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Unknown
(60)
Transcriptomics
(9)
Genomics
(3)
Proteomics
(2)
Metabolomics
(1)
Organisms
Homo sapiens
(5)
Mus musculus
(3)
Pectobacterium carotovorum
(1)
Pectobacterium atrosepticum
(1)
Sus scrofa
(1)
Organisms
Homo sapiens
(2)
Danio rerio
(1)
Repository
biostudies-arrayexpress
(7)
ENA
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geo
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pride
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MetaboLights
(1)
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Brain
(1)
Fibroblast
(1)
Pluripotent stem cell
(1)
Disease
Congenital disorder of glycosylation
(2)
Technology Type
Mass Spectrometry
(2)
Mass spectrometry
(1)
Bottom-up proteomics
(1)
Shotgun proteomics
(1)
Instrument Platform
Liquid Chromatography MS - negative - HILIC
(1)
Liquid Chromatography MS - positive - HILIC
(1)
Publication Date
2012
(4)
2024
(3)
2015
(1)
2011
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2010
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2022
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2025
(1)
First Public Date
2024
(2)
2022
(1)
Study type
RNA-seq of coding RNA
(4)
Transcription profiling by array
(2)
RNA-seq of non coding RNA
(1)
Release Date
2023
(8)
2025
(7)
2024
(7)
2012
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2019
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2006
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2005
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2003
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2001
(1)
Lab affiliation
Department of Laboratory Medicine and Pathology Mayo Clinic, Rochester, Minnesota 55905 United States
(2)
Tags
xref:PubMed:38430517
(1)
xref:PubMed:34420056
(1)
xref:PubMed:39561044
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[Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency].
Not available
S-EPMC9979379
|
biostudies-literature
Cite
Phosphomannomutase 2 hyperinsulinemia: Recent advances of genetic pathogenesis, diagnosis, and management.
Not available
S-EPMC9884677
|
biostudies-literature
Cite
<i>In Silico</i> Analysis of Phosphomannomutase-2 Dimer Interface Stability and Heterodimerization with Phosphomannomutase-1.
Not available
S-EPMC12195792
|
biostudies-literature
Cite
Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality.
Not available
S-EPMC1592760
|
biostudies-literature
Cite
Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation.
Not available
S-EPMC3893156
|
biostudies-literature
Cite
AAV9-based
PMM2
gene replacement augments PMM2 expression and improves glycosylation in primary fibroblasts of patients with phosphomannomutase 2 deficiency (PMM2-CDG).
Not available
S-EPMC10733668
|
biostudies-literature
Cite
Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG).
Not available
S-EPMC4824866
|
biostudies-literature
Cite
Nrf2 activation attenuates genetic endoplasmic reticulum stress induced by a mutation in the phosphomannomutase 2 gene in zebrafish.
Not available
S-EPMC5856520
|
biostudies-literature
Cite
Liver transplantation recovers hepatic N-glycosylation with persistent IgG glycosylation abnormalities: Three-year follow-up in a patient with phosphomannomutase-2-congenital disorder of glycosylation.
Not available
S-EPMC10164344
|
biostudies-literature
Cite
Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia.
Not available
S-EPMC10181953
|
biostudies-literature
Cite
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