Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG).

Molecular & Cellular Proteomics : MCP
Christina T ThieslerFalk F R Buettner

Abstract

PMM2-CDG, formerly known as congenital disorder of glycosylation-Ia (CDG-Ia), is caused by mutations in the gene encoding phosphomannomutase 2 (PMM2). This disease is the most frequent form of inherited CDG-diseases affecting protein N-glycosylation in human. PMM2-CDG is a multisystemic disease with severe psychomotor and mental retardation. In order to study the pathophysiology of PMM2-CDG in a human cell culture model, we generated induced pluripotent stem cells (iPSCs) from fibroblasts of a PMM2-CDG-patient (PMM2-iPSCs). Expression of pluripotency factors andin vitrodifferentiation into cell types of the three germ layers was unaffected in the analyzed clone PMM2-iPSC-C3 compared with nondiseased human pluripotent stem cells (hPSCs), revealing no broader influence of the PMM2 mutation on pluripotency in cell culture. Analysis of gene expression by deep-sequencing did not show obvious differences in the transcriptome between PMM2-iPSC-C3 and nondiseased hPSCs. By multiplexed capillary gel electrophoresis coupled to laser induced fluorescence detection (xCGE-LIF) we could show that PMM2-iPSC-C3 exhibit the common hPSC N-glycosylation pattern with high-mannose-type N-glycans as the predominant species. However, phosphomannomuta...Continue Reading

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Citations

Apr 4, 2016·Biochimica Et Biophysica Acta·René HennigErdmann Rapp
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Mar 13, 2018·Chemical Reviews·Grace LuLisa A Holland
Nov 18, 2021·ACS Chemical Biology·Paulina SosickaHudson H Freeze

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Methods Mentioned

BETA
glycosylation
flow cytometry
Feature Extraction
PCR
RNA-Seq
electrophoresis
Protein Assay
Fluorescence
chromosomal aberrations

Software Mentioned

glyXera
SaqMan TM
Zen
- Workbench
Odyssey
Feature Extraction
Lifescope
Lasergene
Flowing
GlycoWorkbench

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