Research & Literature

Betaine supplementation is less effective than methionine restriction in correcting phenotypes of CBS deficient mice.

Gupta S, Wang L, Kruger WD

Journal of inherited metabolic disease 2016; (39(1)):39-46 doi:10.1007/s10545-015-9883-z.

The effect of dietary modulation of sulfur amino acids on cystathionine β synthase-deficient mice.

Kruger WD, Gupta S

Annals of the New York Academy of Sciences 2016; (1363()):80-90 doi:10.1111/nyas.12967.

Successive MRI Findings of Reversible Cerebral White Matter Lesions in a Patient with Cystathionine β-Synthase Deficiency.

Sasai H, Shimozawa N, Asano T, et al.

The Tohoku journal of experimental medicine 2015; (237(4)):323-7 doi:10.1620/tjem.237.323.

Enzyme replacement with PEGylated cystathionine β-synthase ameliorates homocystinuria in murine model.

Bublil EM, Majtan T, Park I, et al.

The Journal of clinical investigation 2016; (126(6)):2372-84.

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.

Morris AA, Kožich V, Santra S, et al.

Journal of inherited metabolic disease 2017; (40(1)):49-74 doi:10.1007/s10545-016-9979-0.

Catecholamines profiles at diagnosis: Increased diagnostic sensitivity and correlation with biological and clinical features in neuroblastoma patients.

Verly IR, van Kuilenburg AB, Abeling NG, et al.

European journal of cancer (Oxford, England : 1990) 2017; (72()):235-243 doi:10.1016/j.ejca.2016.12.002.

Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy.

Stabler SP, Freehauf C, Allen RH, et al.

JIMD reports 2017; (37()):55-61 doi:10.1007/8904_2017_15.

Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria.

Majtan T, Pey AL, Gimenez-Mascarell P, et al.

Handbook of experimental pharmacology 2018; (245()):345-383 doi:10.1007/164_2017_72.

Regressive pyridoxine-induced sensory neuronopathy in a patient with homocystinuria.

Echaniz-Laguna A, Mourot-Cottet R, Noel E, Chanson JB

BMJ case reports 2018; (2018()) doi:10.1136/bcr-2018-225059.

Cystathionine as a marker for 1p/19q codeleted gliomas by in vivo magnetic resonance spectroscopy.

Branzoli F, Pontoizeau C, Tchara L, et al.

Neuro-oncology 2019; (21(6)):765-774 doi:10.1093/neuonc/noz031.

Elevated plasma cystathionine is associated with increased risk of mortality among patients with suspected or established coronary heart disease.

Dhar I, Lysne V, Svingen GFT, et al.

The American journal of clinical nutrition 2019; (109(6)):1546-1554 doi:10.1093/ajcn/nqy391.

Abnormal Amino Acid Profiles of Blood and Cerebrospinal Fluid from Cystathionine β-Synthase-Deficient Mice, an Animal Model of Homocystinuria.

Akahoshi N, Yokoyama A, Nagata T, et al.

Biological & pharmaceutical bulletin 2019; (42(6)):1054-1057 doi:10.1248/bpb.b19-00127.

Preeclampsia-Like Features and Partial Lactation Failure in Mice Lacking Cystathionine γ-Lyase-An Animal Model of Cystathioninuria.

Akahoshi N, Handa H, Takemoto R, et al.

International journal of molecular sciences 2019; (20(14)) doi:10.3390/ijms20143507.

Hydrogen sulfide modulates epithelial-mesenchymal transition and angiogenesis in non-small cell lung cancer via HIF-1α activation.

Wang M, Yan J, Cao X, et al.

Biochemical pharmacology 2020; (172()):113775 doi:10.1016/j.bcp.2019.113775.

Cystathionine β-synthase is involved in cysteine biosynthesis and H2S generation in Toxoplasma gondii.

Conter C, Fruncillo S, Fernández-Rodríguez C, et al.

Scientific reports 2020; (10(1)):14657 doi:10.1038/s41598-020-71469-x.

Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening.

Yamada K, Yokoyama K, Aoki K, et al.

International journal of neonatal screening 2020; (6(3)) doi:10.3390/ijns6030060.

Proteomic exploration of cystathionine β-synthase deficiency: implications for the clinic.

