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ProteomicsGmppa defects result in a treatable syndromic myopathy with α-Dystroglycan hyperglycosylation
Mutations in GDP-mannose-pyrophosphorylase-A (Gmppa) are associated with a syndromic disorder with deficits such as muscular hypotonia and weakness, achalasia, alacrima, and mental retardation (AAMR-syndrome). Gmppa is catalytically inactive, while its homolog Gmppb converts GTP and mannose-1-phosph...
ORGANISM(S): Mus musculus (Mouse) 
2021-04-15 | PXD014260 | Pride
Therapy Congenital disorder of glycosylation Gmppa Myopathy Skeletal muscle Dystroglycan 
UnknownGMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation.
Not available
S-EPMC8087212 | biostudies-literature
UnknownMutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
Not available
S-EPMC3791256 | biostudies-literature
UnknownPhenotypic and genotypic description of GMPPA-congenital disorder of glycosylation: A review of 26 cases.
Not available
S-EPMC12746796 | biostudies-literature
UnknownA rare cause of infantile achalasia: GMPPA-congenital disorder of glycosylation with two novel compound heterozygous variants.
Not available
S-EPMC9283290 | biostudies-literature
UnknownA Novel GMPPA Mutation in Two Adult Sisters with Achalasia, Alacrima, Short Stature, Dysmorphism, and Intellectual Disability.
Not available
S-EPMC5836150 | biostudies-literature
ProteomicsImpact of mannosylation on structure and functionality of ER and Golgi
Many proteins undergo glycosylation in the endoplasmic reticulum (ER) and the Golgi apparatus. Altered glycosylation can manifest in serious, sometimes fatal malfunctions. We recently showed that mutations in the cytoplasmic protein GDP-mannose pyrophosphorylase A (GMPPA) cause a syndrome characteri...
ORGANISM(S): Mus musculus (Mouse) 
2023-03-11 | PXD037129 | Pride
Golgi network  endoplasmic reticulum  mannosylation 
UnknownImpact of Hypermannosylation on the Structure and Functionality of the ER and the Golgi Complex.
Not available
S-EPMC9856158 | biostudies-literature
UnknownUbiquitination contributes to the regulation of GDP-mannose pyrophosphorylase B activity.
Not available
S-EPMC11228364 | biostudies-literature
UnknownAssociation of specific gene mutations derived from machine learning with survival in lung adenocarcinoma.
Not available
S-EPMC6231670 | biostudies-literature
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