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  1. Article ; Online: Inherited metabolic disorders beyond the new generation sequencing era: the need for in-depth cellular and molecular phenotyping.

    Guéant, Jean-Louis / Feillet, François

    Human genetics

    2022  Volume 141, Issue 7, Page(s) 1235–1237

    MeSH term(s) High-Throughput Nucleotide Sequencing ; Humans ; Metabolic Diseases/genetics ; Phenotype
    Language English
    Publishing date 2022-06-26
    Publishing country Germany
    Document type Editorial ; Comment
    ZDB-ID 223009-4
    ISSN 1432-1203 ; 0340-6717
    ISSN (online) 1432-1203
    ISSN 0340-6717
    DOI 10.1007/s00439-022-02467-4
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  2. Article ; Online: A systematic review and meta-analysis of proteomic and metabolomic alterations in anaphylaxis reactions.

    Gallizzi, Adrienne Astrid / Heinken, Almut / Guéant-Rodriguez, Rosa-Maria / Guéant, Jean-Louis / Safar, Ramia

    Frontiers in immunology

    2024  Volume 15, Page(s) 1328212

    Abstract: Background: Anaphylaxis manifests as a severe immediate-type hypersensitivity reaction initiated through the immunological activation of target B-cells by allergens, leading to the release of mediators. However, the well-known underlying pathological ... ...

    Abstract Background: Anaphylaxis manifests as a severe immediate-type hypersensitivity reaction initiated through the immunological activation of target B-cells by allergens, leading to the release of mediators. However, the well-known underlying pathological mechanisms do not fully explain the whole variety of clinical and immunological presentations. We performed a systemic review of proteomic and metabolomic studies and analyzed the extracted data to improve our understanding and identify potential new biomarkers of anaphylaxis.
    Methods: Proteomic and metabolomic studies in both human subjects and experimental models were extracted and selected through a systematic search conducted on databases such as PubMed, Scopus, and Web of Science, up to May 2023.
    Results: Of 137 retrieved publications, we considered 12 for further analysis, including seven on proteome analysis and five on metabolome analysis. A meta-analysis of the four human studies identified 118 proteins with varying expression levels in at least two studies. Beside established pathways of mast cells and basophil activation, functional analysis of proteomic data revealed a significant enrichment of biological processes related to neutrophil activation and platelet degranulation and metabolic pathways of arachidonic acid and icosatetraenoic acid. The pathway analysis highlighted also the involvement of neutrophil degranulation, and platelet activation. Metabolome analysis across different models showed 13 common metabolites, including arachidonic acid, tryptophan and lysoPC(18:0) lysophosphatidylcholines.
    Conclusion: Our review highlights the underestimated role of neutrophils and platelets in the pathological mechanisms of anaphylactic reactions. These findings, derived from a limited number of publications, necessitate confirmation through human studies with larger sample sizes and could contribute to the development of new biomarkers for anaphylaxis.
    Systematic review registration: https://www.crd.york.ac.uk/PROSPERO/, identifier CRD42024506246.
    MeSH term(s) Humans ; Anaphylaxis ; Arachidonic Acid ; Proteomics ; Allergens ; Biomarkers
    Chemical Substances Arachidonic Acid (27YG812J1I) ; Allergens ; Biomarkers
    Language English
    Publishing date 2024-02-07
    Publishing country Switzerland
    Document type Meta-Analysis ; Systematic Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 2606827-8
    ISSN 1664-3224 ; 1664-3224
    ISSN (online) 1664-3224
    ISSN 1664-3224
    DOI 10.3389/fimmu.2024.1328212
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  3. Article ; Online: Towards personalized genome-scale modeling of inborn errors of metabolism for systems medicine applications.

    Heinken, Almut / El Kouche, Sandra / Guéant-Rodriguez, Rosa-Maria / Guéant, Jean-Louis

    Metabolism: clinical and experimental

    2023  Volume 150, Page(s) 155738

    Abstract: Inborn errors of metabolism (IEMs) are a group of more than 1000 inherited diseases that are individually rare but have a cumulative global prevalence of 50 per 100,000 births. Recently, it has been recognized that like common diseases, patients with ... ...