Jakubowski H

Expert review of proteomics 2020; (17(10)):751-765 doi:10.1080/14789450.2020.1865160.

Homocysteine - from disease biomarker to disease prevention.

Smith AD, Refsum H

Journal of internal medicine 2021; (290(4)):826-854 doi:10.1111/joim.13279.

The Role of the Transsulfuration Pathway in Non-Alcoholic Fatty Liver Disease.

Werge MP, McCann A, Galsgaard ED, et al.

Journal of clinical medicine 2021; (10(5)) doi:10.3390/jcm10051081.

Endogenous hydrogen sulfide regulates xCT stability through persulfidation of OTUB1 at cysteine 91 in colon cancer cells.

Chen S, Bu D, Zhu J, et al.

Neoplasia (New York, N.Y.) 2021; (23(5)):461-472 doi:10.1016/j.neo.2021.03.009.

Role of H2S in Regulation of Vascular Tone in Metabolic Disorders.

Birulina YG, Ivanov VV, Buyko EE, et al.

Bulletin of experimental biology and medicine 2021; (171(4)):431-434 doi:10.1007/s10517-021-05243-y.

High protein diet-induced metabolic changes are transcriptionally regulated via KLF15-dependent and independent pathways.

Mehrazad Saber Z, Takeuchi Y, Sawada Y, et al.

Biochemical and biophysical research communications 2021; (582()):35-42 doi:10.1016/j.bbrc.2021.10.027.

Sulfurtransferases and Cystathionine Beta-Synthase Expression in Different Human Leukemia Cell Lines.

Jurkowska H, Wróbel M, Jasek-Gajda E, Rydz L

Biomolecules 2022; (12(2)) doi:10.3390/biom12020148.

Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis.

Kožich V, Schwahn BC, Sokolová J, et al.

Redox biology 2022; (58()):102517 doi:10.1016/j.redox.2022.102517.

Reconstruction of reverse transsulfuration pathway enables cysteine biosynthesis and enhances resilience to oxidative stress in Chinese Hamster Ovary cells.

Chen Y, Betenbaugh MJ

Metabolic engineering 2023; (76()):204-214 doi:10.1016/j.ymben.2023.02.010.

Multi-omic screening of invasive GBM cells in engineered biomaterials and patient biopsies reveals targetable transsulfuration pathway alterations.

Garcia JH, Akins EA, Jain S, et al.

bioRxiv : the preprint server for biology 2023; doi:10.1101/2023.02.23.529575.

Optimising urinary catecholamine metabolite diagnostics for neuroblastoma.

Matser YAH, Verly IRN, van der Ham M, et al.

Pediatric blood & cancer 2023; (70(6)):e30289 doi:10.1002/pbc.30289.

On pathways and blind alleys-The importance of biomarkers in vitamin B6 -dependent epilepsies.

Plecko B

Journal of inherited metabolic disease 2023; (46(5)):839-847 doi:10.1002/jimd.12655.

Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria.

Schnabel E, Kölker S, Gleich F, et al.

Nutrients 2023; (15(15)) doi:10.3390/nu15153355.

Vitamin B6: a scoping review for Nordic Nutrition Recommendations 2023.

Bjørke-Monsen AL, Ueland PM

Food & nutrition research 2023; (67()) doi:10.29219/fnr.v67.10259.

Real-time detection of enzymatically formed hydrogen sulfide by pathogenic variants of cystathionine beta-synthase using hemoglobin I of Lucina pectinata as a biosensor.

Myszkowska J, Klotz K, Leandro P, et al.

Free radical biology & medicine 2024; (223()):281-295 doi:10.1016/j.freeradbiomed.2024.07.031.

High clinical burden of classical homocystinuria in the United States: a retrospective analysis.

Jain M, Shah M, Thakker KM, et al.

Orphanet journal of rare diseases 2025; (20(1)):37 doi:10.1186/s13023-025-03530-9.

Cystathionine β-Synthase Deficiency in the E-HOD Registry-Part II: Dietary and Pharmacological Treatment.

Morris AAM, Sokolová J, Pavlíková M, et al.

Journal of inherited metabolic disease 2025; (48(1)):e12844 doi:10.1002/jimd.12844.