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The Clinical and Molecular Characteristics of Molybdenum Cofactor Deficiency Due to MOCS2 Mutations.
Arican P, Gencpinar P, Kirbiyik O, Bozkaya Yilmaz S, Ersen A, Oztekin O, Olgac Dundar N. Arican P, et al. Pediatr Neurol. 2019 Oct;99:55-59. doi: 10.1016/j.pediatrneurol.2019.04.021. Epub 2019 May 3. Pediatr Neurol. 2019. PMID: 31201073 Review.
BACKGROUND: We explored the clinical and molecular characteristics of molybdenum cofactor deficiency due to MOCS2 muations. METHODS: We summarize the genetic and clinical findings of previously reported patients with a MOCS2 mutation. We also present a new patient w …
BACKGROUND: We explored the clinical and molecular characteristics of molybdenum cofactor deficiency due to MOCS2 muations. METHODS: …
Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients.
Jakubiczka-Smorag J, Santamaria-Araujo JA, Metz I, Kumar A, Hakroush S, Brueck W, Schwarz G, Burfeind P, Reiss J, Smorag L. Jakubiczka-Smorag J, et al. Hum Genet. 2016 Jul;135(7):813-26. doi: 10.1007/s00439-016-1676-4. Epub 2016 May 2. Hum Genet. 2016. PMID: 27138983
Therefore, we generated and characterized a Mocs2-null mouse model of MoCo deficiency type B. Expression analyses of Mocs2 revealed a ubiquitous expression pattern; however, at the cellular level, specific cells show prominent Mocs2 expression, e.g., neuronal …
Therefore, we generated and characterized a Mocs2-null mouse model of MoCo deficiency type B. Expression analyses of Mocs2 rev …
Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients.
Zaki MS, Selim L, El-Bassyouni HT, Issa MY, Mahmoud I, Ismail S, Girgis M, Sadek AA, Gleeson JG, Abdel Hamid MS. Zaki MS, et al. Eur J Paediatr Neurol. 2016 Sep;20(5):714-22. doi: 10.1016/j.ejpn.2016.05.011. Epub 2016 May 30. Eur J Paediatr Neurol. 2016. PMID: 27289259 Free PMC article.
The clinical phenotype is indistinguishable and they can only be differentiated biochemically. MOCS1, MOCS2, MOCS3, and GPRN genes contribute to the synthesis of molybdenum cofactor, and SUOX gene encodes sulfite oxidase. ...RESULTS: Novel SUOX mutations were detected in 3 …
The clinical phenotype is indistinguishable and they can only be differentiated biochemically. MOCS1, MOCS2, MOCS3, and GPRN genes co …
Genome-wide identification of genes essential for podocyte cytoskeletons based on single-cell RNA sequencing.
Lu Y, Ye Y, Bao W, Yang Q, Wang J, Liu Z, Shi S. Lu Y, et al. Kidney Int. 2017 Nov;92(5):1119-1129. doi: 10.1016/j.kint.2017.04.022. Epub 2017 Jul 12. Kidney Int. 2017. PMID: 28709640 Free article.
Thirty-seven novel genes were functionally analyzed by siRNA silencing, and we found that a deficiency of 30 genes led to either cytoskeletal injury (FGFR1, AOX1, AIF1L, HAUS8, RAB3B, LPIN2, GOLIM4, CERS6, ARHGEF18, ARPC1A, SRGAP1, ITGB5, ILDR2, MPP5, TSC22D1, DNAJC11, SEPT10, …
Thirty-seven novel genes were functionally analyzed by siRNA silencing, and we found that a deficiency of 30 genes led to either cytoskeleta …
Genotype-Phenotype Dissociation in Two Taiwanese Children with Molybdenum Cofactor Deficiency Caused by MOCS2 Mutation.
Lee HF, Hsu CC, Chi CS, Tsai CR. Lee HF, et al. Neuropediatrics. 2022 Jun;53(3):200-203. doi: 10.1055/s-0041-1736181. Epub 2021 Oct 21. Neuropediatrics. 2022. PMID: 34674206
BACKGROUND: To describe the genotype-phenotype dissociation in two Taiwanese patients with molybdenum cofactor deficiency (MoCoD) caused by MOCS2 gene mutations. PATIENT DESCRIPTION: Patient 1 exhibited early-onset neurological symptoms soon after birth, followed by subseq …
BACKGROUND: To describe the genotype-phenotype dissociation in two Taiwanese patients with molybdenum cofactor deficiency (MoCoD) caused by …
Live Birth of a Healthy Child in a Couple with Identical mtDNA Carrying a Pathogenic c.471_477delTTTAAAAinsG Variant in the MOCS2 Gene.
