ArticleHuman molecular genetics2014
Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus.
Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 30 citations in OpenAlex.
- Heparanase 2 Modulates Vascular Permeability via Heparan Sulfate-Dependent Growth Factor Signaling.Arteriosclerosis, thrombosis, and vascular biology · 2025Article
- Urofacial (Ochoa) syndrome with a founder pathogenic variant in the HPSE2 gene: a case report and mutation origin.Journal of applied genetics · 2025Article
- Current understanding of heparanase 2 regulation, a non-heparanase.Biochemical Society transactions · 2025Article
- Expanding theFrontiers in genetics · 2022Article
- Elucidating the Consequences of Heparan Sulfate Binding by Heparanase 2.Frontiers in oncology · 2020Article
- Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder.Kidney international · 2019Article
- Feedback regulation of RTK signaling in development.Developmental biology · 2019Review
- Congenital Disorders of the Human Urinary Tract: Recent Insights From Genetic and Molecular Studies.Frontiers in pediatrics · 2019Review
- Heparanase attenuates axon degeneration following sciatic nerve transection.Scientific reports · 2018Article
- Heparanase 2 Attenuates Head and Neck Tumor Vascularity and Growth.Cancer research · 2016Article
- Heparanase 2 expression inversely correlates with bladder carcinoma grade and stage.Oncotarget · 2016Article
- From gene discovery to new biological mechanisms: heparanases and congenital urinary bladder disease.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2016Review
- Urinary tract effects of HPSE2 mutations.Journal of the American Society of Nephrology : JASN · 2015Article
- The LRIG family: enigmatic regulators of growth factor receptor signaling.Endocrine-related cancer · 2014Review
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 3 countries.
Funding
Abstract
Urofacial syndrome (UFS; previously Ochoa syndrome) is an autosomal recessive disease characterized by incomplete bladder emptying during micturition. This is associated with a dyssynergia in which the urethral walls contract at the same time as the detrusor smooth muscle in the body of the bladder. UFS is also characterized by an abnormal facial expression upon smiling, and bilateral weakness in the distribution of the facial nerve has been reported. Biallelic mutations in HPSE2 occur in UFS. This gene encodes heparanase 2, a protein which inhibits the activity of heparanase. Here, we demonstrate, for the first time, an in vivo developmental role for heparanase 2. We identified the Xenopus orthologue of heparanase 2 and showed that the protein is localized to the embryonic ventrolateral neural tube where motor neurons arise. Morpholino-induced loss of heparanase 2 caused embryonic skeletal muscle paralysis, and morphant motor neurons had aberrant morphology including less linear paths and less compactly-bundled axons than normal. Biochemical analyses demonstrated that loss of heparanase 2 led to upregulation of fibroblast growth factor 2/phosphorylated extracellular signal-related kinase signalling and to alterations in levels of transcripts encoding neural- and muscle-associated molecules. Thus, a key role of heparanase 2 is to buffer growth factor signalling in motor neuron development. These results shed light on the pathogenic mechanisms underpinning the clinical features of UFS and support the contention that congenital peripheral neuropathy is a key feature of this disorder.
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