ArticleThe Journal of experimental medicine2021
Implication of folate deficiency in CYP2U1 loss of function.
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Article in The Journal of experimental medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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15citing papers in PubMed, 1 pooled it
1.8field-weighted citation impact, top 16% of its field
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- The role of cytochrome P450 genetic variants in pesticide metabolism and the risk of child neurodevelopment: a systematic review.Frontiers in pediatrics · 2025Pooled it
- CYP2U1: a cardiac metabolic switch alleviating obesity cardiomyopathy via lipid metabolic reprogramming.Molecular and cellular biochemistry · 2026Article
- Neurodevelopmental alterations are key drivers of SPG56.Human molecular genetics · 2026Article
- Genotypic and phenotypic spectrum of hereditary spastic paraplegia 56: insights from novel CYP2U1 variants and a literature review.BMC neurology · 2026Review
- CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers.Molecular genetics and metabolism reports · 2024Article
- Pluripotent Stem Cells as a Preclinical Cellular Model for Studying Hereditary Spastic Paraplegias.International journal of molecular sciences · 2024Review
- Decoding hereditary spastic paraplegia pathogenicity through transcriptomic profiling.Zoological research · 2023Review
- iPSC-derived retinal pigmented epithelial cells from patients with macular telangiectasia show decreased mitochondrial function.The Journal of clinical investigation · 2023Article
- Co-occurrence ofClinical parkinsonism & related disorders · 2023Article
- Human Orphan Cytochrome P450 2U1 Catalyzes the ω-Hydroxylation of Leukotriene BInternational journal of molecular sciences · 2022Article
- The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment.International journal of molecular sciences · 2022Review
- Transcriptomic profiling of hepatic tissues for drug metabolism genes in nonalcoholic fatty liver disease: A study of human and animals.Frontiers in endocrinology · 2022Article
- Assessing cytochrome P450 function using genetically engineered mouse models.Advances in pharmacology (San Diego, Calif.) · 2022Review
- Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview.Frontiers in molecular biosciences · 2021Review
- Characterization of the Retinal Phenotype Using Multimodal Imaging in Novel Compound Heterozygote Variants of CYP2U1.Ophthalmology scienceArticle
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Authors and funding
48 authors at 18 institutions in 6 countries.
Claire PujolSorbonne Université, Institut du Cerveau - Paris Brain Institute ICM, Institut national de la santé et de la recherche médicale, Centre national de la recherche scientifique, Assistance Publique - Hôpitaux de Paris, Hôpital de la Pitié Salpêtrière, Départements Médico-Universitaires Neuroscience 6, Paris, France.ORCID 0000-0001-8943-4646
Anne Legrand *Paris University, Paris Cardiovascular Research Centre, Assistance Publique - Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Centre de Référence des Maladies Vasculaires Rares - Institut national de la santé et de la recherche médicale U97, Paris, France.ORCID 0000-0001-5703-3493
Livia Parodi *Sorbonne Université, Institut du Cerveau - Paris Brain Institute ICM, Institut national de la santé et de la recherche médicale, Centre national de la recherche scientifique, Assistance Publique - Hôpitaux de Paris, Hôpital de la Pitié Salpêtrière, Départements Médico-Universitaires Neuroscience 6, Paris, France.ORCID 0000-0003-0605-2381
