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The Glycosylphosphatidylinositol biosynthesis pathway in human diseases.
Wu T, Yin F, Guang S, He F, Yang L, Peng J. Wu T, et al. Orphanet J Rare Dis. 2020 May 28;15(1):129. doi: 10.1186/s13023-020-01401-z. Orphanet J Rare Dis. 2020. PMID: 32466763 Free PMC article. Review.
Glycosylphosphatidylinositol biosynthesis defects cause rare genetic disorders characterised by developmental delay/intellectual disability, seizures, dysmorphic features, and diverse congenital anomalies associated with a wide range of additional features (h
Glycosylphosphatidylinositol biosynthesis defects cause rare genetic disorders characterised by developmental delay/int
Deciphering the premature mortality in PIGA-CDG - An untold story.
Bayat A, Kløvgaard M, Johannesen KM, Barakat TS, Kievit A, Montomoli M, Parrini E, Pietrafusa N, Schelhaas J, van Slegtenhorst M, Miya K, Guerrini R, Tranebjærg L, Tümer Z, Rubboli G, Møller RS. Bayat A, et al. Epilepsy Res. 2021 Feb;170:106530. doi: 10.1016/j.eplepsyres.2020.106530. Epub 2020 Dec 9. Epilepsy Res. 2021. PMID: 33508693 Review.
OBJECTIVE: Congenital disorder of glycosylation (CDG) due to a defective phosphatidylinositol glycan anchor biosynthesis class A protein (PIGA) is a severe X-linked developmental and epileptic encephalopathy. ...There were no cases of definite or probable sudden une …
OBJECTIVE: Congenital disorder of glycosylation (CDG) due to a defective phosphatidylinositol glycan anchor biosynthesis class …
Molecular genetics of paroxysmal nocturnal hemoglobinuria.
Inoue N, Murakami Y, Kinoshita T. Inoue N, et al. Int J Hematol. 2003 Feb;77(2):107-12. doi: 10.1007/BF02983208. Int J Hematol. 2003. PMID: 12627844 Review.
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hematopoietic stem cell disorder characterized by the clonal expansion of glycosylphosphatidylinositol (GPI)-deficient cells that leads to complement-mediated hemolysis. ...The next 10 years should witness the discov …
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hematopoietic stem cell disorder characterized by the clonal expansion of glycos
Paroxysmal nocturnal hemoglobinuria as a molecular disease.
Rosse WF. Rosse WF. Medicine (Baltimore). 1997 Mar;76(2):63-93. doi: 10.1097/00005792-199703000-00001. Medicine (Baltimore). 1997. PMID: 9100736 Free article. Review.
About 15 proteins have been found to be lacking or markedly deficient on the abnormal blood cells. ...PNH is a chronic disease with more than half of adult patients surviving 15 years or more; prognosis is less good in children....
About 15 proteins have been found to be lacking or markedly deficient on the abnormal blood cells. ...PNH is a chronic disease with m …