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The lateral meningocele syndrome mutation causes marked osteopenia in mice
Lateral meningocele syndrome (LMS) is a rare genetic disorder characterized by neurological complications and osteoporosis. LMS is associated with mutations in exon 33 of NOTCH3 leading to a truncated protein lacking sequences for NOTCH3 degradation and presumably causing NOTCH3 gain of function. To...
Uloženo v:
| Vydáno v: | J Biol Chem |
|---|---|
| Hlavní autoři: | , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
American Society for Biochemistry and Molecular Biology
2018
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6130932/ https://ncbi.nlm.nih.gov/pubmed/30042232 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.RA118.004242 |
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