Biallelic mutations in UGDH cause congenital microcephaly-Reference-Cited by-同舟云学术

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Biallelic mutations in UGDH cause congenital microcephaly

Published:2023-09 Issue:5 Volume:10 Page:1816-1819
ISSN:2352-3042
Container-title:Genes & Diseases
language:en
Short-container-title:Genes & Diseases

Author:

Shu Li,Xie Guangyao,Mei Daoqi,Xu Rui,Liu Shixian,Xiao Bo,Li Xing,Xie Yuanyuan,Mao Xiao,Wang Hua

Publisher

Elsevier BV

Subject

Cell Biology,Genetics (clinical),Molecular Biology,Biochemistry

Reference5 articles.

1. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy;Hengel;Nat Commun,2020

2. Integration of sugar metabolism and proteoglycan synthesis by UDP-glucose dehydrogenase;Zimmer;J Histochem Cytochem,2021

3. The Drosophila sugarless gene modulates Wingless signaling and encodes an enzyme involved in polysaccharide biosynthesis;Häcker;Development,1997

4. UDP-glucose dehydrogenase polymorphisms from patients with congenital heart valve defects disrupt enzyme stability and quaternary assembly;Hyde;J Biol Chem,2012

5. A missense mutation in the UGDH gene is associated with developmental delay and axial hypotonia;Alhamoudi;Front Pediatr,2020

Cited by 1 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. Expanded phenotypic spectrum of UDP‐glucose‐6‐dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy;American Journal of Medical Genetics Part A;2024-07-12

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