Erythrocyte anion transporter and antibrain immunoreactivity in chorea-acanthocytosis. A contribution to etiology, genetics, and diagnosis

Bosman, G.J.C.G.M.; Bartholomeus, I.G.P.; Grip, W.J. de; Horstink, M.W.I.M.

doi:10.1016/0361-9230(94)90078-7

Cited by 16 publications

(7 citation statements)

References 21 publications

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“…For example, the presence of the active form of the protein kinase Lyn in the membrane fractions of acanthocytes confirms and expands the role of reversible phosphorylation in the interaction between integral membrane and cytoskeleton proteins, as had been indicated by phosphoproteomic data [5,6]. Classical analysis using membrane protein staining and immunochemical methods could reveal only subtle changes in band 3 conformation in these cells [7]. The use of semi-quantitative, comparative proteomics, however, revealed a cell shape-associated increase in the association of stomatin, proteins of the small G protein family, and the ankyrin complex with the lipid bilayer [4].…”

Section: The Red Blood Cell Membranementioning

confidence: 61%

The Proteome of the Red Blood Cell: An Auspicious Source of New Insights into Membrane-Centered Regulation of Homeostasis

Bosman

2016

Proteomes

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During the past decade, the hand-in-hand development of biotechnology and bioinformatics has enabled a view of the function of the red blood cell that surpasses the supply of oxygen and removal of carbon dioxide. Comparative proteomic inventories have yielded new clues to the processes that regulate membrane–cytoskeleton interactions in health and disease, and to the ways by which red blood cells communicate with their environment. In addition, proteomic data have revealed the possibility that many, hitherto unsuspected, metabolic processes are active in the red blood cell cytoplasm. Recent metabolomic studies have confirmed and expanded this notion. Taken together, the presently available data point towards the red blood cell membrane as the hub at which all regulatory processes come together. Thus, alterations in the association of regulatory proteins with the cell membrane may be a sine qua non for the functional relevance of any postulated molecular mechanism. From this perspective, comparative proteomics centered on the red blood cell membrane constitute a powerful tool for the identification and elucidation of the physiologically and pathologically relevant pathways that regulate red blood cell homeostasis. Additionally, this perspective provides a focus for the interpretation of metabolomic studies, especially in the development of biomarkers in the blood.

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Section: The Red Blood Cell Membranementioning

confidence: 61%

The Proteome of the Red Blood Cell: An Auspicious Source of New Insights into Membrane-Centered Regulation of Homeostasis

Bosman

2016

Proteomes

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“…Most patients have elevated serum CK levels without any clear explanation. Less commonly, LDH, AST, and ALT serum levels may be elevated (4)(5)(6). Like this patient, MR imaging may show atrophy of the caudate head and dilatation of the anterior horns of the lateral ventricles.…”

Section: Discussionmentioning

confidence: 81%

“…The neuropsychiatric symptoms may present before the movement disorder (2,(4)(5)(6). Impaired memory and executive functioning are common but not invariable.…”

Section: Discussionmentioning

confidence: 99%

Neuroacanthocytosis in Two Brothers: An Ultra-rare Cause of Movement Disorder

Ghabeli-Juibary

Rezaeitalab

2016

Caspian.J.Neurol.Sci

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“…Alternatively, in erythrocytes from ChAc patients, fast degradation of band 3, ankyrin and band 4.2 has been described (Asano et al, 1985). In a different study of ChAc red cells, band 3 also showed increased fragmentation, while the patient's serum contained an anti-brain immunoreactant (Bosman et al, 1994). Red cell protein phosphorylation and dephosphorylation is an important regulatory process for the homeostasis of red cell volume and shape (Pantaleo et al, 2010; De Franceschi et al, 2008).…”

Section: Neuroacanthocytosismentioning

confidence: 93%

Brain, blood, and iron: Perspectives on the roles of erythrocytes and iron in neurodegeneration

Prohaska¹,

Sibon²,

Rudnicki³

et al. 2012

Neurobiology of Disease

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Erythrocyte anion transporter and antibrain immunoreactivity in chorea-acanthocytosis. A contribution to etiology, genetics, and diagnosis

Cited by 16 publications

References 21 publications

The Proteome of the Red Blood Cell: An Auspicious Source of New Insights into Membrane-Centered Regulation of Homeostasis

The Proteome of the Red Blood Cell: An Auspicious Source of New Insights into Membrane-Centered Regulation of Homeostasis

Neuroacanthocytosis in Two Brothers: An Ultra-rare Cause of Movement Disorder

Brain, blood, and iron: Perspectives on the roles of erythrocytes and iron in neurodegeneration

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