Mechanism for Release of Alkaline Phosphatase Caused by Glycosylphosphatidylinositol Deficiency in Patients with Hyperphosphatasia Mental Retardation Syndrome-Reference-Cited by-同舟云学术

Mechanism for Release of Alkaline Phosphatase Caused by Glycosylphosphatidylinositol Deficiency in Patients with Hyperphosphatasia Mental Retardation Syndrome

Published:2012-02 Issue:9 Volume:287 Page:6318-6325
ISSN:0021-9258
Container-title:Journal of Biological Chemistry
language:en
Short-container-title:Journal of Biological Chemistry

Author:

Murakami Yoshiko,Kanzawa Noriyuki,Saito Kazunobu,Krawitz Peter M.,Mundlos Stefan,Robinson Peter N.,Karadimitris Anastasios,Maeda Yusuke,Kinoshita Taroh

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry

Reference20 articles.

1. Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome;Krawitz;Nat. Genet.,2010

2. PIG-V involved in transferring the second mannose in glycosylphosphatidylinositol;Kang;J. Biol. Chem.,2005

3. Hyperplasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome;Thompson;Am. J. Med. Genet. A,2010

4. PIG-S and PIG-T, essential for GPI anchor attachment to proteins, form a complex with GAA1 and GPI8;Ohishi;EMBO J.,2001

5. Human PIG-U and yeast Cdc91p are the fifth subunit of GPI transamidase that attaches GPI anchors to proteins;Hong;Mol. Biol. Cell,2003

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