms underlying sepsis-induced cardiac injury are incompletely understood. This exploratory study aimed to apply integrated proteomic and metabolomic profiling to characterize molecular alterations in cardiac tissue from a cecal ligation and puncture mouse model of sepsis. - Source: PubMed
Publication date: 2026/01/21
Ji HeyuXiao TingLi PeijunXu JunmeiCui Yulong