The correlation between multiple congenital anomalies hypotonia seizures syndrome 2 and PIGA: a case of novel PIGA germline variant and literature review-Reference-Cited by-同舟云学术

The correlation between multiple congenital anomalies hypotonia seizures syndrome 2 and PIGA: a case of novel PIGA germline variant and literature review

Published:2022-09-18 Issue:11 Volume:49 Page:10469-10477
ISSN:0301-4851
Container-title:Molecular Biology Reports
language:en
Short-container-title:Mol Biol Rep

Author:

Liu Xiangyu,Meng Jing,Ma Jinhui,Shu Jianbo,Gu Chunyu,Chen Xiaofang,Li Dong,Cai Chunquan^ORCID

Funder

National Natural Science Foundation of China

The program of Tianjin Science and Technology Plan

The Public Health and Technology project of Tianjin

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s11033-022-07614-8.pdf

Reference33 articles.

1. Kinoshita T (2014) Biosynthesis and deficiencies of glycosylphosphatidylinositol. Proc Jpn Acad Ser B Phys Biol Sci 90(4):130–143. doi: https://doi.org/10.2183/pjab.90.130

2. Liu YS, Fujita M (2020) Mammalian GPI-anchor modifications and the enzymes involved. Biochem Soc Trans 48(3):1129–1138. doi: https://doi.org/10.1042/BST20191142

3. Yadav U, Khan MA (2018) Targeting the GPI biosynthetic pathway. Pathog Glob Health 112(3):115–122. doi: https://doi.org/10.1080/20477724.2018.1442764

4. Kinoshita T (2016) Glycosylphosphatidylinositol (GPI) anchors: Biochemistry and cell biology: Introduction to a thematic review series. J Lipid Res 57(1):4–5. doi: https://doi.org/10.1194/jlr.E065417

5. Fujita M, Kinoshita T (2012) GPI-anchor remodeling: Potential functions of GPI-anchors in intracellular trafficking and membrane dynamics. Biochim Biophys Acta 1821(8):1050–1058. doi: https://doi.org/10.1016/j.bbalip.2012.01.004

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