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Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review [PDF]

open access: yesMolecular Genetics & Genomic Medicine
Background A rare autosomal recessive disorder known as hyperphosphatasia with impaired intellectual development syndrome (HPMRS), also referred to as Mabry syndrome, is caused by a deficiency in glycosylphosphatidylinositol (GPI).
Arash Salmaninejad   +10 more
doaj   +2 more sources

Dysfunctional decidual CD2+CD4+T cells regulated by Rev-erbα - GFPT1 - GPI anchored CD58 axis of decidual stromal cells underlies sleep disturbance induced recurrent pregnancy loss [PDF]

open access: yesFrontiers in Immunology
BackgroundThe multifactorial nature of recurrent pregnancy loss (RPL) requires a comprehensive understanding of its diverse risk factors, including sleep disturbance.
Mingke Qiu   +10 more
doaj   +2 more sources

Molecular Insights into Fungal Glycosylphosphatidylinositol Transamidase Complex [PDF]

open access: yesAdvanced Science
The glycosylphosphatidylinositol (GPI) biosynthesis pathway is critical for antifungal drug development. As a key component of this pathway, GPI transamidase (GPIT) catalyzes the attachment of GPI anchors to proteins, a process essential for fungal cell ...
Zhengkang Hua   +12 more
doaj   +2 more sources

GPIomics: global analysis of glycosylphosphatidylinositol‐anchored molecules of Trypanosoma cruzi

open access: yesMolecular Systems Biology, 2009
Glycosylphosphatidylinositol (GPI) anchoring is a common, relevant posttranslational modification of eukaryotic surface proteins. Here, we developed a fast, simple, and highly sensitive (high attomole‐low femtomole range) method that uses liquid ...
Ernesto S Nakayasu   +2 more
exaly   +2 more sources

Stage-Specific COPII-Mediated Cargo Selectivity in African Trypanosomes

open access: yesmSphere, 2022
A hallmark of eukaryotic cells is the ability to form a secretory pathway connecting many intracellular compartments. In the early secretory pathway, coated protein complex II (COPII)-coated vesicles mediate the anterograde transport of newly synthesized
Mohamed Sharif, James D. Bangs
doaj   +1 more source

Biosynthesis and biology of mammalian GPI-anchored proteins [PDF]

open access: yesOpen Biology, 2020
At least 150 human proteins are glycosylphosphatidylinositol-anchored proteins (GPI-APs). The protein moiety of GPI-APs lacking transmembrane domains is anchored to the plasma membrane with GPI covalently attached to the C-terminus.
Taroh Kinoshita
doaj   +1 more source

Glycosylphosphatidylinositol-Anchor Synthesis in Plants: A Glycobiology Perspective

open access: yesFrontiers in Plant Science, 2020
More than 200 diverse secretory proteins from Arabidopsis thaliana carry a glycosylphosphatidylinositol (GPI) lipid anchor covalently attached to their carboxyl-terminus.
Gernot Beihammer   +3 more
doaj   +1 more source

Turnover of Variant Surface Glycoprotein in Trypanosoma brucei Is a Bimodal Process

open access: yesmBio, 2021
African trypanosomes utilize glycosylphosphatidylinositol (GPI)-anchored variant surface glycoprotein (VSG) to evade the host immune system. VSG turnover is thought to be mediated via cleavage of the GPI anchor by endogenous GPI-specific phospholipase C (
Paige Garrison   +9 more
doaj   +1 more source

GPI-AP: Unraveling a New Class of Malignancy Mediators and Potential Immunotherapy Targets

open access: yesFrontiers in Oncology, 2020
With millions of cases diagnosed annually and high economic burden to cover expensive costs, cancer is one of the most difficult diseases to treat due to late diagnosis and severe adverse effects from conventional therapy.
Nada H. Hussein   +2 more
doaj   +1 more source

New Players in Neuronal Iron Homeostasis: Insights from CRISPRi Studies

open access: yesAntioxidants, 2022
Selective regional iron accumulation is a hallmark of several neurodegenerative diseases, including Alzheimer’s disease and Parkinson’s disease. The underlying mechanisms of neuronal iron dyshomeostasis have been studied, mainly in a gene-by-gene ...
Daniel A. Bórquez   +3 more
doaj   +1 more source

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