Trafficking and folding defects in hereditary spherocytosis mutants of the human red cell anion exchanger.
about
Interaction of integrin-linked kinase with the kidney chloride/bicarbonate exchanger, kAE1A substrate access tunnel in the cytosolic domain is not an essential feature of the solute carrier 4 (SLC4) family of bicarbonate transportersDivergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitroNovel topology in C-terminal region of the human plasma membrane anion exchanger, AE1.Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis.Structural and functional characterization of the C-terminal transmembrane region of NBCe1-A.The cytoskeletal binding domain of band 3 is required for multiprotein complex formation and retention during erythropoiesis.Topology of NBCe1 protein transmembrane segment 1 and structural effect of proximal renal tubular acidosis (pRTA) S427L mutation.Molecular mechanisms of autosomal dominant and recessive distal renal tubular acidosis caused by SLC4A1 (AE1) mutations.Trafficking defects of a novel autosomal recessive distal renal tubular acidosis mutant (S773P) of the human kidney anion exchanger (kAE1).Interaction of anion exchanger 1 and glycophorin A in human erythroleukaemic K562 cells.Impaired trafficking and intracellular retention of mutant kidney anion exchanger 1 proteins (G701D and A858D) associated with distal renal tubular acidosis.Band 3 Edmonton I, a novel mutant of the anion exchanger 1 causing spherocytosis and distal renal tubular acidosis.Expression and interaction of two compound heterozygous distal renal tubular acidosis mutants of kidney anion exchanger 1 in epithelial cells.The human NBCe1-A mutant R881C, associated with proximal renal tubular acidosis, retains function but is mistargeted in polarized renal epithelia.Trafficking defects of the Southeast Asian ovalocytosis deletion mutant of anion exchanger 1 membrane proteins.Palmitoylation is not required for trafficking of human anion exchanger 1 to the cell surface.Traffic jams II: an update of diseases of intracellular transport.Impaired trafficking of human kidney anion exchanger (kAE1) caused by hetero-oligomer formation with a truncated mutant associated with distal renal tubular acidosis.Impaired trafficking of distal renal tubular acidosis mutants of the human kidney anion exchanger kAE1.Loss of specific chaperones involved in membrane glycoprotein biosynthesis during the maturation of human erythroid progenitor cells.Carboxyl-terminal truncations of human anion exchanger impair its trafficking to the plasma membrane.Band 3Tambaú: a de novo mutation in the AE1 gene associated with hereditary spherocytosis. Implications for anion exchange and insertion into the red blood cell membrane.Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis.A Ser725Arg mutation in Band 3 abolishes transport function and leads to anemia and renal tubular acidosis.
P2860
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P2860
Trafficking and folding defects in hereditary spherocytosis mutants of the human red cell anion exchanger.
description
2000 nî lūn-bûn
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2000年の論文
@ja
2000年学术文章
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2000年学术文章
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2000年学术文章
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2000年学术文章
@zh-my
2000年学术文章
@zh-sg
2000年學術文章
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2000年學術文章
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2000年學術文章
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name
Trafficking and folding defect ...... uman red cell anion exchanger.
@en
type
label
Trafficking and folding defect ...... uman red cell anion exchanger.
@en
prefLabel
Trafficking and folding defect ...... uman red cell anion exchanger.
@en
P2860
P1433
P1476
Trafficking and folding defect ...... uman red cell anion exchanger.
@en
P2093
Reithmeier RA
P2860
P304
P356
10.1034/J.1600-0854.2000.011208.X
P577
2000-12-01T00:00:00Z