<i>PGAP3</i> Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early Development

<i>PGAP3</i> Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early Development

Recessive mutations in Post-GPI attachment to proteins 3 (<i>PGAP3</i>) cause the rare neurological disorder hyperphosphatasia with mental retardation syndrome 4 type (HPMRS4). Here, we report a novel homozygous nonsense mutation in <i>PGAP3</i> (c.265C>T-p.Gln89*), in a 3...

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Bibliographic Details
Main Authors: Sahar I. Da’as, Waleed Aamer, Waseem Hasan, Aljazi Al-Maraghi, Alya Al-Kurbi, Houda Kilani, Jehan AlRayahi, Khaled Zamel, Mitchell A. Stotland, Khalid A. Fakhro
Format: Article
Language:English
Published: MDPI AG 2020-07-01
Series:Cells
Subjects:
hyperphosphatasia mental retardation syndrome 4 (HPMRS4)
post-GPI attachment to proteins 3 (<i>PGAP3</i>)
neurological disorder
human disease model
zebrafish
neural tube defect
Online Access:https://www.mdpi.com/2073-4409/9/8/1782

Internet

https://www.mdpi.com/2073-4409/9/8/1782

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