ArticleMolecular genetics and metabolism2018
ACE phenotyping in Gaucher disease.
Article in Molecular genetics and metabolism, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1.Orphanet journal of rare diseases · 2022Guideline
- Differential Effects of Losartan and Finerenone on Diabetic Remodeling, Oxidative Stress and ACE Activity in the Gastrointestinal Tract of Streptozotocin-Induced Diabetic Rats.International journal of molecular sciences · 2025Article
- Effects of Angiotensin-I-Converting Enzyme (ACE) Mutations Associated with Alzheimer's Disease on Blood ACE Phenotype.Biomedicines · 2024Article
- ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.Biomedicines · 2024Article
- Effect of ACE mutations on blood ACE phenotype parameters.PloS one · 2024Article
- Macrophage angiotensin-converting enzyme reduces atherosclerosis by increasing peroxisome proliferator-activated receptor α and fundamentally changing lipid metabolism.Cardiovascular research · 2023Article
- Urinary ACE Phenotyping as a Research and Diagnostic Tool: Identification of Sex-Dependent ACE Immunoreactivity.Biomedicines · 2023Article
- Glucosylsphingosine (Lyso-Gb1) as a reliable biomarker in Gaucher disease: a narrative review.Orphanet journal of rare diseases · 2023Review
- Blood ACE Phenotyping for Personalized Medicine: Revelation of Patients with Conformationally Altered ACE.Biomedicines · 2023Article
- An observational study to investigate the relationship between plasma glucosylsphingosine (lyso-Gb1) concentration and treatment outcomes of patients with Gaucher disease in Japan.Orphanet journal of rare diseases · 2022Observational
- Predictive potential of ACE phenotyping in extrapulmonary sarcoidosis.Respiratory research · 2022Article
- Cryo-EM reveals mechanisms of angiotensin I-converting enzyme allostery and dimerization.The EMBO journal · 2022Article
- Human Angiotensin I-Converting Enzyme Produced by Different Cells: Classification of the SERS Spectra with Linear Discriminant Analysis.Biomedicines · 2022Article
- Quantitation of a Urinary Profile of Biomarkers in Gaucher Disease Type 1 Patients Using Tandem Mass Spectrometry.Diagnostics (Basel, Switzerland) · 2022Article
- Gaucher Disease for HematologistsTurkish journal of haematology : official journal of Turkish Society of Haematology · 2022Review
- Gaucher disease: an update.Medicine and pharmacy reports · 2021Article
- Epitope mapping of novel monoclonal antibodies to human angiotensin I-converting enzyme.Protein science : a publication of the Protein Society · 2021Article
- Interstitial lung disease in lysosomal storage disorders.European respiratory review : an official journal of the European Respiratory Society · 2021Article
- Impact of Gaucher disease on COVID-19.Internal medicine journal · 2020Article
- ACE overexpression in myeloid cells increases oxidative metabolism and cellular ATP.The Journal of biological chemistry · 2020Article
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 3 countries.
Funding
Abstract
backgroundGaucher disease is characterized by the activation of splenic and hepatic macrophages, accompanied by dramatically increased levels of angiotensin-converting enzyme (ACE). To evaluate the source of the elevated blood ACE, we performed complete ACE phenotyping using blood, spleen and liver samples from patients with Gaucher disease and controls.
methodsACE phenotyping included 1) immunohistochemical staining for ACE; 2) measuring ACE activity with two substrates (HHL and ZPHL); 3) calculating the ratio of the rates of substrate hydrolysis (ZPHL/HHL ratio); 4) assessing the conformational fingerprint of ACE by evaluating the pattern of binding of monoclonal antibodies to 16 different ACE epitopes.
resultsWe show that in patients with Gaucher disease, the dramatically increased levels of ACE originate from activated splenic and/or hepatic macrophages (Gaucher cells), and that both its conformational fingerprint and kinetic characteristics (ZPHL/HHL ratio) differ from controls and from patients with sarcoid granulomas. Furthermore, normal spleen was found to produce high levels of endogenous ACE inhibitors and a novel, tightly-bound 10-30 kDa ACE effector which is deficient in Gaucher spleen.
conclusionsThe conformation of ACE is tissue-specific. In Gaucher disease, ACE produced by activated splenic macrophages differs from that in hepatic macrophages, as well as from macrophages and dendritic cells in sarcoid granulomas. The observed differences are likely due to altered ACE glycosylation or sialylation in these diseased organs. The conformational differences in ACE may serve as a specific biomarker for Gaucher disease.
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Registered trials
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