The hereditary stomatocytoses and allied disorders: congenital disorders of erythrocyte membrane permeability to Na and K

Stewart, Gordon W.; Turner, Edward J.

doi:10.1053/beha.1999.0049

Cited by 45 publications

(39 citation statements)

References 88 publications

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“…However, Stewart and Turner reported that stomatin knockout mice did not have hemolytic anemia, which may indicate that stomatin deficiency in OHSt is a secondary event and not the primary underlying molecular defect of DHSt (Stewart and Turner, 1999). In agreement with this, mutations in anion exchanger 1 (band 3) (Bruce et al, 2005), the putative ammonium transporter Rhesus-associated glycoprotein (RhAG) (Bruce, 2009), and GLUT1 (Flatt et al, 2011) have recently been implicated in OHSt.…”

Section: Hereditary Hemolytic Anemia: Understanding the Molecular Biomentioning

confidence: 99%

Red blood cell vesiculation in hereditary hemolytic anemia

et al. 2013

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Hereditary hemolytic anemia encompasses a heterogeneous group of anemias characterized by decreased red blood cell survival because of inherited membrane, enzyme, or hemoglobin disorders. Affected red blood cells are more fragile, less deformable, and more susceptible to shear stress and oxidative damage, and show increased vesiculation. Red blood cells, as essentially all cells, constitutively release phospholipid extracellular vesicles in vivo and in vitro in a process known as vesiculation. These extracellular vesicles comprise a heterogeneous group of vesicles of different sizes and intracellular origins. They are described in literature as exosomes if they originate from multi-vesicular bodies, or as microvesicles when formed by a one-step budding process directly from the plasma membrane. Extracellular vesicles contain a multitude of bioactive molecules that are implicated in intercellular communication and in different biological and pathophysiological processes. Mature red blood cells release in principle only microvesicles. In hereditary hemolytic anemias, the underlying molecular defect affects and determines red blood cell vesiculation, resulting in shedding microvesicles of different compositions and concentrations. Despite extensive research into red blood cell biochemistry and physiology, little is known about red cell deformability and vesiculation in hereditary hemolytic anemias, and the associated pathophysiological role is incompletely assessed. In this review, we discuss recent progress in understanding extracellular vesicles biology, with focus on red blood cell vesiculation. Also, we review recent scientific findings on the molecular defects of hereditary hemolytic anemias, and their correlation with red blood cell deformability and vesiculation. Integrating bio-analytical findings on abnormalities of red blood cells and their microvesicles will be critical for a better understanding of the pathophysiology of hereditary hemolytic anemias.

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Section: Hereditary Hemolytic Anemia: Understanding the Molecular Biomentioning

confidence: 99%

Red blood cell vesiculation in hereditary hemolytic anemia

et al. 2013

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“…Attention was drawn to the protein by its absence from the red cell membrane in the dominantly-inherited haemolytic anaemia, hereditary stomatocytosis, in which the red cells show a catastrophic leak to the univalent cations Na+ and K+ (Lock et al 1961;Lande et al 1982;Eber et al 1989;Stewart and Turner 1999;Stewart and Fricke 2003). However, the stomatin gene is not mutated in this condition, and this anaemia does not represent the phenotype of a human stomatin 'knock out' (Wang et al 1992.…”

Section: Introductionmentioning

confidence: 99%

Stomatin immunoreactivity in ciliated cells of the human airway epithelium

Fricke

Stewart

Treharne

et al. 2003

Anatomy and Embryology

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Stomatin is a widely distributed 32kD membrane protein of unknown function. In biochemical studies it is associated with cholesterol+sphingomyelin-rich 'rafts' in the cytomembrane. Genetic studies in C. elegans, supported by microscopic studies in mammalian tissue and co-expression studies in oocytes, suggest a functional link with the DEG/ENaC (degenerin/epithelial Na+ channel) superfamily of monovalent ion channels. Since ENaC channels play a prominent role in the physiology of the respiratory epithelium, we have studied the immunolocalization of stomatin in mature and developing human airway epithelium by means of Western blot analysis, immunocytochemistry, and immunoelectron microscopy. Stomatin immunoreactivity (stomatin-IR) was found in the ciliated cells of the conductive airway epithelium in a distinct distribution pattern with the strongest signal along the cilia. Immunogold labelling revealed immunogold particles at the basal bodies, along the cilia, and at the membrane of the microvilli. The presence of stomatin-IR paralleled the stages of ciliogenesis in airway development, and its appearance preceded the elongation of the axoneme and the cilial outgrowth. Due to its presence in the different cellular locations in the ciliated cell, we suggest that stomatin is involved in various cellular functions. From its ultrastructural position, stomatin could be a candidate for a membrane-associated mechanotransducer with a role in the control of ciliary motility. Stomatin as a raft protein might be a microtubule associated protein moving along the outer surface of the microtubules to its terminal site of action in the cilia. Stomatin-IR in microvilli supports the hypothesis of a co-localization with beta- and gamma- ENaC and, in conclusion, their potential functional interaction to control the composition of periciliary mucus electrolytes.

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“…2 Dehydrated hereditary stomatocytosis is the most common single variant (OMIM 603528). Despite the name, stomatocytes may be very scarce or even absent and the term "hereditary xerocytosis" is often used for this variant.…”

Section: Discussionmentioning

confidence: 99%