Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality
about
Antisense mediated splicing modulation for inherited metabolic diseases: challenges for deliveryGlycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG)Metabolic manipulation of glycosylation disorders in humans and animal modelsMolecular analysis of phosphomannomutase (PMM) genes reveals a unique PMM duplication event in diverse Triticeae species and the main PMM isozymes in bread wheat tissues.Mannose metabolism: more than meets the eye.Improvement of dolichol-linked oligosaccharide biosynthesis by the squalene synthase inhibitor zaragozic acid.The normal phenotype of Pmm1-deficient mice suggests that Pmm1 is not essential for normal mouse development.Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts.Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency.Understanding human glycosylation disorders: biochemistry leads the charge.Synaptic roles for phosphomannomutase type 2 in a new Drosophila congenital disorder of glycosylation disease modelTowards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients.Insufficient ER-stress response causes selective mouse cerebellar granule cell degeneration resembling that seen in congenital disorders of glycosylation.Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice.Mouse models for congenital disorders of glycosylation.A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2.Glycosylation and stem cells: Regulatory roles and application of iPSCs in the study of glycosylation-related disorders.Molecular imaging of N-linked glycosylation suggests glycan biosynthesis is a novel target for cancer therapy.Mammalian phosphomannomutase PMM1 is the brain IMP-sensitive glucose-1,6-bisphosphataseLack of phosphomannomutase 2 affects Xenopus laevis morphogenesis and the non-canonical Wnt5a/Ror2 signalling.A Temperature-sensitive mutation in the Arabidopsis thaliana phosphomannomutase gene disrupts protein glycosylation and triggers cell death.Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation.A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG.The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.Molecular cloning and functional analysis of the phosphomannomutase (PMM) gene from Dendrobium officinale and evidence for the involvement of an abiotic stress response during germination.CDG Therapies: From Bench to Bedside.
P2860
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P2860
Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality
description
2006 nî lūn-bûn
@nan
2006 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Targeted disruption of the mou ...... uses early embryonic lethality
@ast
Targeted disruption of the mou ...... uses early embryonic lethality
@en
type
label
Targeted disruption of the mou ...... uses early embryonic lethality
@ast
Targeted disruption of the mou ...... uses early embryonic lethality
@en
prefLabel
Targeted disruption of the mou ...... uses early embryonic lethality
@ast
Targeted disruption of the mou ...... uses early embryonic lethality
@en
P2093
P2860
P356
P1476
Targeted disruption of the mou ...... uses early embryonic lethality
@en
P2093
Christian Körner
Christian Thiel
Gert Matthijs
Torben Lübke
P2860
P304
P356
10.1128/MCB.02391-05
P407
P577
2006-08-01T00:00:00Z