Biosynthesis of GPI anchored proteins, its deficiencies and treatment

Murakami, Yoshiko

doi:https://doi.org/10.1038/s10038-025-01379-1

Biosynthesis of GPI anchored proteins, its deficiencies and treatment

Murakami, Yoshiko

Journal of Human Genetics, 2025, 10, 293

アクセス数:79件（2026-02-12 17:57 集計）

固定URL: https://hdl.handle.net/11094/102797

閲覧可能ファイル

ファイル	フォーマット	利用条件	サイズ	閲覧回数	利用開始日	説明	information
JHumGenet_10_293	pdf	なし	1.15 MB		2026.03.26

論文情報

ファイル出力 EndNote Basic出力 Mendeley出力

タイトル	Biosynthesis of GPI anchored proteins, its deficiencies and treatment
著者	NRID 1000000304048 1000000304048 ORCID 0000-0002-4870-5734 0000-0002-4870-5734 researchmap permalink read0191261 read0191261 Scopus Author ID 35725869400 35725869400 著者名 Murakami, Yoshiko
内容	Murakami Yoshiko. Biosynthesis of GPI anchored proteins, its deficiencies and treatment. Journal of Human Genetics 10, 293 (2025); https://doi.org/10.1038/s10038-025-01379-1.
抄録	Glycosylphosphatidylinositol (GPI) anchoring is a widely conserved post-translational modification in eukaryotes, in which various proteins—such as receptors, cell adhesion molecules, and complement regulatory proteins—are modified with a GPI moiety and tethered to the cell membrane. GPI anchors are synthesized in the endoplasmic reticulum (ER), where they are attached to newly translated proteins. These GPI-anchored proteins (GPI-APs) then undergo structural remodeling and are transported to the cell surface. To date, approximately 30 gene products have been identified as essential for the GPI biosynthetic and remodeling pathways. In addition to paroxysmal nocturnal hemoglobinuria (PNH), a well-characterized acquired hematologic disorder caused by somatic mutations in GPI biosynthesis genes, an increasing number of inherited GPI deficiencies (IGDs) have recently been reported. These congenital disorders are typically caused by hypomorphic mutations in GPI biosynthetic genes and present with neurological abnormalities. In this review, we provide an overview of the biosynthetic pathway of GPI anchors in mammalian cells and the genetic disorders resulting from its dysfunction. We also discuss emerging therapeutic approaches currently under investigation, including gene therapy, which hold promise for improving clinical outcomes in patients with IGD.
出版者	Springer Science and Business Media LLC
収録物名	Journal of Human Genetics
巻(号)	10
ページ	293
刊行年月	2025-09-26
言語	英語
ハンドルURL	https://hdl.handle.net/11094/102797
PISSN	14345161
eISSN	1435232X
関連情報 (isVersionOf)	DOI (出版社版) https://doi.org/10.1038/s10038-025-01379-1
アクセス権	embargoed access
権利情報	The full-text file will be made open to the public on 26 March 2026 in accordance with the publisher's policy.
出版タイプ	Accepted Manuscript
カテゴリ	学術雑誌論文 Journal Article

資源タイプ	学術雑誌論文
ローカル資源タイプ	学術雑誌論文
DCMI資源タイプ	text
DCTERMS.bibliographicCitation	Journal of Human Genetics. 2025, 10, p. 293
DC.title	Biosynthesis of GPI anchored proteins, its deficiencies and treatment
DC.creator	Murakami, Yoshiko
DC.publisher	Springer Science and Business Media LLC
DC.language' scheme='DCTERMS.RFC1766	英語
DC.type' scheme='DCTERMS.DCMIType	text
DCTERMS.issued' scheme='DCTERMS.W3CDTF	2025-09-26
DC.identifier	https://doi.org/10.1038/s10038-025-01379-1
DC.description	Murakami Yoshiko. Biosynthesis of GPI anchored proteins, its deficiencies and treatment. Journal of Human Genetics 10, 293 (2025); https://doi.org/10.1038/s10038-025-01379-1.
DCTERMS.abstract	Glycosylphosphatidylinositol (GPI) anchoring is a widely conserved post-translational modification in eukaryotes, in which various proteins—such as receptors, cell adhesion molecules, and complement regulatory proteins—are modified with a GPI moiety and tethered to the cell membrane. GPI anchors are synthesized in the endoplasmic reticulum (ER), where they are attached to newly translated proteins. These GPI-anchored proteins (GPI-APs) then undergo structural remodeling and are transported to the cell surface. To date, approximately 30 gene products have been identified as essential for the GPI biosynthetic and remodeling pathways. In addition to paroxysmal nocturnal hemoglobinuria (PNH), a well-characterized acquired hematologic disorder caused by somatic mutations in GPI biosynthesis genes, an increasing number of inherited GPI deficiencies (IGDs) have recently been reported. These congenital disorders are typically caused by hypomorphic mutations in GPI biosynthetic genes and present with neurological abnormalities. In this review, we provide an overview of the biosynthetic pathway of GPI anchors in mammalian cells and the genetic disorders resulting from its dysfunction. We also discuss emerging therapeutic approaches currently under investigation, including gene therapy, which hold promise for improving clinical outcomes in patients with IGD.
DC.rights	The full-text file will be made open to the public on 26 March 2026 in accordance with the publisher's policy.
DC.format	102797
citation_title	Biosynthesis of GPI anchored proteins, its deficiencies and treatment
citation_author	Murakami, Yoshiko
citation_publisher	Springer Science and Business Media LLC
citation_language	英語
citation_date	2025-09-26
citation_journal_title	Journal of Human Genetics
citation_volume	10
citation_firstpage	293
citation_doi	https://doi.org/10.1038/s10038-025-01379-1
citation_public_url	https://hdl.handle.net/11094/102797

Biosynthesis of GPI anchored proteins, its deficiencies and treatment

閲覧可能ファイル

論文情報

論文詳細を表示