ArticleMolecular therapy : the journal of the American Society of Gene Therapy2018
Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria.
Article in Molecular therapy : the journal of the American Society of Gene Therapy, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 37 citations in OpenAlex.
- Homocystinuria: Advances in metabolic and molecular therapies targeting homocysteine pathways (Review).Molecular medicine reports · 2026Review
- Dietary Shift Leads to Venous Thrombosis-Induced Congestive Liver Failure in CBS-Deficient Mice.Journal of inherited metabolic disease · 2025Article
- Article
- Dissecting hair breakage in alopecia areata: the central role of dysregulated cysteine homeostasis.Amino acids · 2024Review
- Current and Novel Therapeutical Approaches of Classical Homocystinuria in Childhood With Special Focus on Enzyme Replacement Therapy, Liver-Directed Therapy and Gene Therapy.Journal of clinical medicine research · 2023Review
- Recent therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria.British journal of pharmacology · 2023Review
- How to fix a broken protein: restoring function to mutant human cystathionine β-synthase.Human genetics · 2022Review
- Long-term functional correction of cystathionine β-synthase deficiency in mice by adeno-associated viral gene therapy.Journal of inherited metabolic disease · 2021Article
- Congenital cataract: An ocular manifestation of classical homocystinuria.Molecular genetics & genomic medicine · 2021Article
- Analysis of differential neonatal lethality in cystathionine β-synthase deficient mouse models using metabolic profiling.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2021Article
- Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency.BMC ophthalmology · 2021Article
- Zinn's zonule.Progress in retinal and eye research · 2021Review
- Article
- Hypermethioninemia Leads to Fatal Bleeding and Increased Mortality in a Transgenic I278T Mouse Model of Homocystinuria.Biomedicines · 2020Article
- Review
- Behavior, body composition, and vascular phenotype of homocystinuric mice on methionine-restricted diet or enzyme replacement therapy.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2019Article
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
Abstract
Classical homocystinuria (HCU) is the most common inherited disorder of sulfur amino acid metabolism caused by deficiency in cystathionine beta-synthase (CBS) activity and characterized by severe elevation of homocysteine in blood and tissues. Treatment with dietary methionine restriction is not optimal, and poor compliance leads to serious complications. We developed an enzyme replacement therapy (ERT) and studied its efficacy in a severe form of HCU in mouse (the I278T model). Treatment was initiated before or after the onset of clinical symptoms in an effort to prevent or reverse the phenotype. ERT substantially reduced and sustained plasma homocysteine concentration at around 100 μM and normalized plasma cysteine for up to 9 months of treatment. Biochemical balance was also restored in the liver, kidney, and brain. Furthermore, ERT corrected liver glucose and lipid metabolism. The treatment prevented or reversed facial alopecia, fragile and lean phenotype, and low bone mass. In addition, structurally defective ciliary zonules in the eyes of I278T mice contained low density and/or broken fibers, while administration of ERT from birth partially rescued the ocular phenotype. In conclusion, ERT maintained an improved metabolic pattern and ameliorated many of the clinical complications in the I278T mouse model of HCU.
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