    Abstract Inborn errors of metabolism (IEMs) are a group of more than 1000 inherited diseases that are individually rare but have a cumulative global prevalence of 50 per 100,000 births. Recently, it has been recognized that like common diseases, patients with rare diseases can greatly vary in the manifestation and severity of symptoms. Here, we review omics-driven approaches that enable an integrated, holistic view of metabolic phenotypes in IEM patients. We focus on applications of Constraint-based Reconstruction and Analysis (COBRA), a widely used mechanistic systems biology approach, to model the effects of inherited diseases. Moreover, we review evidence that the gut microbiome is also altered in rare diseases. Finally, we outline an approach using personalized metabolic models of IEM patients for the prediction of biomarkers and tailored therapeutic or dietary interventions. Such applications could pave the way towards personalized medicine not just for common, but also for rare diseases.
    MeSH term(s) Humans ; Metabolism, Inborn Errors/genetics ; Rare Diseases/genetics ; Precision Medicine ; Phenotype ; Systems Analysis
    Language English
    Publishing date 2023-11-18
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 80230-x
    ISSN 1532-8600 ; 0026-0495
    ISSN (online) 1532-8600
    ISSN 0026-0495
    DOI 10.1016/j.metabol.2023.155738
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  4. Article: Vitamin B12 absorption and malabsorption.

    Guéant, Jean-Louis / Guéant-Rodriguez, Rosa-Maria / Alpers, David H

    Vitamins and hormones

    2022  Volume 119, Page(s) 241–274

    Abstract: Vitamin B12 is assimilated and transported by complex mechanisms that involve three transport proteins, intrinsic factor (IF), haptocorrin (HC) and transcobalamin (TC) and their respective membrane receptors. Vitamin deficiency is mainly due to ... ...

    Abstract Vitamin B12 is assimilated and transported by complex mechanisms that involve three transport proteins, intrinsic factor (IF), haptocorrin (HC) and transcobalamin (TC) and their respective membrane receptors. Vitamin deficiency is mainly due to inadequate dietary intake in vegans, and B12 malabsorption is related to digestive diseases. This review explores the physiology of vitamin B12 absorption and the mechanisms and diseases that produce malabsorption. In the stomach, B12 is released from food carrier proteins and binds to HC. The degradation of HC by pancreatic proteases and the pH change trigger the transfer of B12 to IF in the duodenum. Cubilin and amnionless are the two components of the receptor that mediates the uptake of B12 in the distal ileum. Part of liver B12 is excreted in bile, and undergoes an enterohepatic circulation. The main causes of B12 malabsorption include inherited disorders (Intrinsic factor deficiency, Imerslund-Gräsbeck disease, Addison's pernicious anemia, obesity, bariatric surgery and gastrectomies. Other causes include pancreatic insufficiency, obstructive Jaundice, tropical sprue and celiac disease, bacterial overgrowth, parasitic infestations, Zollinger-Ellison syndrome, inflammatory bowel diseases, chronic radiation enteritis of the distal ileum and short bowel. The assessment of B12 deficit is recommended in the follow-up of subjects with bariatric surgery. The genetic causes of B12 malabsorption are probably underestimated in adult cases with B12 deficit. Despite its high prevalence in the general population and in the elderly, B12 malabsorption cannot be anymore assessed by the Schilling test, pointing out the urgent need for an equivalent reliable test.
    MeSH term(s) Adult ; Aged ; Anemia, Megaloblastic/complications ; Anemia, Megaloblastic/genetics ; Humans ; Intrinsic Factor ; Malabsorption Syndromes/complications ; Malabsorption Syndromes/genetics ; Malabsorption Syndromes/metabolism ; Male ; Vitamin B 12/metabolism ; Vitamin B 12 Deficiency/etiology ; Vitamin B 12 Deficiency/metabolism
    Chemical Substances Intrinsic Factor (9008-12-2) ; Vitamin B 12 (P6YC3EG204)
    Language English
    Publishing date 2022-03-01
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 201161-x
    ISSN 2162-2620 ; 0083-6729
    ISSN (online) 2162-2620
    ISSN 0083-6729
    DOI 10.1016/bs.vh.2022.01.016
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  5. Article: Behavioral profile of vitamin B

    Pourié, Grégory / Guéant, Jean-Louis / Quadros, Edward V

    Vitamins and hormones

    2022  Volume 119, Page(s) 377–404

    Abstract: Our understanding of brain biology and function is one of the least characterized and therefore, there are no effective treatments for most of neurological disorders. The influence of vitamins, and particularly vitamin ... ...