Priscilla ThomasSorbonne Université, Institut du Cerveau - Paris Brain Institute ICM, Institut national de la santé et de la recherche médicale, Centre national de la recherche scientifique, Assistance Publique - Hôpitaux de Paris, Hôpital de la Pitié Salpêtrière, Départements Médico-Universitaires Neuroscience 6, Paris, France.ORCID 0000-0002-5920-2518
Fanny MochelSorbonne Université, Institut du Cerveau - Paris Brain Institute ICM, Institut national de la santé et de la recherche médicale, Centre national de la recherche scientifique, Assistance Publique - Hôpitaux de Paris, Hôpital de la Pitié Salpêtrière, Départements Médico-Universitaires Neuroscience 6, Paris, France.ORCID 0000-0003-3970-3486
Dario SaracinoSorbonne Université, Institut du Cerveau - Paris Brain Institute ICM, Institut national de la santé et de la recherche médicale, Centre national de la recherche scientifique, Assistance Publique - Hôpitaux de Paris, Hôpital de la Pitié Salpêtrière, Départements Médico-Universitaires Neuroscience 6, Paris, France.ORCID 0000-0002-4299-9743
Giulia CoarelliSorbonne Université, Institut du Cerveau - Paris Brain Institute ICM, Institut national de la santé et de la recherche médicale, Centre national de la recherche scientifique, Assistance Publique - Hôpitaux de Paris, Hôpital de la Pitié Salpêtrière, Départements Médico-Universitaires Neuroscience 6, Paris, France.ORCID 0000-0002-7824-8343
Marijana CroonCologne Excellence Cluster for Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, Cologne, Germany.ORCID 0000-0001-5797-5413
Milica PopovicCologne Excellence Cluster for Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, Cologne, Germany.ORCID 0000-0002-8762-6967
Manon ValetSorbonne University, Institut national de la santé et de la recherche médicale, Centre national de la recherche scientifique, Institut de la Vision, Paris, France.ORCID 0000-0003-2047-2315
Nicolas VillainSorbonne University, Assistance Publique - Hôpitaux de Paris, Hôpital de la Pitié-Salpêtrière, Department of Neurology, Paris, France.ORCID 0000-0002-7429-4289
Shahira ElshafieDepartment of Clinical Pathology, Fayoum University, Fayoum, Egypt.ORCID 0000-0001-5801-0197
Mahmoud IssaDepartment of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.ORCID 0000-0002-3899-2821
Stephane ZuilyUniversity of Lorraine, Institut national de la santé et de la recherche médicale U 1116, Centre Hospitalier Régional Universitaire de Nancy, Nancy, France.ORCID 0000-0002-9326-6881
Mathilde RenaudUniversity of Lorraine, Institut national de la santé et de la recherche médicale U 1256, Centre Hospitalier Régional Universitaire de Nancy, Nancy, France.ORCID 0000-0002-0061-9378
Cécilia Marelli-TosiMécanismes Moléculaires dans les Démences Neurodégénératives, University of Montpellier, École pratique des hautes études, Institut national de la santé et de la recherche médicale, Montpellier, France; Expert Center for Neurogenetic Diseases, Centre Hospitalier Universitaire, Montpellier, France.ORCID 0000-0002-9543-6311
Marine LegendreGenetics Department, Centre Hospitalier Universitaire de Bordeaux, University of Bordeaux, Bordeaux, France.ORCID 0000-0003-1622-2962
Aurélien TrimouilleGenetics Department, Centre Hospitalier Universitaire de Bordeaux, University of Bordeaux, Bordeaux, France.ORCID 0000-0002-3457-5684
Isabelle KemlinPediatric Neurology Department, Assistance Publique - Hôpitaux de Paris, Hôpital Armand Trousseau, Groupe Hôpitaux Universitaires Est Parisien, Paris, France.ORCID 0000-0003-4567-460X
Sophie MathieuPediatric Neurology Department, Assistance Publique - Hôpitaux de Paris, Hôpital Armand Trousseau, Groupe Hôpitaux Universitaires Est Parisien, Paris, France.ORCID 0000-0001-5500-8649
