Scientific Commons: J. Palek

Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis.

Jarolim, P, Palek, J, Amato, D, Hassan, K, Sapak, P, Nurse, G T, ...

Southeast Asian ovalocytosis (SAO) is a hereditary condition that is widespread in parts of Southeast Asia. The ovalocytic erythrocytes are rigid and resistant to invasion by various malarial...

cDNA sequence for human erythrocyte ankyrin.

Lambert, S, Yu, H, Prchal, J T, Lawler, J, Ruff, P, Speicher, D, ...

The cDNA for human erythrocyte ankyrin has been isolated from a series of overlapping clones obtained from a reticulocyte cDNA library. The composite cDNA sequence has a large open reading frame of...

Molecular basis of spectrin deficiency in beta spectrin Durham. A deletion within beta spectrin adjacent to the ankyrin-binding site precludes spectrin attachment to the membrane in hereditary spherocytosis.

Hassoun, H, Vassiliadis, J N, Murray, J, Yi, S J, Hanspal, M, Ware, R E, ...

We describe a spectrin variant characterized by a truncated beta chain and associated with hereditary spherocytosis. The clinical phenotype consists of a moderate hemolytic anemia with striking...

Four different mutations in codon 28 of alpha spectrin are associated with structurally and functionally abnormal spectrin alpha I/74 in hereditary elliptocytosis.

Coetzer, T L, Sahr, K, Prchal, J, Blacklock, H, Peterson, L, Koler, R, ...

Hereditary elliptocytosis (HE) Sp alpha I/74 is a disorder associated with defective spectrin (Sp) heterodimer self-association and an abnormal tryptic cleavage of the 80-kD alpha I domain of Sp...

A novel mobile element inserted in the alpha spectrin gene: spectrin dayton. A truncated alpha spectrin associated with hereditary elliptocytosis.

Hassoun, H, Coetzer, T L, Vassiliadis, J N, Sahr, K E, Maalouf, G J, Saad, S T, ...

Nonviral retrotransposons, retropseudogenes, and short interspersed nuclear elements (SINEs) are mobile DNA segments capable of transposition to new genomic locations, where they may alter gene...

Differential control of band 3 lateral and rotational mobility in intact red cells.

Corbett, J D, Agre, P, Palek, J, Golan, D E

Measurements of integral membrane protein lateral mobility and rotational mobility have been separately used to investigate dynamic protein--protein and protein-lipid interactions that underlie...

Isolation and characterization of cDNA clones for human erythrocyte beta-spectrin.

Prchal, J T, Morley, B J, Yoon, S H, Coetzer, T L, Palek, J, Conboy, J G, ...

Spectrin is an important structural component of the membrane skeleton that underlies and supports the erythrocyte plasma membrane. It is composed of nonidentical alpha (Mr 240,000) and beta (Mr...

Defective spectrin dimer-dimer association with hereditary elliptocytosis.

Liu, S C, Palek, J, Prchal, J T

We examined erythrocytes from 18 patients with hereditary elliptocytosis. Spectrin from eight patients (referred to as type 1) was defective in dimer-dimer association as demonstrated in two ways....

Altered spectrin dimer-dimer association and instability of erythrocyte membrane skeletons in hereditary pyropoikilocytosis.

Liu, S C, Palek, J, Prchal, J, Castleberry, R P

Hereditary pyropoikilocytosis (HPP) is a hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of erythrocytes. We have investigated the...

A molecular defect of spectrin in a subset of patients with hereditary elliptocytosis. Alterations in the alpha-subunit domain involved in spectrin self-association.

Lawler, J, Liu, S C, Palek, J, Prchal, J

Hereditary elliptocytosis (HE) is a clinically and biochemically heterogenous group of diseases characterized by elliptically shaped erythrocytes and an autosomal dominant mode of inheritance....

A nonsense mutation 1669Glu-->Ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis.

Jarolim, P, Rubin, H L, Brabec, V, Palek, J

We describe a nonsense mutation in the regulatory domain of erythroid ankyrin associated with autosomal dominant hereditary spherocytosis with a selective deficiency of the ankyrin isoform 2.1 (55%...

A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin.

Gallagher, P G, Tse, W T, Coetzer, T, Lecomte, M C, Garbarz, M, Zarkowsky, H S, ...

We studied nine individuals from five unrelated families with alpha I/46-50a hereditary elliptocytosis (HE) or hereditary pyropoikilocytosis (HPP), including one of the original HHP probands first...

Red cell membrane remodeling in sickle cell anemia. Sequestration of membrane lipids and proteins in Heinz bodies.

Liu, S C, Yi, S J, Mehta, J R, Nichols, P E, Ballas, S K, Yacono, P W, ...

In red cells from patients with sickle cell anemia, hemoglobin S denatures and forms Heinz bodies. Binding of Heinz bodies to the inner surface of the sickle cell membrane promotes clustering and...

Combination of two mutant alpha spectrin alleles underlies a severe spherocytic hemolytic anemia.

Wichterle, H, Hanspal, M, Palek, J, Jarolim, P

We studied a patient with a severe spherocytic hemolytic anemia without family history of spherocytosis. Analysis of patient's erythrocyte membrane proteins revealed spectrin deficiency and a...