    Abstract Our understanding of brain biology and function is one of the least characterized and therefore, there are no effective treatments for most of neurological disorders. The influence of vitamins, and particularly vitamin B
    MeSH term(s) Animals ; Brain/metabolism ; Humans ; Neurodegenerative Diseases ; Neuronal Plasticity ; Vitamin B 12/metabolism ; Vitamins
    Chemical Substances Vitamins ; Vitamin B 12 (P6YC3EG204)
    Language English
    Publishing date 2022-03-15
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 201161-x
    ISSN 2162-2620 ; 0083-6729
    ISSN (online) 2162-2620
    ISSN 0083-6729
    DOI 10.1016/bs.vh.2022.02.002
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  6. Article ; Online: B vitamins and one carbon metabolism micronutrients in health and disease.

    Murphy, Michelle M / Guéant, Jean-Louis

    Biochimie

    2020  Volume 173, Page(s) 1–2

    MeSH term(s) Carbon/metabolism ; Humans ; Periodicals as Topic ; Vitamin B Complex/metabolism
    Chemical Substances Vitamin B Complex (12001-76-2) ; Carbon (7440-44-0)
    Language English
    Publishing date 2020-04-22
    Publishing country France
    Document type Editorial
    ZDB-ID 120345-9
    ISSN 1638-6183 ; 0300-9084
    ISSN (online) 1638-6183
    ISSN 0300-9084
    DOI 10.1016/j.biochi.2020.04.018
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  7. Article ; Online: One carbon metabolism, a complex metabolic network involved in pathomechanisms of inherited disorders, birth defects and age-related pathologies.

    Guéant, Jean-Louis

    Biochimie

    2016  Volume 126, Page(s) 1–2

    MeSH term(s) Aging/genetics ; Aging/metabolism ; Aging/pathology ; Animals ; Carbon/metabolism ; Congenital Abnormalities/genetics ; Congenital Abnormalities/metabolism ; Congenital Abnormalities/pathology ; Genetic Diseases, Inborn/genetics ; Genetic Diseases, Inborn/metabolism ; Genetic Diseases, Inborn/pathology ; Humans
    Chemical Substances Carbon (7440-44-0)
    Language English
    Publishing date 2016-07
    Publishing country France
    Document type Editorial
    ZDB-ID 120345-9
    ISSN 1638-6183 ; 0300-9084
    ISSN (online) 1638-6183
    ISSN 0300-9084
    DOI 10.1016/j.biochi.2016.05.008
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  8. Article ; Online: Hyperhomocysteinemia in Cardiovascular Diseases: Revisiting Observational Studies and Clinical Trials.

    Guéant, Jean-Louis / Guéant-Rodriguez, Rosa-Maria / Oussalah, Abderrahim / Zuily, Stéphane / Rosenberg, Irwin

    Thrombosis and haemostasis

    2022  Volume 123, Issue 3, Page(s) 270–282

    Abstract: Thromboembolic manifestations are relatively frequent in patients with intermediate/severe hyperhomocysteinemia (>30 µmol/L) related to inherited disorders and deficiencies in vitamin B12 and folate. In contrast, moderate hyperhomocysteinemia (15-30 µmol/ ...

