Article
Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome.
American journal of human genetics - 2 Aug 2018
Breuss Martin W, Nguyen An, Song Qiong, Nguyen Thai, Stanley Valentina, James Kiely N, Musaev Damir, Chai Guoliang, Wirth Sara A, Anzenberg Paula, George Renee D, Johansen Anide, Ali Shaila, Zia-Ur-Rehman Muhammad, Sultan Tipu, Zaki Maha S, Gleeson Joseph G
Abstract excerpt
The dynamic shape of the endoplasmic reticulum (ER) is a reflection of its wide variety of critical cell biological functions. Consequently, perturbation of ER-shaping proteins can cause a range of human phenotypes. Here, we describe three affected children (from two consanguineous families) who carry homozygous loss-of-function mutations in LNPK (previously known as KIAA1715); this gene encodes lunapark, which...
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