NHERF1 Blocking Peptide
- Known as:
- NHERF1 Blocking Peptide
- Catalog number:
- 33r-10786
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Fitzgerald industries international
- Gene target:
- NHERF1 Blocking Peptide
Related genes to: NHERF1 Blocking Peptide
- Gene:
- SLC9A3R1 NIH gene
- Name:
- SLC9A3 regulator 1
- Previous symbol:
- -
- Synonyms:
- NHERF, EBP50, NHERF1
- Chromosome:
- 17q25.1
- Locus Type:
- gene with protein product
- Date approved:
- 1999-02-26
- Date modifiied:
- 2017-04-21
Related products to: NHERF1 Blocking Peptide
Related articles to: NHERF1 Blocking Peptide
- Hypercalcemia in infants is a rare but potentially serious condition characterized by elevated serum calcium levels. We report a case of a two-month-old female presenting with poor feeding, lethargy, irritability, and failure to thrive, and she was found to have hypercalcemia. On examination, she had a weight of 3.1 kg (-3.94 SDS) with normal facial features. Laboratory investigations revealed elevated serum calcium, low phosphate, suppressed parathyroid hormone PTH), and high 1, 25-dihydroxyvitamin D levels. Renal ultrasonography revealed bilateral medullary nephrocalcinosis. Clinical exome sequencing identified a heterozygous missense variant in the SLC9A3R1 gene, leading to a diagnosis of hypophosphatemic nephrolithiasis/osteoporosis-2 (NPHLOP2). She was initially managed with calcium restricted diet, intravenous fluid rehydration, and administration of zoledronic acid. On follow-up at one month, the patient showed significant symptomatic improvement with normalization of serum calcium levels along with weight gain. This case highlights the role of genetic testing to identify rare genetic causes of hypercalcemia during infancy. Early diagnosis and appropriate management of NPHLOP2 can significantly improve an individual's outcomes and quality of life. - Source: PubMed
Publication date: 2026/02/03
Ravi Kumar PadalaBiswas AnkeetDash Deepak KPatro DebasishMadhav Reddy D Sai - BACKGROUNDKidney stone disease (KSD) affects approximately 10% of the population. While genetic factors are known to play a role in KSD, determining the clinical relevance of rare variants in KSD genes identified in adults remains challenging.METHODSThe Swiss Kidney Stone Cohort is a multicenter longitudinal, observational study consisting of kidney stone formers (KSFs) (n = 701) and non-kidney stone formers (NKSFs) (n = 200). Blood and urine samples were collected at enrollment and over 3 years for deep biochemical phenotyping. Results were correlated with rare genetic variants in established KSD genes identified through whole-exome sequencing and classified according to American College of Medical Genetics and Genomics and the Association of Molecular Pathology (ACMG/AMP) criteria.RESULTSCollectively, we found rare (likely) pathogenic (LP/P) variants representing strong KSD risk factors in 6.8% of KSFs, predominantly in genes involved in renal phosphate handling and cystinuria. Detailed biochemical analyses confirmed that KSFs carrying heterozygous LP/P SLC34A3 variants exhibited significant hyperphosphaturia. In contrast, monoallelic LP/P variants in SLC34A1, SLC9A3R1, or CYP24A1, which were also frequent in NKSFs, did not result in the expected biochemical alterations, calling into question their causative role as strong KSD risk factors. In cystinuria, monoallelic SLC7A9 variants represented intermediate risk factors, since they caused biochemical alterations but required additional factors for KSD occurrence, based on frequent LP/P variants in NKSFs. The presence of strong risk factors was associated with higher kidney stone (KS) recurrence over the 3-year observation period, supporting a predictive value for genetic testing.CONCLUSIONSCorrelation of genetic findings with thorough biochemical phenotyping and comparison with NKSFs redefines the clinical relevance of variants in KSD genes and has prognostic value. - Source: PubMed
Publication date: 2026/03/02