    Abstract Thromboembolic manifestations are relatively frequent in patients with intermediate/severe hyperhomocysteinemia (>30 µmol/L) related to inherited disorders and deficiencies in vitamin B12 and folate. In contrast, moderate hyperhomocysteinemia (15-30 µmol/L) is a modest predictor of cardiovascular risk. The recognition of homocysteine as a cardiovascular risk factor has been challenged by some but not all randomized clinical trials. We reviewed the main data of this controversy and formulated conclusions to be translated in clinical practice.Homocysteine-lowering trials have been performed in cardiovascular subjects with moderate but not intermediate/severe hyperhomocysteinemia despite the dose-effect risk association. The first meta-analyses found no benefit and led cardiology societies not recommending homocysteine in the assessment of cardiovascular risk. This guideline challenged the need to diagnose and treat the nutritional and genetic causes of intermediate/major hyperhomocysteinemia and was not revised when larger meta-analyses concluded to a reduced risk of stroke. In a recent observational study, 84% of consecutive cardiovascular patients assessed for homocysteine had intermediate or major hyperhomocysteinemia, which was properly assessed in only half of the cases and related to B12 and/or folate deficiency and Addison/Biermer disease in 55% of these cases.In conclusion, revisiting observational studies and clinical trials suggests that cardiovascular patients should be screened for hyperhomocysteinemia, when no other risk factor is found. Patients with intermediate/major hyperhomocysteinemia should be properly assessed and treated for B vitamin deficiencies and inherited disorders according to current guidelines. Further trials are needed to assess the effect of lowering homocysteine according to hyperhomocysteinemia categories at baseline.
    MeSH term(s) Humans ; Cardiovascular Diseases/drug therapy ; Hyperhomocysteinemia/diagnosis ; Hyperhomocysteinemia/drug therapy ; Hyperhomocysteinemia/etiology ; Folic Acid/therapeutic use ; Vitamin B 12/therapeutic use ; Risk Factors ; Homocysteine
    Chemical Substances Folic Acid (935E97BOY8) ; Vitamin B 12 (P6YC3EG204) ; Homocysteine (0LVT1QZ0BA)
    Language English
    Publishing date 2022-09-28
    Publishing country Germany
    Document type Review ; Journal Article
    ZDB-ID 518294-3
    ISSN 2567-689X ; 0340-6245
    ISSN (online) 2567-689X
    ISSN 0340-6245
    DOI 10.1055/a-1952-1946
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  9. Article ; Online: Correction: A transgenic mice model of retinopathy of cblG‑type inherited disorder of one‑carbon metabolism highlights epigenome‑wide alterations related to cone photoreceptor cells development and retinal metabolism.

    Matmat, Karim / Conart, Jean-Baptiste / Graindorge, Paul-Henri / El Kouche, Sandra / Hassan, Ziad / Siblini, Youssef / Umoret, Rémy / Safar, Ramia / Baspinar, Okan / Robert, Aurélie / Alberto, Jean-Marc / Oussalah, Abderrahim / Hergalant, Sébastien / Coelho, David / Guéant, Jean-Louis / Guéant-Rodriguez, Rosa-Maria

    Clinical epigenetics

    2024  Volume 16, Issue 1, Page(s) 23

    Language English
    Publishing date 2024-02-08
    Publishing country Germany
    Document type Published Erratum
    ZDB-ID 2553921-8
    ISSN 1868-7083 ; 1868-7075
    ISSN (online) 1868-7083
    ISSN 1868-7075
    DOI 10.1186/s13148-024-01636-8
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  10. Article ; Online: Causes and consequences of impaired methionine synthase activity in acquired and inherited disorders of vitamin B

    Guéant, Jean-Louis / Guéant-Rodriguez, Rosa-Maria / Kosgei, Viola J / Coelho, David

    Critical reviews in biochemistry and molecular biology

    2021  Volume 57, Issue 2, Page(s) 133–155

    Abstract: Methyl-Cobalamin (Cbl) derives from dietary vitamin ... ...

    Abstract Methyl-Cobalamin (Cbl) derives from dietary vitamin B
    MeSH term(s) 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase/genetics ; 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase/metabolism ; Animals ; Folic Acid ; Mammals/metabolism ; Methionine ; Sirtuin 1/genetics ; Sirtuin 1/metabolism ; Vitamin B 12/genetics ; Vitamin B 12/metabolism ; Vitamins
    Chemical Substances Vitamins ; Folic Acid (935E97BOY8) ; Methionine (AE28F7PNPL) ; 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase (EC 2.1.1.13) ; Sirtuin 1 (EC 3.5.1.-) ; Vitamin B 12 (P6YC3EG204)
    Language English
    Publishing date 2021-10-05
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1000977-2
    ISSN 1549-7798 ; 1381-3455 ; 1040-9238
    ISSN (online) 1549-7798
    ISSN 1381-3455 ; 1040-9238
    DOI 10.1080/10409238.2021.1979459
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