دورية أكاديمية
أعرض في EDS

Abnormal expression of lysosomal glycoproteins in patients with congenital disorders of glycosylation.

التفاصيل البيبلوغرافية
العنوان: Abnormal expression of lysosomal glycoproteins in patients with congenital disorders of glycosylation.
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).)
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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
الوصف
تدمد:1756-0500
DOI:10.1186/s13104-023-06314-1