Münch JohannesPetrovska JanaFigueiro-Silva JoanaRubio-Aliaga IsabelCabello Elena MIvanovski IvanPapik MichaelOneda BeatriceFuster Daniel GSeeger HaraldErnandez ThomasBuchkremer FlorianWuerzner GregoireDhayat Nasser ARitter AlexanderSegerer StephanRoth BeatRauch AnitaFerraro Pietro ManuelBonny OlivierWagner Carsten ABachmann-Gagescu Ruxandra - The renal solute carrier URAT1 (SLC22A12) is essential for urate homeostasis, with loss-of-function linked to renal hypouricemia, nephrolithiasis and lower gout risk. URAT1 function depends on binding the multi-PDZ domain scaffold protein PDZK1 (NHERF3), with a similar role suggested for the related NHERF1. The molecular basis of these interactions remains poorly understood. Using fluorescence anisotropy, we show that full-length human PDZK1 binds the C-terminal peptide of URAT1 with high affinity (K 170 nM), unlike NHERF1 (K > 70 µM). The PDZ1 domain of PDZK1 alone is sufficient for high-affinity binding (K 160 nM), while PDZ4 provides a secondary site (K 1.35 µM), with both interactions characterized by rapid kinetics. Gel filtration shows that PDZK1 can bind two URAT1 peptides. X-ray structures of individual PDZ domains from PDZK1 and NHERF1 complexed with the URAT1 peptide reveal the underlying molecular basis for selectivity and broad affinity range. Murine Pdzk1 and Nherf1 bind Urat1 with high affinity indicating species-specific interactions. These data provide insights into URAT1 regulation by PDZ scaffold proteins with relevance for understanding urate homeostasis regulation and related disorders. - Source: PubMed
Publication date: 2025/12/24
Mymrikov Evgeny VWirth ChristopheHeinicke Jonas IGoll JulianKern Bianca ASteck ChristophIaroslavtceva Anastasiia KMühlethaler TobiasKöttgen AnnaHunte Carola - Neuroendocrine differentiation (NED) plays a critical role in endocrine therapy resistance and dismal outcomes among prostate cancer (PCa) patients. The emergence of treatment-induced neuroendocrine prostate cancers (t-NEPCs) with the utilization of second-generation androgen receptor (AR) pathway inhibitors (ARPIs) poses a significant challenge, as the molecular underpinnings remain elusive. Here, our investigation unveils a close correlation between heightened levels of opioid receptor membrane protein OPRK1 and treatment-induced NED (t-NED), alongside an adverse prognosis in PCa cohorts. Our findings illuminate that AR represses OPRK1 transcription by binding to its promoter, a regulation amenable to reversal via ARPI administration. Further exploration reveals that OPRK1 stimulation triggers autophagic degradation of REST upon up-regulation and interaction with SLC9A3R1, thereby instigating NED. In essence, OPRK1 experiences negative control by AR and emerges as a pivotal instigator of t-NED. Combining JTC-801 with CQ successfully impedes NEPC progression by impacting the OPRK1/SLC9A3R1/autophagy/REST axis. Our study accentuates OPRK1 as a novel therapeutic target for PCa management and furnishes profound insights into the pathogenesis of t-NEPC. - Source: PubMed
Publication date: 2025/12/07
Liang LinghuiShen ZhiyiZhang YuweiCheng YifeiYao BingFeng NinghanZhao Ruizhe - Dysregulation of cholesterol metabolism can lead to obesity and increase the risk of developing many diseases, including type 2 diabetes and cardiovascular diseases. Our previous studies have identified postsynaptic density-95, disc large, and zonula occludens-1 (PDZ) adaptor proteins Na/H exchange regulatory factor Nherf1 (encoded by ) and Nherf2 (encoded by ) to be potential regulators of cholesterol metabolism in vitro. In this study, we explored their physiological regulatory function in vivo by using Nherf1- and Nherf2-deficient ( and ), and wild-type (C57BL/6) mice. All mice were fed either a chow diet or a cholesterol-enriched Western diet (42% fat, 0.2% cholesterol) for 8 wk starting at 8-wk-old. Our results demonstrate that , but not , mice are resistant to diet-induced obesity. In mice, serum high-density lipoprotein and low-density lipoprotein/very low-density lipoprotein decreased substantially without affecting lipolysis or steroid hormone levels. In addition, distended gallbladders were observed in mice, with reduced bile acid output into the intestine and feces, which correlated with decreased cholesterol reabsorption. This led to attenuated Fxr/Shp signaling in the liver and derepressing transcription in the absence of Nherf2. These findings suggest a potential role of in regulating gallbladder emptying and lipid homeostasis, offering new insights into potential therapeutic targets for treating diet-induced obesity. but not mice demonstrate a resistance to diet-induced obesity. Notably, male mice exhibit impaired glucose tolerance and insulin responsiveness, yet neither sex shows further worsening with diet challenge. In addition, elevated hepatic levels were observed in mice, but there was reduced cholesterol absorption in the ileum, along with enlarged gallbladders and diminished ileal bile acid content, highlighting significant metabolic alterations linked to Nherf2 deficiency. - Source: PubMed
Publication date: 2025/10/31
Dong DachuanShen Wen-JunBittner StefanieChen JiaHao XiaoDonowitz MarkKraemer Fredric BAzhar Salman