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Metabolic Alterations in NADSYN1-Deficient Cells.
Meijer NWF, Gerrits J, Zwakenberg S, Zwartkruis FJT, Verhoeven-Duif NM, Jans JJM. Meijer NWF, et al. Metabolites. 2023 Dec 12;13(12):1196. doi: 10.3390/metabo13121196. Metabolites. 2023. PMID: 38132878 Free PMC article.
NADSYN1 deficiency has recently been added to the spectrum of congenital NAD+ deficiency disorders. ...As a consequence, alterations in 122 and 69 metabolites are observed in NADSYN1-deficient A549 and HEK293T cells compared to the wild-type cell line (FC > 2 and …
NADSYN1 deficiency has recently been added to the spectrum of congenital NAD+ deficiency disorders. ...As a consequence, alterations …
Disruptive NADSYN1 Variants Implicated in Congenital Vertebral Malformations.
Lin J, Zhao L, Zhao S, Li S, Zhao Z, Chen Z, Zheng Z, Shao J, Niu Y, Li X, Zhang JT, Wu Z, Wu N. Lin J, et al. Genes (Basel). 2021 Oct 14;12(10):1615. doi: 10.3390/genes12101615. Genes (Basel). 2021. PMID: 34681008 Free PMC article.
Here, we analyzed the genetic variants in NADSYN1 in an exome-sequenced cohort consisting of patients with congenital vertebral malformations (CVMs). ...Our findings demonstrated that functional variants in NADSYN1 were involved in the complex genetic etiology of CV …
Here, we analyzed the genetic variants in NADSYN1 in an exome-sequenced cohort consisting of patients with congenital vertebral malfo …
Clinical heterogeneity of NADSYN1-associated VCRL syndrome.
Aubert-Mucca M, Janel C, Porquet-Bordes V, Patat O, Touraine R, Edouard T, Michot C, Tessier A, Cormier-Daire V, Attie-Bitach T, Baujat G. Aubert-Mucca M, et al. Clin Genet. 2023 Jul;104(1):114-120. doi: 10.1111/cge.14328. Epub 2023 Mar 23. Clin Genet. 2023. PMID: 36951206
The NADSYN1 gene [MIM*608285] encodes the NAD synthetase 1 enzyme involved in the final step of NAD biosynthesis, crucial for cell metabolism and organ embryogenesis. ...This condition was initially characterized as severe with perinatal lethality or developmental delay an …
The NADSYN1 gene [MIM*608285] encodes the NAD synthetase 1 enzyme involved in the final step of NAD biosynthesis, crucial for cell me …
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
Szot JO, Cuny H, Martin EM, Sheng DZ, Iyer K, Portelli S, Nguyen V, Gereis JM, Alankarage D, Chitayat D, Chong K, Wentzensen IM, Vincent-Delormé C, Lermine A, Burkitt-Wright E, Ji W, Jeffries L, Pais LS, Tan TY, Pitt J, Wise CA, Wright H, Andrews ID, Pruniski B, Grebe TA, Corsten-Janssen N, Bouman K, Poulton C, Prakash S, Keren B, Brown NJ, Hunter MF, Heath O, Lakhani SA, McDermott JH, Ascher DB, Chapman G, Bozon K, Dunwoodie SL. Szot JO, et al. J Clin Invest. 2024 Feb 15;134(4):e174824. doi: 10.1172/JCI174824. J Clin Invest. 2024. PMID: 38357931 Free PMC article.
Here, we identified 13 further individuals with biallelic NADSYN1 variants predicted to be damaging, and phenotypes ranging from multiple severe malformations to the complete absence of malformation. ...While for Nadsyn1+/- mothers, any B3 vitamer was suitable to ra …
Here, we identified 13 further individuals with biallelic NADSYN1 variants predicted to be damaging, and phenotypes ranging from mult …
Integrating RNA-seq and scRNA-seq to explore the biological significance of NAD + metabolism-related genes in the initial diagnosis and relapse of childhood B-cell acute lymphoblastic leukemia.
