✦ LIBER ✦

Missense mutations in the human SDHB gene increase protein degradation without altering intrinsic enzymatic function

✍ Scribed by Yang, Chunzhang (author);Matro, Joey C. (author);Huntoon, Kristin M. (author);Ye, Donald Y. (author);Huynh, Thanh T. (author);Fliedner, Stephanie M.J. (author);Breza, Jan (author);Zhuang, Zhengping (author);Pacak, Karel (author)

Book ID: 119941749
Publisher: The Federation of American Societies for Experimental Biology
Year: 2012
Tongue: English
Weight: 464 KB
Volume: 26
Category: Article
ISSN: 0892-6638
DOI: 10.1096/fj.12-210146

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Missense mutations in the human SDHB gen

Missense mutations in the human SDHB gene increase protein degradation without altering intrinsic enzymatic function

✍ Yang, Chunzhang (author);Matro, Joey C. (author);Huntoon, Kristin M. (author);Ye 📂 Article 📅 2012 🏛 The Federation of American Societies for Experimen 🌐 English ⚖ 464 KB

Alterations in protein aggregation and d

Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH)

✍ Paula J. Waters; Michael A. Parniak; A. Stacy Hewson; Charles R. Scriver 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 431 KB 👁 2 views

Phenylalanine hydroxylase (PAH) catalyzes the conversion of phenylalanine to tyrosine; its activity is the major determinant of phenylalanine disposal. Mutations in the corresponding human gene (PAH), which encodes the human hepatic PAH enzyme, result in hyperphenylalaninemia; the resulting phenotyp