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SRD5A3-CDG: A Patient with a Novel Variant and Brain Neoplasm.
Kasapkara CS, Olgac A, Derinkuyu BE, Oztoprak U, Jaeken J. Kasapkara CS, et al. J Coll Physicians Surg Pak. 2022 Dec;32(12):SS221-SS226. doi: 10.29271/jcpsp.2022.Supp0.SS221. J Coll Physicians Surg Pak. 2022. PMID: 36597345 Review.
Congenital disorders of glycosylation (CDGs) are a large group of genetic diseases with impaired glycosylation of glycoproteins and glycolipids, and glycosylphosphatidylinositol anchor synthesis. Steroid 5alpha-reductase 3 (SRD5A3)-CDG is a CDG type I with a …
Congenital disorders of glycosylation (CDGs) are a large group of genetic diseases with impaired glycosylation of glycoproteins and glycolip …
SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition.
Ben Ayed I, Ouarda W, Frikha F, Kammoun F, Souissi A, Ben Said M, Bouzid A, Elloumi I, Hamdani TM, Gharbi N, Baklouti N, Guirat M, Mejdoub F, Kharrat N, Boujelbene I, Abdelhedi F, Belguith N, Keskes L, Gibriel AA, Kamoun H, Triki C, Alimi AM, Masmoudi S. Ben Ayed I, et al. Am J Med Genet A. 2021 Apr;185(4):1081-1090. doi: 10.1002/ajmg.a.62065. Epub 2021 Jan 6. Am J Med Genet A. 2021. PMID: 33403770
Pathogenic variants in Steroid 5 alpha reductase type 3 (SRD5A3) cause rare inherited congenital disorder of glycosylation known as SRD5A3-CDG (MIM# 612379). ...Based on facial digital 2D images, we successfully designed and validated a SRD5A3-CDG …
Pathogenic variants in Steroid 5 alpha reductase type 3 (SRD5A3) cause rare inherited congenital disorder of glycosylation known as …
Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG.
Yoldas Celik M, Yazici H, Erdem F, Yuksel Yanbolu A, Aykut A, Durmaz A, Zeybek S, Canda E, Kalkan Ucar S, Coker M. Yoldas Celik M, et al. J Pediatr Endocrinol Metab. 2023 Apr 13;36(6):530-538. doi: 10.1515/jpem-2022-0641. Print 2023 Jun 27. J Pediatr Endocrinol Metab. 2023. PMID: 37042760
Herein, we aimed to expand the clinical characteristics of patients with CDG based on our experience with diagnoses and follow-up of CDG patients from different subtypes. ...RESULTS: There were 8 (57.2 %) females and 6 (42.8 %) males. Diagnoses of the patients were …
Herein, we aimed to expand the clinical characteristics of patients with CDG based on our experience with diagnoses and follow-up of …
A rare case of SRD5A3-CDG in a patient with ataxia and telangiectasia: A case report.
Nabavizadeh SH, Noeiaghdam R, Johari L, Hosseini SA, Esmaeilzadeh H, Alyasin SS. Nabavizadeh SH, et al. Clin Case Rep. 2022 Nov 23;10(11):e6564. doi: 10.1002/ccr3.6564. eCollection 2022 Nov. Clin Case Rep. 2022. PMID: 36439385 Free PMC article.
Steroid 5alpha-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG) is an extremely rare congenital disease. Common manifestations are developmental delay, intellectual disability, ophthalmological abnormalities, cerebellar abnormalities, ataxia, and h …
Steroid 5alpha-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG) is an extremely rare congenital disease. Com …
N-glycoproteomic and proteomic alterations in SRD5A3-deficient fibroblasts.
Garapati K, Ranatunga W, Joshi N, Budhraja R, Sabu S, Kantautas KA, Preston G, Perlstein EO, Kozicz T, Morava E, Pandey A. Garapati K, et al. Glycobiology. 2024 Sep 30;34(11):cwae076. doi: 10.1093/glycob/cwae076. Glycobiology. 2024. PMID: 39360848
SRD5A3-CDG is a congenital disorder of glycosylation (CDG) resulting from pathogenic variants in SRD5A3 and follows an autosomal recessive inheritance pattern. ...We sought to identify N-glycoproteomic and proteomic signatures specific to SRD5A3 …
SRD5A3-CDG is a congenital disorder of glycosylation (CDG) resulting from pathogenic variants in SRD5A3 and foll …
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.
