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Article

Novel GNE missense variants impair de novo sialylation and cause defective angiogenesis in the developing brain in mice.

Blood advances - 27 Feb 2024

Huang Lulu, Kondo Yuji, Cao Lijuan, Han Jingjing, Li Tianyi, Zuo Bin, Yang Fei, Li Yun, Ma Zhenni, Bai Xia, Jiang Miao, Ruan Changgeng, Xia Lijun

Abstract excerpt

ABSTRACT: Glucosamine (UDP-N-acetyl)-2-epimerase and N-acetylmannosamine (ManNAc) kinase (GNE) is a cytosolic enzyme in de novo sialic acid biosynthesis. Congenital deficiency of GNE causes an autosomal recessive genetic disorder associated with hereditary inclusion body myopathy and macrothrombocytopenia. Here, we report a pediatric patient with severe macrothrombocytopenia carrying 2 novel GNE missense...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38237079
DOI: 10.1182/bloodadvances.2023011490
PMCID: PMC10879683

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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