Polyclonal Antibody (Concentrated): ALPL
- Known as:
- Polyclonal Antibody (Concentrated): ALPL
- Catalog number:
- PA1004
- Product Quantity:
- 100μg
- Category:
- -
- Supplier:
- Bouster Immunoleader
- Gene target:
- Polyclonal Antibody (Concentrated): ALPL
Related genes to: Polyclonal Antibody (Concentrated): ALPL
- 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: Polyclonal Antibody (Concentrated): ALPL
Related articles to: Polyclonal Antibody (Concentrated): ALPL
- Hypophosphatasia (HPP) is a rare inherited metabolic bone disorder caused by pathogenic variants in the gene, with a wide clinical spectrum ranging from severe pediatric forms to mild adult-onset disease. In contrast, heterozygous variants in are a recognized cause of autosomal dominant short stature, often associated with advanced bone age and premature growth plate closure. We report a 16-yr-old girl evaluated for severe disproportionate short stature with growth arrest during early adolescence. Her medical history included benign childhood epilepsy, mild intellectual disability, and enamel abnormalities. Biochemical evaluation revealed persistently low serum and bone-specific alkaline phosphatase levels, while calcium-phosphate metabolism was otherwise normal. Genetic testing identified a heterozygous pathogenic variant (c.1426G>A; p.Glu476Lys), inherited from an asymptomatic father, consistent with autosomal dominant HPP with minimal clinical expression. Additionally, a maternally inherited variant of uncertain significance (c.511G>C; p.Ala171Pro) was detected. Based on phenotypic correlation and family segregation, the growth phenotype is more plausibly explained by -related growth plate dysfunction, while the variant likely represents an incidental or mildly expressed finding. This case highlights the importance of careful genotype-phenotype correlation and cautious interpretation of multiple genetic findings in the evaluation of severe short stature. - Source: PubMed
Publication date: 2026/02/15
Silva Joana AzevedoCosta Ana Rita AMazeda InêsMota CéuAbreu MariaBorges TeresaMendes Catarina - 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