Wilson MP, Kentache T, Althoff CR, Schulz C, de Bettignies G, Mateu Cabrera G, Cimbalistiene L, Burnyte B, Yoon G, Costain G, Vuillaumier-Barrot S, Cheillan D, Rymen D, Rychtarova L, Hansikova H, Bury M, Dewulf JP, Caligiore F, Jaeken J, Cantagrel V, Van Schaftingen E, Matthijs G, Foulquier F, Bommer GT. Wilson MP, et al. Cell. 2024 Jul 11;187(14):3585-3601.e22. doi: 10.1016/j.cell.2024.04.041. Epub 2024 May 30. Cell. 2024. PMID: 38821050 Free PMC article.
It is commonly thought to be directly produced from polyprenol by the enzyme SRD5A3. Instead, we found that dolichol synthesis requires a three-step detour involving additional metabolites, where SRD5A3 catalyzes only the second reaction. ...Accordingly, we report a …
It is commonly thought to be directly produced from polyprenol by the enzyme SRD5A3. Instead, we found that dolichol synthesis requir …
SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype.
Kamarus Jaman N, Rehsi P, Henderson RH, Löbel U, Mankad K, Grunewald S. Kamarus Jaman N, et al. Front Genet. 2021 Dec 1;12:737094. doi: 10.3389/fgene.2021.737094. eCollection 2021. Front Genet. 2021. PMID: 34925443 Free PMC article.
Background: SRD5A3-CDG is a rare N-glycosylation defect caused by steroid 5 alpha reductase type 3 deficiency. ...SRD5A3-CDG is also characterized by variable neurological symptoms including intellectual disability, ataxia, and hypotonia. ...
Background: SRD5A3-CDG is a rare N-glycosylation defect caused by steroid 5 alpha reductase type 3 deficiency. ...SRD5A3 …
SRD5A3-CDG: Twins with an intragenic tandem duplication.
Rieger M, Türk M, Kraus C, Uebe S, Ekici AB, Krumbiegel M, Huchzermeyer C, Reis A, Thiel C. Rieger M, et al. Eur J Med Genet. 2022 May;65(5):104492. doi: 10.1016/j.ejmg.2022.104492. Epub 2022 Mar 23. Eur J Med Genet. 2022. PMID: 35339718
Steroid 5alpha-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG) is a rare metabolic disease mainly characterized by psychomotor disability, visual impairment, and variable eye malformations caused by bi-allelic pathogenic variants in SRD5A3. …
Steroid 5alpha-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG) is a rare metabolic disease mainly character …
Adult phenotype and further phenotypic variability in SRD5A3-CDG.
Kara B, Ayhan Ö, Gökçay G, Başboğaoğlu N, Tolun A. Kara B, et al. BMC Med Genet. 2014 Jan 16;15:10. doi: 10.1186/1471-2350-15-10. BMC Med Genet. 2014. PMID: 24433453 Free PMC article.
BACKGROUND: SRD5A3 is responsible for SRD5A3-CDG, a type of congenital disorder of glycosylation, and mutations have been reported in 15 children. ...Our findings widen the spectrum of phenotypes resulting from SRD5A3 mutations and the clinical variabi …
BACKGROUND: SRD5A3 is responsible for SRD5A3-CDG, a type of congenital disorder of glycosylation, and mutations have be …
Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5alpha-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case.
Kousal B, Honzík T, Hansíková H, Ondrušková N, Čechová A, Tesařová M, Stránecký V, Meliška M, Michaelides M, Lišková P. Kousal B, et al. Folia Biol (Praha). 2019;65(3):134-141. doi: 10.14712/fb2019065030134. Folia Biol (Praha). 2019. PMID: 31638560 Free article. Review.
Steroid 5alpha-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG) is a severe metabolic disease manifesting as muscle hypotonia, developmental delay, cerebellar ataxia and ocular symptoms; typically, nystagmus and optic disc pallor. ...In this study, …
Steroid 5alpha-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG) is a severe metabolic disease manifesting as …
32 results