Associated Papers
Achalasia and mental retardation in a child with uniparental disomy of GMPPA treated with POEM.
Qiu X et al.
Gastroenterology Report, 2025
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM
A rare cause of infantile achalasia: GMPPA-congenital disorder of glycosylation with two novel compound heterozygous variants.
Geiculescu I et al.
American Journal of Medical Genetics. Part A, 2022
35665995 (PubMed )
Supplement: AJMG-188-2438-s002.xlsx › Sheet1
GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation.
Franzka P et al.
The Journal of Clinical Investigation, 2021
Cryo-EM structures of human GMPPA-GMPPB complex reveal how cells maintain GDP-mannose homeostasis.
Zheng L et al.
Nature Structural & Molecular Biology, 2021
Mutations in HAO1 encoding glycolate oxidase cause isolated glycolic aciduria.
Frishberg Y et al.
Journal of Medical Genetics, 2014
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
Koehler K et al.
American Journal of Human Genetics, 2013
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