Joseph G GleesonDepartment of Neurosciences, University of California, San Diego, La Jolla, CA.ORCID 0000-0002-0889-9220
Foudil LamariMetabolic Biochemistry Department, Pitié-Salpêtrière hospital, Assistance Publique - Hôpitaux de Paris, Sorbonne University, Paris, France.ORCID 0000-0002-5104-2935
Daniele GalatoloMolecular Medicine, Istituto di Ricovero e Cura a Carattere Scientifico Stella Maris, Pisa, Italy.ORCID 0000-0001-9402-2910
Rana AlkouriMetabolic Biochemistry Department, Pitié-Salpêtrière hospital, Assistance Publique - Hôpitaux de Paris, Sorbonne University, Paris, France.ORCID 0000-0002-7376-4656
Chantal TseMetabolic Biochemistry Department, Pitié-Salpêtrière hospital, Assistance Publique - Hôpitaux de Paris, Sorbonne University, Paris, France.ORCID 0000-0003-1212-4441
Diana RodriguezPediatric Neurology Department, Assistance Publique - Hôpitaux de Paris, Hôpital Armand Trousseau, Groupe Hôpitaux Universitaires Est Parisien, Paris, France.ORCID 0000-0001-6594-1985
Claire EwenczykSorbonne Université, Institut du Cerveau - Paris Brain Institute ICM, Institut national de la santé et de la recherche médicale, Centre national de la recherche scientifique, Assistance Publique - Hôpitaux de Paris, Hôpital de la Pitié Salpêtrière, Départements Médico-Universitaires Neuroscience 6, Paris, France.ORCID 0000-0002-4864-6287
Florence FellmannUniversity of Lausanne, Service de Génétique médicale, Lausanne, Switzerland.ORCID 0000-0003-3156-4768
Thierry KuntzerUniversity of Lausanne, Nerve-Muscle Unit, Department of Clinical Neurosciences, Lausanne, Switzerland.ORCID 0000-0002-7788-1673
Emilie BlondDepartment of Biochemistry and Molecular Biology, Hospices Civils de Lyon, Pierre Bénite, France.ORCID 0000-0002-0908-1017
Khalid H El HachimiSorbonne Université, Institut du Cerveau - Paris Brain Institute ICM, Institut national de la santé et de la recherche médicale, Centre national de la recherche scientifique, Assistance Publique - Hôpitaux de Paris, Hôpital de la Pitié Salpêtrière, Départements Médico-Universitaires Neuroscience 6, Paris, France.ORCID 0000-0002-8282-3443
Frédéric DariosSorbonne Université, Institut du Cerveau - Paris Brain Institute ICM, Institut national de la santé et de la recherche médicale, Centre national de la recherche scientifique, Assistance Publique - Hôpitaux de Paris, Hôpital de la Pitié Salpêtrière, Départements Médico-Universitaires Neuroscience 6, Paris, France.ORCID 0000-0001-9800-5990
Alexandre SeyerProfilomic SA, Boulogne-Billancourt, France.ORCID 0000-0002-7856-3685
Anastasia D GaziPasteur Institute, Centre national de la recherche scientifique UMR 3691, Paris, France.ORCID 0000-0002-2922-3625
Patrick GiavaliscoMax Planck Institute for Biology of Ageing, Cologne, Germany.ORCID 0000-0002-4636-1827
Silvina PerinMax Planck Institute for Biology of Ageing, Cologne, Germany.ORCID 0000-0002-4733-2067
Jean-Luc BoucherParis Descartes University, Laboratoire de Chimie et Biochimie Pharmacologiques et Toxicologiques, Centre national de la recherche scientifique UMR 8601, Paris, France.ORCID 0000-0002-2058-6489
Laurent Le CorreParis Descartes University, Laboratoire de Chimie et Biochimie Pharmacologiques et Toxicologiques, Centre national de la recherche scientifique UMR 8601, Paris, France.ORCID 0000-0002-0136-8072
Filippo M SantorelliMolecular Medicine, Istituto di Ricovero e Cura a Carattere Scientifico Stella Maris, Pisa, Italy.ORCID 0000-0002-1359-9062
Cyril GoizetGenetics Department, Centre Hospitalier Universitaire de Bordeaux, University of Bordeaux, Bordeaux, France.ORCID 0000-0002-1913-889X