Lin C, Xu JQ, Zhong GC, Chen H, Xue HM, Yang M, Chen C. Lin C, et al. Front Immunol. 2022 Nov 11;13:1043111. doi: 10.3389/fimmu.2022.1043111. eCollection 2022. Front Immunol. 2022. PMID: 36439178 Free PMC article.
RESULTS: 23 DE-NMRGs were screened out, which were mainly enriched in nucleoside phosphate metabolic process, nucleotide metabolic process, and Nicotinate and nicotinamide metabolism. Moreover, 3 biomarkers (NADSYN1, SIRT3, and PARP6) were identified from the machine learn …
RESULTS: 23 DE-NMRGs were screened out, which were mainly enriched in nucleoside phosphate metabolic process, nucleotide metabolic process, …
Adult patient diagnosed with NADSYN1 associated congenital NAD deficiency and analysis of NAD levels to be published in: European Journal of Medical Genetics.
Erbs E, Brasen CL, Lund AM, Rasmussen M. Erbs E, et al. Eur J Med Genet. 2023 Mar;66(3):104698. doi: 10.1016/j.ejmg.2023.104698. Epub 2023 Jan 14. Eur J Med Genet. 2023. PMID: 36649848
Szot et al. and Kortbawi et al. have reported a total of seven patients with NADSYN1 associated congenital NAD deficiency disorder with the oldest patient being seven years old. ...RESULTS: Trio exome sequencing revealed a homozygous missense variant in NADSYN1 c.17 …
Szot et al. and Kortbawi et al. have reported a total of seven patients with NADSYN1 associated congenital NAD deficiency disorder wi …
The genetics of vitamin D.
Jiang X, Kiel DP, Kraft P. Jiang X, et al. Bone. 2019 Sep;126:59-77. doi: 10.1016/j.bone.2018.10.006. Epub 2018 Oct 12. Bone. 2019. PMID: 30316967 Review.
Several large-scale genome-wide association studies (GWAS) have discovered associations of GC, NADSYN1/DHCR7, CYP2R1, CYP24A1, SEC23A, AMDHD1 with serum levels of vitamin D. A recent whole genome sequencing (WGS) study, combined with deep imputation of genome-wide genotypi …
Several large-scale genome-wide association studies (GWAS) have discovered associations of GC, NADSYN1/DHCR7, CYP2R1, CYP24A1, SEC23A …
Congenital NAD Deficiency Disorder.
Mark P, Dunwoodie S. Mark P, et al. 2023 Jul 27. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2023 Jul 27. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 37499065 Free Books & Documents. Review.
DIAGNOSIS/TESTING: The diagnosis of CNDD is established in a proband with suggestive findings and biallelic pathogenic variants in HAAO, KYNU, or NADSYN1 identified by molecular genetic testing. MANAGEMENT: Treatment of manifestations: There is no cure for CNDD. ...
DIAGNOSIS/TESTING: The diagnosis of CNDD is established in a proband with suggestive findings and biallelic pathogenic variants in HAAO, KYN …
Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.
Szot JO, Campagnolo C, Cao Y, Iyer KR, Cuny H, Drysdale T, Flores-Daboub JA, Bi W, Westerfield L, Liu P, Leung TN, Choy KW, Chapman G, Xiao R, Siu VM, Dunwoodie SL. Szot JO, et al. Am J Hum Genet. 2020 Jan 2;106(1):129-136. doi: 10.1016/j.ajhg.2019.12.006. Epub 2019 Dec 26. Am J Hum Genet. 2020. PMID: 31883644 Free PMC article.
Here we present five individuals from four unrelated families, individuals who share similar phenotypes with disease-causal bi-allelic variants in NADSYN1, encoding NAD synthetase 1, the final enzyme of the nicotinamide adenine dinucleotide (NAD) de novo synthesis pathway. …
Here we present five individuals from four unrelated families, individuals who share similar phenotypes with disease-causal bi-allelic varia …
91 results