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Gene Information
Gene symbol: ATP7A
Gene name: ATPase, Cu++ transporting, alpha polypeptide
HGNC ID: 869
Related Genes
Related Sentences
# |
PMID |
Sentence |
1 |
17549255
|
Mutations in the key enzyme of sialic acid biosynthesis, uridine diphospho-N-acetylglucosamine 2-epimerase/N-acetylmannosamine (ManNAc) kinase (GNE/MNK), result in hereditary inclusion body myopathy (HIBM), an adult-onset, progressive neuromuscular disorder.
|
2 |
17549255
|
We created knockin mice harboring the M712T Gne/Mnk mutation.
|
3 |
17549255
|
Survivors exhibited improved renal histology, increased sialylation of podocalyxin, and increased Gne/Mnk protein expression and Gne-epimerase activities.
|
4 |
17549255
|
Mutations in the key enzyme of sialic acid biosynthesis, uridine diphospho-N-acetylglucosamine 2-epimerase/N-acetylmannosamine (ManNAc) kinase (GNE/MNK), result in hereditary inclusion body myopathy (HIBM), an adult-onset, progressive neuromuscular disorder.
|
5 |
17549255
|
We created knockin mice harboring the M712T Gne/Mnk mutation.
|
6 |
17549255
|
Survivors exhibited improved renal histology, increased sialylation of podocalyxin, and increased Gne/Mnk protein expression and Gne-epimerase activities.
|
7 |
17549255
|
Mutations in the key enzyme of sialic acid biosynthesis, uridine diphospho-N-acetylglucosamine 2-epimerase/N-acetylmannosamine (ManNAc) kinase (GNE/MNK), result in hereditary inclusion body myopathy (HIBM), an adult-onset, progressive neuromuscular disorder.
|
8 |
17549255
|
We created knockin mice harboring the M712T Gne/Mnk mutation.
|
9 |
17549255
|
Survivors exhibited improved renal histology, increased sialylation of podocalyxin, and increased Gne/Mnk protein expression and Gne-epimerase activities.
|
|