Maha S ZakiDepartment of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.ORCID 0000-0001-7840-0002
Serge PicaudSorbonne University, Institut national de la santé et de la recherche médicale, Centre national de la recherche scientifique, Institut de la Vision, Paris, France.ORCID 0000-0002-0548-5145
Arnaud MourierBordeaux University, Centre national de la recherche scientifique, Institut de Biochimie et Génétique Cellulaires, UMR 5095, Bordeaux, France.ORCID 0000-0002-5413-611X
Sophie Marie SteculorumGroup Neurocircuit and Function, Max Planck Institute for Metabolism Research, Cologne, Germany.ORCID 0000-0002-5665-2732
Cyril MignotGenetics and Cytogenetics Department, Centre de Référence Déficiences Intellectuelles de Causes Rares, Assistance Publique - Hôpitaux de Paris, Paris, France.ORCID 0000-0002-3462-3463
Alexandra DurrSorbonne Université, Institut du Cerveau - Paris Brain Institute ICM, Institut national de la santé et de la recherche médicale, Centre national de la recherche scientifique, Assistance Publique - Hôpitaux de Paris, Hôpital de la Pitié Salpêtrière, Départements Médico-Universitaires Neuroscience 6, Paris, France.ORCID 0000-0002-8921-7104
Aleksandra TrifunovicCologne Excellence Cluster for Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, Cologne, Germany.ORCID 0000-0002-5472-3517
Giovanni StevaninSorbonne Université, Institut du Cerveau - Paris Brain Institute ICM, Institut national de la santé et de la recherche médicale, Centre national de la recherche scientifique, Assistance Publique - Hôpitaux de Paris, Hôpital de la Pitié Salpêtrière, Départements Médico-Universitaires Neuroscience 6, Paris, France.ORCID 0000-0001-9368-8657
Sorbonne Université · FRÉcole Pratique des Hautes Études · FRInstitut Pasteur · FRUniversité de Bordeaux · FRUniversity of Cologne · DEAssistance Publique – Hôpitaux de Paris · FRCentre Hospitalier Régional et Universitaire de Nancy · FRFondazione Stella Maris · ITInstitut de la Vision · FRMax Planck Institute for Biology of Ageing · DENational Research Centre · EGUniversité Paris Cité · FRUniversity of Lausanne · CHFayoum University · EGHospices Civils de Lyon · FRInstitut de Biochimie et Génétique Cellulaires · FRMax Planck Institute for Metabolism Research · DEUniversity of California San Diego · US
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary spastic paraplegias are heterogeneous neurodegenerative disorders. Understanding of their pathogenic mechanisms remains sparse, and therapeutic options are lacking. We characterized a mouse model lacking the Cyp2u1 gene, loss of which is known to be involved in a complex form of these diseases in humans. We showed that this model partially recapitulated the clinical and biochemical phenotypes of patients. Using electron microscopy, lipidomic, and proteomic studies, we identified vitamin B2 as a substrate of the CYP2U1 enzyme, as well as coenzyme Q, neopterin, and IFN-α levels as putative biomarkers in mice and fluids obtained from the largest series of CYP2U1-mutated patients reported so far. We also confirmed brain calcifications as a potential biomarker in patients. Our results suggest that CYP2U1 deficiency disrupts mitochondrial function and impacts proper neurodevelopment, which could be prevented by folate supplementation in our mouse model, followed by a neurodegenerative process altering multiple neuronal and extraneuronal tissues.
Indexed as
AnimalsBiomarkersBrainCytochrome P450 Family 2Disease Models, AnimalFolic AcidFolic Acid DeficiencyHumansMiceMice, Inbred C57BLMice, KnockoutMitochondriaMutationPhenotypeProteomicsBiomarkersCYP2U1 protein, humanCytochrome P450 Family 2Folic Acid
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