C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures-Reference-Cited by-同舟云学术

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C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures

Published:2022-02-02 Issue:8 Volume:141 Page:1423-1429
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Salian Smrithi,Guo Xin-Yu,Murakami Yoshiko,Kinoshita Taroh,Kaur Parneet,Shukla Anju,Girisha Katta M.,Fujita Morihisa,Campeau Philippe M.

Funder

National Natural Science Foundation of China

Department of Health Research, Government of India

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s00439-022-02433-0.pdf

Reference21 articles.

1. Bellai-Dussault K, Nguyen TTM, Baratang NV et al (2019) Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders. Clin Genet 95:112–121. https://doi.org/10.1111/cge.13425

2. Bersuker K, Peterson CWH, To M et al (2018) A proximity labeling strategy provides insights into the composition and dynamics of lipid droplet proteomes. Dev Cell 44:97–112. https://doi.org/10.1016/j.devcel.2017.11.020

3. Carmody LC, Blau H, Danis D et al (2020) Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes. Orphanet J Rare Dis 15:40. https://doi.org/10.1186/s13023-020-1313-0

4. Chen R, Walter EI, Parker G et al (1998) Mammalian glycophosphatidylinositol anchor transfer to proteins and posttransfer deacylation. Proc Natl Acad Sci USA 95:9512–9517. https://doi.org/10.1073/pnas.95.16.9512

5. Chiyonobu T, Inoue N, Morimoto M et al (2014) Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome. J Med Genet 51:203–207. https://doi.org/10.1136/jmedgenet-2013-102156

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Protein lipidation in health and disease: molecular basis, physiological function and pathological implication;Signal Transduction and Targeted Therapy;2024-03-15

2. Structure and Function of the Glycosylphosphatidylinositol Transamidase, a Transmembrane Complex Catalyzing GPI Anchoring of Proteins;Subcellular Biochemistry;2024

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