دورية أكاديمية
Abnormal expression of lysosomal glycoproteins in patients with congenital disorders of glycosylation.
العنوان: | Abnormal expression of lysosomal glycoproteins in patients with congenital disorders of glycosylation. |
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المؤلفون: | Sabry S; Biochemical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt. sas_pharmacienne@yahoo.com., Eissa NR; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt. |
المصدر: | BMC research notes [BMC Res Notes] 2023 Apr 17; Vol. 16 (1), pp. 53. Date of Electronic Publication: 2023 Apr 17. |
نوع المنشور: | Journal Article |
اللغة: | English |
بيانات الدورية: | Publisher: Biomed Central Country of Publication: England NLM ID: 101462768 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-0500 (Electronic) Linking ISSN: 17560500 NLM ISO Abbreviation: BMC Res Notes Subsets: MEDLINE |
أسماء مطبوعة: | Original Publication: London : Biomed Central, 2008. |
مواضيع طبية MeSH: | Congenital Disorders of Glycosylation*/genetics , Congenital Disorders of Glycosylation*/diagnosis , Congenital Disorders of Glycosylation*/metabolism, Humans ; Glycosylation ; Glycoproteins/genetics ; Glycoproteins/metabolism ; Homozygote ; Lysosomes/metabolism ; Lysosomes/pathology ; Mutation |
مستخلص: | Objective: The study of the impact of some inherited defects in glycosylation on the biosynthesis of some lysosomal glycoproteins. Results description: Whole-exome sequencing revealed a homozygous variant; 428G > A; p. (R143K) in SRD5A3 in one patient and a heterozygous one c.46G > A p. (Gly16Arg) in SLC35A2 in the other patient. Both variants were predicted to be likely pathogenic. Lysosome-associated membrane glycoprotein 2 (LAMP2) immunodetection in both cases showed a truncated form of the protein. Cystinosin (CTN) protein appeared as normal and truncated forms in both patients in ratios of the mature to truncated forms of CTN were lower than the control. The levels of the truncated forms of both cellular proteins were higher in the SRD5A3-CDG case compared to the SLC35A2-CDG case. The tetrameric form of cathepsin C (CTSC) was expressed at low levels in both cases with congenital disorder of glycosylation (CDG). SLC35A2-CDG patient had one extra-unknown band while SRD5A3-CDG patient had a missing band of CTSC forms. The expression patterns of lysosomal glycoproteins could be different between different types of CDG. (© 2023. The Author(s).) |
References: | Prog Lipid Res. 1985;24(4):269-309. (PMID: 2819898) J Inherit Metab Dis. 2020 Mar;43(2):357-366. (PMID: 31415112) Indian J Med Res. 2018 Apr;147(4):422-426. (PMID: 29998879) Lab Invest. 1983 May;48(5):556-64. (PMID: 6843086) J Inherit Metab Dis. 2015 Sep;38(5):931-40. (PMID: 25778940) Eur J Med Genet. 2022 Oct;65(10):104605. (PMID: 36058494) Cell. 2010 Jul 23;142(2):203-17. (PMID: 20637498) Front Pediatr. 2021 Sep 03;9:715151. (PMID: 34540767) J Lipid Res. 2013 Nov;54(11):3098-105. (PMID: 23958596) Handb Clin Neurol. 2013;113:1737-43. (PMID: 23622397) Mol Genet Metab. 2013 Nov;110(3):342-4. (PMID: 23890587) Eur J Paediatr Neurol. 2012 Sep;16(5):554-6. (PMID: 22240719) Mol Cell Proteomics. 2017 Mar;16(3):457-468. (PMID: 28082515) Arch Biochem Biophys. 1993 Oct;306(1):103-10. (PMID: 8215389) Biochimie. 2019 Oct;165:123-130. (PMID: 31351090) Front Cell Dev Biol. 2019 Aug 13;7:157. (PMID: 31457009) Eur J Biochem. 1985 Nov 15;153(1):211-6. (PMID: 4065148) Am J Hum Genet. 2012 Jul 13;91(1):15-26. (PMID: 22683087) BMC Med Genet. 2014 Jan 16;15:10. (PMID: 24433453) Genet Med. 2015 May;17(5):405-24. (PMID: 25741868) Front Immunol. 2018 Nov 27;9:2754. (PMID: 30538706) Hum Mol Genet. 2015 Apr 15;24(8):2125-37. (PMID: 25552646) Biochem Biophys Res Commun. 2011 Apr 22;407(4):627-32. (PMID: 21419101) J Inherit Metab Dis. 2017 Jul;40(4):569-586. (PMID: 28484880) Proc Natl Acad Sci U S A. 1970 May;66(1):153-9. (PMID: 5273893) Biochemistry. 2001 Feb 13;40(6):1671-8. (PMID: 11327826) J Inherit Metab Dis. 2020 Jul;43(4):694-700. (PMID: 32216104) Orphanet J Rare Dis. 2016 Jun 24;11(1):84. (PMID: 27343064) Adv Neurobiol. 2014;9:47-70. (PMID: 25151374) Ophthalmic Genet. 2018 Oct;39(5):628-630. (PMID: 30019980) |
فهرسة مساهمة: | Keywords: Cathepsin C; Congenital disorders of glycosylation; Cystinosin; Lysosome-associated membrane; Lysosomes; Total leukocytes |
المشرفين على المادة: | 0 (Glycoproteins) |
تواريخ الأحداث: | Date Created: 20230418 Date Completed: 20230419 Latest Revision: 20230421 |
رمز التحديث: | 20230421 |
مُعرف محوري في PubMed: | PMC10108535 |
DOI: | 10.1186/s13104-023-06314-1 |
PMID: | 37069668 |
قاعدة البيانات: | MEDLINE |
تدمد: | 1756-0500 |
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DOI: | 10.1186/s13104-023-06314-1 |