Tofilo M, Voronova N, Nigmatullina L, Kuznetsova E, Timonina V, Efimenko B, Turgunkhujaev O, Avdeichik S, Ansar M, Popadin K, Kirillova A, Mazunin I. Tofilo M, et al. Genes (Basel). 2023 Mar 15;14(3):720. doi: 10.3390/genes14030720. Genes (Basel). 2023. PMID: 36980992 Free PMC article.
In this report, we describe the presence of an in-frame homozygous variant (c.471_477delTTTAAAAinsG) in the MOCS2 gene in an affected child, diagnosed with Ohtahara syndrome according to the clinical manifestations. ...To prevent transmitting this mutation to the next gene …
In this report, we describe the presence of an in-frame homozygous variant (c.471_477delTTTAAAAinsG) in the MOCS2 gene in an affected …
Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54, MOCS2, and OPHN1.
Khan A, Muhammad A, Ullah H, Ambreen H, Ullah A, May P, Lerche H, Haack TB, Rehman SU, Kegele J. Khan A, et al. Clin Genet. 2025 Jan;107(1):98-103. doi: 10.1111/cge.14627. Epub 2024 Oct 14. Clin Genet. 2025. PMID: 39400946 Free PMC article.
The second individual had a homozygous class IV missense variant in MOCS2 (c.226G > A, p.(Gly76Arg)) which is associated with Molybdenum cofactor deficiency. ...
The second individual had a homozygous class IV missense variant in MOCS2 (c.226G > A, p.(Gly76Arg)) which is associated with Moly …
Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.
Huijmans JGM, Schot R, de Klerk JBC, Williams M, de Coo RFM, Duran M, Verheijen FW, van Slegtenhorst M, Mancini GMS. Huijmans JGM, et al. Am J Med Genet A. 2017 Jun;173(6):1601-1606. doi: 10.1002/ajmg.a.38240. Am J Med Genet A. 2017. PMID: 28544736
MOCS3 is the third protein, besides MOCS1 and MOCS2, involved in the biosynthesis of the molybdenum cofactor and has a dual ubiquitin-like function in tRNA thiolation. It is plausible that the phenotype results from deficiency of this dual function, not only from defective …
MOCS3 is the third protein, besides MOCS1 and MOCS2, involved in the biosynthesis of the molybdenum cofactor and has a dual ubiquitin …
Novel pathogenic variant in a mild case of type B molybdenum cofactor deficiency: case report and literature review.
Kinsinger M, Ivanisevic J, Mithal DS. Kinsinger M, et al. BMC Med Genomics. 2024 Dec 18;17(1):292. doi: 10.1186/s12920-024-02027-x. BMC Med Genomics. 2024. PMID: 39695700 Free PMC article. Review.
Three types of MoCD have been described based on the effected gene along the MoCo synthesis pathway: type A (MOCS1); type B (MOCS2 or MOCS3) and type C (GPHN). The MOCS2 gene is bicistronic, encoding the small (MOCS2A) and large (MOCS2B) subunits with an overlapping …
Three types of MoCD have been described based on the effected gene along the MoCo synthesis pathway: type A (MOCS1); type B (MOCS2 or …
Rapid exome sequencing for children with severe acute encephalopathy - A case series.
Habib C, Paperna T, Zaid R, Ravid S, Ben Ari J, Tal G, Weiss K, Hershkovitz T. Habib C, et al. Eur J Med Genet. 2024 Apr;68:104918. doi: 10.1016/j.ejmg.2024.104918. Epub 2024 Feb 5. Eur J Med Genet. 2024. PMID: 38325642 Free article.
All were homozygous for pathogenic and likely-pathogenic variants associated with recessive disorders; MOCS2, NDUFS8 and DBR1. Surprisingly, the initial workup was not suggestive of the final diagnosis. ...
All were homozygous for pathogenic and likely-pathogenic variants associated with recessive disorders; MOCS2, NDUFS8 and DBR1. Surpri …
12 results