Identifying Novel Mutations in Iranian Patients with LPS-responsive Beige-like Anchor Protein (LRBA) Deficiency
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DOI: 10.1080/08820139.2020.1770784
Abstract: ABSTRACT LPS-responsive beige-like anchor protein (LRBA) deficiency is a monogenic primary immunodeficiency characterized by a heterogeneous spectrum of clinical manifestations associated with immune dysregulation. In this study, we reported clinical, immunologic, and genetic evaluation of… read more here.
Keywords: beige like; lps responsive; responsive beige; like anchor ... See more keywords
Induction of beige‐like adipocyte markers and functions in 3T3‐L1 cells by Clk1 and PKCβII inhibitory molecules
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Cellular and Molecular Medicine"
DOI: 10.1111/jcmm.17345
Abstract: Excessive dietary intake of fat results in its storage in white adipose tissue (WAT). Energy expenditure through lipid oxidation occurs in brown adipose tissue (BAT). Certain WAT depots can undergo a change termed beiging where… read more here.
Keywords: inhibition; pgc1; clk1; clk1 pkc ... See more keywords
Loss-of-function of lipopolysaccharide-responsive beige-like anchor protein causes inflammatory bowel disease—a case report and literature review
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DOI: 10.21037/tp-2024-567
Abstract: Background Most cases of childhood inflammatory bowel disease (IBD) are polygenic in origin, although a subset of patients exhibits monogenic etiologies. Some studies have identified the lipopolysaccharide-responsive beige-like anchor protein (LRBA) gene as a susceptibility… read more here.
Keywords: disease; bowel disease; lipopolysaccharide responsive; beige like ... See more keywords
Acute Cervical Longitudinally Extensive Transverse Myelitis in a Child With Lipopolysaccharide-Responsive-Beige-Like-Anchor-Protein (LRBA) Deficiency: A New Complication of a Rare Disease
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DOI: 10.3389/fped.2020.580963
Abstract: Lipopolysaccharide responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency disorder (PID) that can cause a common variable immunodeficiency (CVID)-like disease. The typical features of the disease are autoimmunity, chronic diarrhea, and hypogammaglobulinemia. Neurological… read more here.
Keywords: beige like; responsive beige; lipopolysaccharide responsive; like anchor ... See more keywords
Role of Protein Kinase A Activation in the Immune System with an Emphasis on Lipopolysaccharide-Responsive and Beige-like Anchor Protein in B Cells
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24043098
Abstract: Cyclic AMP-dependent protein kinase A (PKA) is a ubiquitous enzymatic complex that is involved in a broad spectrum of intracellular receptor signaling. The activity of PKA depends on A-kinase anchoring proteins (AKAPs) that attach to… read more here.
Keywords: protein kinase; lipopolysaccharide responsive; beige like; responsive beige ... See more keywords