Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders

It is estimated that 0.5% of all mammalian proteins have a glycosylphosphatidylinositol (GPI)‐anchor. GPI‐anchored proteins (GPI‐APs) play key roles, particularly in embryogenesis, neurogenesis, immune response and signal transduction. Due to their involvement in many pathways and developmental even...

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Veröffentlicht in:	Clinical genetics 2019-01, Vol.95 (1), p.112-121
Hauptverfasser:	Bellai‐Dussault, Kara, Nguyen, Thi Tuyet Mai, Baratang, Nissan V., Jimenez‐Cruz, Daniel A., Campeau, Philippe M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - epidemiology Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology Alkaline phosphatase Deficiency diseases Embryogenesis Genetic disorders glycophosphatidylinositol Glycosylphosphatidylinositol Glycosylphosphatidylinositols - deficiency Glycosylphosphatidylinositols - genetics Glycosylphosphatidylinositols - metabolism GPI GPI-Linked Proteins - genetics GPI‐anchored proteins Humans Immune response Intellectual Disability - epidemiology Intellectual Disability - genetics Intellectual Disability - pathology Literature reviews Muscle Hypotonia - epidemiology Muscle Hypotonia - genetics Muscle Hypotonia - pathology Mutation Nails (Anatomy) Neurogenesis Phenotypes PIG Reviews Seizures Seizures - epidemiology Seizures - genetics Seizures - pathology Signal transduction Transduction
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