Acatalasia (Acatalasemia)

12/01/2008 - "Studies of residual catalase in Swiss, mouse and beagle dog acatalasemia showed that aberrant catalase protein degrades more quickly than normal catalase in cells. "
12/15/1980 - "These studies indicate that acatalasemia in mice is due to a structural gene mutation which leads to synthesis of structurally altered catalase subunits. "
04/01/1965 - "[Immunochemical study of erythrocyte catalase in the acatalasia hemolysate]."
03/08/2015 - "Acatalasemia refers to inherited deficiency of the catalase enzyme. "
06/10/2014 - "To confirm the diagnosis of acatalasemia, intron 4 of the catalase gene was amplified and sequenced. "

11/01/1985 - "Congenital acatalasemia: a study of neutrophil functions after provocation with hydrogen peroxide."
10/01/1998 - "This may be one of the reasons why acatalasemic mice suffer no health problems while Japanese acatalasemic patients suffer from Takahara disease when infected with hydrogen peroxide-generating bacteria."
07/01/2004 - "Methemoglobinemia from hydrogen peroxide in a patient with acatalasemia."
03/01/1972 - "Effects of local applications of microencapsulated catalase on the response of oral lesions to hydrogen peroxide in acatalasemia."
09/01/2009 - "Hydrogen peroxide is enzymatically processed by catalase, and catalase deficiency in blood is known as acatalasemia. "

01/01/1988 - "We conclude that Japanese-type acatalasemia in this study is resulted by a small mutation in the non-coding region of catalase gene which affects some step in the catalase mRNA metabolism."
12/01/2008 - "Japanese acatalasemia-I, the G to A transition at the fifth position of intron 4 of the catalase gene, limited the correct splicing of the mRNA and synthesized trace catalase with normal properties. "
01/01/1988 - "Diminished synthesis of catalase due to the decrease in catalase mRNA in Japanese-type acatalasemia."
09/25/1987 - "In order to determine the molecular basis for Csb acatalasemia, we have isolated a cDNA clone for murine catalase and have used this probe to analyze Csa and Csb genomic DNA and catalase mRNA. "

01/01/1983 - "Polyacrylamide gradient gel electrophoretic studies of residual catalase in acatalasemia."

05/01/1982 - "The results are consistent with the increased oxidation and uptake of mercury in the liver by acatalasemia mice."
03/15/1978 - "Mercury uptake by acatalasemia mice and their erythrocytes, lung and liver homogenates."
01/01/1981 - "Organ distribution of mercury vapor inhaled by acatalasemia and hypocatalasemia mice."
01/01/1983 - "The oxidation of metallic mercury by catalase in relation to acatalasemia."
01/01/1983 - "The authors described the oxidation of metallic mercury by human blood cells having different catalase activities, hypocatalasemia and acatalasemia, with or without hydrogen peroxide. "

04/01/1983 - "ELC was normal in the leukocytes of two subjects homozygous for Swiss-type acatalasemia, and aminotriazole enhanced ELC in these cells to an extent not significantly different from that observed in normal cells. "
05/01/1975 - "The kinetics of catalase synthesis and degradation were determined in acatalasemia and normal mouse livers during recovery of catalase activity after inhibition with aminotriazole. "
05/01/1975 - "Recovery of catalase activity after inhibition with aminotriazole in acatalasemia mice."
04/01/1977 - "That the oxidation process is, at least in part, catalyzed by the enzyme, catalase, explains the effects of ethanol, aminotriazole and the state of acatalasemia on the metabolism of inhaled vapor in man and animals. "

06/10/2014 - "Acatalasemia is a rare genetic catalase deficiency that is inherited as an autosomal recessive trait. "
03/01/1961 - "Immunologic evidence of catalase deficiency in human hereditary acatalasemia."
09/01/2009 - "Hydrogen peroxide is enzymatically processed by catalase, and catalase deficiency in blood is known as acatalasemia. "

08/01/1999 - "Occasionally the defect manifests as progressive oral gangrene or Takahara's, disease."
08/01/1954 - "Progressive oral gangrene due to acatalasemia (colored motion picture)."
01/01/1954 - "Progressive oral gangrene due to acatalasemia; colored motion picture."

12/31/1990 - "In order to pinpoint the molecular lesion that imparts the acatalasemia phenotype in Csb mice we have utilized the polymerase chain reaction technique to isolate catalase cDNA clones from control and Csb mouse strains. "
09/25/1987 - "In order to determine the molecular basis for Csb acatalasemia, we have isolated a cDNA clone for murine catalase and have used this probe to analyze Csa and Csb genomic DNA and catalase mRNA. "

12/01/2008 - "In the Japanese acatalasemia II and the type A and B of Hungarian acatalasemia, the deletion or insertion of nucleotides was observed in the coding regions, and the frame shift altered downstream amino acid sequences and formed truncated proteins. "
03/01/2001 - "Differences between the deficiencies reported from Hungary and the previously reported Swiss acatalasemia were characterized using biochemical analysis of the catalase proteins. "

01/01/2008 - "Acatalasemia, therefore, exacerbates oxidant tissue injury and induces the peritoneum to develop irreversible fibrosis which is the most important complication of peritoneal dialysis. "