Ask about this productRelated genes to: REEP1 antibody
- Gene:
- REEP1 NIH gene
- Name:
- receptor accessory protein 1
- Previous symbol:
- C2orf23
- Synonyms:
- FLJ13110, SPG31, Yip2a
- Chromosome:
- 2p11.2
- Locus Type:
- gene with protein product
- Date approved:
- 2004-04-27
- Date modifiied:
- 2019-04-23
Related products to: REEP1 antibody
Related articles to: REEP1 antibody
- Hereditary spastic paraplegia (HSP) is a genetically neurodegenerative disorder with limited epidemiological data in Korea. This study aimed to characterize the genetic landscape of HSP in a large Korean cohort. We analyzed 657 patients with suspected HSP using Sanger sequencing and a targeted next-generation sequencing (NGS) panel covering 54 HSP-related genes. Variants were classified according to American College of Medical Genetics and Genomics/Association for Molecular Pathology guidelines, and copy number variations (CNVs) were detected using in-house methods and multiplex ligation-dependent probe amplification. Pathogenic or likely pathogenic variants were identified in 121 patients (18%), with SPAST (83%) and ATL1 (6%) being the most frequently mutated genes. Notably, 5% of SPAST mutations were CNVs, underscoring the importance of CNV detection. Among the identified variants, 23 novel mutations were discovered, primarily in SPAST (19), REEP1 (3), and SACS (1), expanding the mutational spectrum of HSP. The diagnostic yield was higher with NGS (25%) compared to Sanger sequencing (16%), reflecting the panel's broader gene coverage. This study highlights the predominance of SPAST and ATL1 mutations in Korean HSP patients and emphasizes the utility of targeted NGS panels, particularly for detecting CNVs and novel variants. Despite these advances, the majority of cases remain unresolved, suggesting the need for broader sequencing approaches to uncover additional genetic factors. These findings provide a foundation for improved diagnostic strategies and personalized treatment in HSP. - Source: PubMed
Publication date: 2026/05/30
Jang Mi-AeJang Ja-HyunKim Byoung JoonSung Duk Hyun - In the premolecular era, mammalian samples were embedded in epoxy resin blocks, such as Epon or Poly/Bed, for future evaluation by electron microscopy. However, use of these archival specimens for more modern mutation characterization studies can be challenging. The aim of this study was to determine if genomic DNA could be extracted from osmicated archival epoxy-embedded tissues to a quality suitable for short-amplicon PCR amplification. - Source: PubMed
Publication date: 2025/09/28
Niggel Jessica KAguirre Gustavo DMurgiano Leonardo - Phosphatase and tensin homolog (PTEN) is a critical regulator of cell proliferation, differentiation, and inflammatory balance. However, its downstream proteomic effects in periodontal ligament stem cells (PDLSCs) remain poorly understood. This study aimed to elucidate the proteomic alterations induced by PTEN inhibition and identify potential molecular pathways underlying periodontal regeneration. - Source: PubMed
Publication date: 2026/03/20
Phothichailert SuphalakNowwarote NunthawanKornsuthisopon ChatvadeeMurakami ShinyaSrithanyarat Supreda SuphanantachatOsathanon Thanaphum - Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder characterized by progressive spasticity and lower limb weakness. The most common forms of autosomal dominant HSP are caused by pathogenic variants in SPAST (SPG4 or HSP-SPAST), ATL1 (SPG3A or HSP-ATL1), and REEP1 (SPG31 or HSP-REEP1). - Source: PubMed
Publication date: 2026/02/24
Kang CeRajalingam RajasumiWalls ZacharyHuang JanaSun ChristineRudaks Laura IYeow DennisRasheed AsharZhang Jenny WHamed MoathBreza MarianthiSchaake SusenVekhande ChetanMassa JasonMassa Robyn EShetty AakashSue Carolyn MCambi FrancaSuchowersky OksanaVulinovic FrancaPetkovic SonjaKlein ChristineLohmann KatjaMarras ConnieKumar Kishore R - The aim of this study was to analyze gene co-expression in skeletal muscle of calves with or without creep-feeding during the pre-weaning phase. Forty-eight F1 uncastrated male Angus-Nellore calves were divided into two groups: G1 - no creep-feeding, and G2 - creep-feeding. After weaning (210 days), all animals were kept in the feedlot for 180 days under the same conditions. Weaning weight, backfat thickness, and intramuscular fat content were significantly higher in G2, with intramuscular fat and marbling score being 17.2% and 14.0% higher, respectively, compared with G1 (P < 0.05). Longissimus thoracis muscle samples were collected at weaning for transcriptome analysis (RNA-Seq) in 12 animals of each group. Gene co-expression analysis using the CEMiTool R package identified seven modules; five showed differential activity between groups (adjusted P < 0.002). Modules 1, 2, and 3 showed the greatest association with treatments. Hub genes and enrichment in biological pathways and processes were identified in these modules. The absence of supplementation was associated with increased connectivity of hub genes involved in insulin signaling, oxidative metabolism, and cell cycle regulation, including CDKN1A, FOXO1, and NAMPT. These genes were enriched in processes related to lipid oxidation and response to ketone bodies, suggesting reduced myogenic and adipogenic activity. Notably, FOXO1 has context-dependent effects on adipogenesis, acting as both an inducer and inhibitor depending on the differentiation stage. In contrast, supplementation increased the activity of hub genes involved in cell signaling, muscle development, and differentiation, such as ITGB6, REEP1, TPCN1, PPARA, PTPN11, and MAP3K20, and enriched processes associated with muscle and adipose cell development. In conclusion, creep-feeding supplementation during the pre-weaning phase altered gene co-expression in skeletal muscle, activating pathways related to myogenesis, adipogenesis, and energy metabolism. These results suggest potential lasting molecular effects consistent with increased intramuscular fat deposition during finishing. - Source: PubMed
Publication date: 2025/12/18
Reolon Henrique GonçalvesBorges João Pedro MartinsLiberal Gabriel Luiz NavarroRamírez-Zamudio German DarioPereira Guilherme LuisTorrecilhas Juliana AkamineBaldassini Welder AngeloBuzanskas Marcos EliMachado Neto Otávio RodriguesChardulo Luis Artur LoyolaCuri Rogério Abdallah