ALPL predesign siRNA
- Known as:
- ALPL predesign small interfearing RNA
- Catalog number:
- RI10261
- Category:
- -
- Supplier:
- Abgen
- Gene target:
- ALPL predesign siRNA
Related genes to: ALPL predesign siRNA
- Gene:
- ALPL NIH gene
- Name:
- alkaline phosphatase, biomineralization associated
- Previous symbol:
- HOPS
- Synonyms:
- TNSALP, TNALP, TNAP
- Chromosome:
- 1p36.12
- Locus Type:
- gene with protein product
- Date approved:
- 1986-01-01
- Date modifiied:
- 2018-08-08
Related products to: ALPL predesign siRNA
Related articles to: ALPL predesign siRNA
- Inorganic pyrophosphate (PPi) is a key inhibitor of ectopic calcification, yet transcriptional regulation of genes controlling its systemic production and degradation (ABCC6, ALPL, ANKH, and ENPP1) remains poorly understood. We hypothesized that PPi homeostasis is regulated by an evolutionarily conserved transcription factor (TF) network. Promoter motif analysis combined with ATAC-seq revealed conserved enrichment of TF binding sites, including FOXA1, HNF4A, and SREBF1, across mouse and human orthologues. Bulk and single-cell RNA-seq together with RT-qPCR analyses in wild-type and Abcc6 mice showed hepatocytes as major cell type expressing the most relevant genes maintaining PPi homeostasis. Further inference analysis identifies a conserved transcriptional program that regulates systemic PPi balance across mice and humans. Functionally, mice showed an age-dependent inverse correlation between plasma PPi and serum alkaline phosphatase (AP) activity, strongest during early life. Abcc6 mice displayed persistently reduced but gradually increasing PPi levels and altered Pi/PPi ratios during aging. In humans, plasma PPi correlated inversely with AP activity and positively with Pi in both controls and ABCC6-deficient pseudoxanthoma elasticum patients. Together, these findings support a conserved TF-associated regulatory program linking PPi homeostasis gene expression with circulating mineralization-related factors across physiological and pathological states. - Source: PubMed
Publication date: 2026/07/10
Tamatey VirgilVárhegyi MartinBlaha BenceVan Wynsberghe JudithLion LonaAhmadi ZahiraJuhász DénesBata EmeseMárton Dániel TóthMuhyiddeen MuazuNagy Anikó IlonaMartinez-Jimenez Celia PVanakker OlivierArányi TamásSzeri Flóra - Recent advances in engineering adeno-associated virus (AAV) capsids capable of crossing the blood-brain barrier (BBB) have led to the development of numerous variants aimed at enhancing central nervous system gene delivery. Over the past decade, as new BBB-penetrant capsids were reported or independently identified through our own capsid library screening, we systematically evaluated their performance in adult marmosets, using a standardized experimental framework. Here, we present a cross-comparison of eleven AAV variants, predominantly AAV9-derived, alongside native AAV9 following systemic administration. Whole-brain reporter expression was quantitatively assessed using uniform imaging and analysis pipelines to enable relative comparison across animals. Under these conditions, most previously reported and newly identified BBB-penetrant variants-including those obtained through our own screening efforts-did not exhibit brain transduction levels clearly distinguishable from those of AAV9 based on whole-brain fluorescence intensity. In contrast, VCAP-102 consistently produced markedly higher brain-wide reporter expression across animals, accompanied by substantially increased vector genome copy numbers in the marmoset cortex, with most GFP-positive cells corresponding to neurons. These findings provide a systematic benchmark for evaluating BBB-penetrant AAV capsids in non-human primates and identify VCAP-102 as a highly efficient vector for systemic brain gene delivery. - Source: PubMed
Publication date: 2026/06/16
Matsuzaki YasunoriKonno AyumuSakamoto KenjiUchida YasuoTerasaki TetsuyaHirai Hirokazu - Proximal muscle weakness is a recognized feature of hypophosphatasia (HPP), although significant structural muscle pathology is not typically observed. We report a 48-year-old woman with a 20-year history of progressive gait disturbance, proximal muscle weakness (Medical Research Council grade 2-4), and recurrent low-trauma fractures. Laboratory evaluation revealed persistently low serum alkaline phosphatase, and genetic testing identified a heterozygous likely pathogenic variant in (NM_000478.6:c.1559del; p.[Leu520Argfs*86]), confirming the diagnosis of HPP. However, severe muscle weakness and extensive fatty infiltration on muscle magnetic resonance imaging were disproportionate to what would be expected from HPP alone, prompting further evaluation. Additional genetic analysis identified a previously unreported homozygous intronic deletion in (NM_001849.4:c.1771-18_1771-3del), classified as likely pathogenic and predicted to affect splicing with uncertain protein consequences, confirming concurrent collagen VI-related muscular dystrophy (COL6-RD). Family genetic testing identified the same variant in the proband's 16-year-old daughter, who was subsequently diagnosed with HPP and found to be a carrier of COL6-RD. This case highlights that HPP and muscular dystrophy can coexist and underscores the importance of comprehensive neuromuscular evaluation when muscle weakness is present in patients with HPP. - Source: PubMed
Publication date: 2026/07/02
Im Yu JinSohn Young BaeChoi Yong JunJang Mi-AeSung Duk HyunChung Yoon-Sok - Pyle disease is a rare metaphyseal dysplasia caused by loss-of-function variants in SFRP4, leading to abnormal cortical modeling with relative preservation of trabecular bone. The mechanisms involved in severe and persistent bone pain in adult patients remain incompletely understood. - Source: PubMed
Publication date: 2026/06/16
Lizcano FernandoAvilés ElianaLópez CristianMaradei-Anaya SilviaBallesteros-García Maria CamilaBustamante LizethLuna FredyO'Meara MiguelValenzuela Alex - Odonto-hypophosphatasia (odonto-HPP) is a mild form of hypophosphatasia (HPP) characterised by premature exfoliation of primary and/or permanent teeth accompanied by low serum alkaline phosphatase (ALP) activity levels, without abnormalities of the skeletal system. Tooth agenesis (TA) is a common developmental anomaly characterised by the absence of one or more teeth due to the failure of tooth formation. In this study, the present authors report on a family simultaneously affected by odonto-HPP and TA for the first time. Comprehensive genetic analysis identified two novel missense variants (c.103G>A and c.247G>A) in the ALPL gene associated with odonto-HPP and no pathogenic variants in the reported TA genes, which may expand the genetic spectrum of odonto-HPP and imply an unforeseen additional dental abnormality associated with HPP. - Source: PubMed
Xu Tao YunGuo Xin YueZhang Bai ZeDuan Xiao Hong