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The protein encoded by GNE is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids.
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The results demonstrate a critical novel role for gne in embryonic development and particularly in myofiber development, muscle integrity and activity.
Thirty-five different mutations in the GNE gene were recorded in a cohort of GNE-myopathy patients from the Indian subcontinent. p.Val727Met is likely to be a founder mutation of Indian subcontinent.
the interaction between GNE and alpha-actinin 1 (zeige ACTN1 Antikörper) and alpha-actinin 2 (zeige ACTN2 Antikörper) occur at different sites in the alpha-actinin (zeige ACTN1 Antikörper) molecules and that for alpha-actinin 2 (zeige ACTN2 Antikörper) the interaction site is located at the C-terminus of the protein.
the half-life of the M743T variant is two times longer than for the wild-type GNE protein. This study provides that the balance of phosphorylation and O-GlcNAcylation is decisive involved in efficiency and regulation of GNE.
The results of this study widen the spectra of mutations to copy number variations encompassing 5'UTR (zeige UTS2R Antikörper), underscoring the pivotal role of the hGNE1 transcript in GNE myopathy.
the complex crystal structure of the N-terminal epimerase part of human GNE shows a tetramer in which UDP binds to the active site and CMP (zeige MATN1 Antikörper)-Neu5Ac binds to the dimer-dimer interface.
This study confirms that c.2228T>C (p.M743T) is the most prevalent disease-causing variant in the non-Jewish Persian population, but other GNE variants can cause GNE myopathy in this population.
examined the consequences of the mutated GNEM743T enzyme in myoblasts cultures, depicted by the pattern of central signaling proteins of the PI3K (zeige PIK3CA Antikörper)/AKT (zeige AKT1 Antikörper), BCL2 (zeige BCL2 Antikörper) and ARTS/XIAP (zeige XIAP Antikörper) pathways
Novel GNE mutations were linked to GNE myopathy in patients from mainland China.
GNE is a master regulator of sialic acid synthesis in the vertebrates. (Review)
mutation in UDP-N-acetylglucosamine2-epimerase/N-acetylmannosamine kinase (GNE) affects beta1-integrin-mediated cell adhesion process in GNE mutant cells
Analysis of differential Gne transcript expression of the two splice variants, Gne1 and Gne2.
GNE is strongly involved in cardiac tissue and skeletal muscle early survival and organization.
Our findings suggest that GNE expression is induced when myofibers are damaged or regenerating, and that GNE plays a role in muscle regeneration.
sialic acid biosynthesis is involved in proliferation and expression of GNE
inactivation of the UDP-GlcNAc (zeige B3GNT2 Antikörper) 2-epimerase (zeige RENBP Antikörper) by gene targeting causes early embryonic lethality in mice, thereby emphasizing the fundamental role of this bifunctional enzyme and sialylation during development
compared the amount of membrane-bound sialic acids of wildtype mice with those of heterozygous GNE-deficient mice
Mutations in the Gne enzyme, which encode the rate-limiting enzyme in sialic acid biosynthesis, are causative of distal myopathies with rimmed vacuoles or hereditary inclusion body myopathy.
The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms.
, bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
, glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
, bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase-like
, N-acylmannosamine kinase
, UDP-GlcNAc-2-epimerase/ManAc kinase
, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
, UDP-N-acetylglucosamine-2-epimerase/N- acetylmannosamine kinase