The cDNA and genomic sequence for bovine lysosomal α-mannosidase has been identified and the specific point mutations resulting in α-mannosidosis in cattle characterised. In Angus and related breeds, a T to C transition at position 961 as shown in Fig. 1 results in a Phe to Leu amino ...
Mannosidosis patients suffer from recurrent infection, especially in the first decade of life. In one single patient, impaired leukocyte chemotaxis and reduced phagocytosis were found [9]. Malm and co-workers compared the humoral and cellular immunological functioning in six patients to that of six...
The present invention relates to a process for purification of recombinant alpha-mannosidase, a process for production of alpha-mannosidase, a composition comprising alpha-mannosidase, use of the composition as a medicament, use as a medicament for the treatment of alpha-mannosidosis and a method ...
Alpha-Mannosidosis is a lysosomal storage disorder caused by deficient activity of the lysosomal alpha-mannosidase, commonly observed in Angus cattle and cats and occasionally in humans (Jolly and Walkley 1997; Rivero et al. 2001). The catabolism of glycoproteins by a-mannosidase is incomplete ...
the presence or absence of .alpha.-mannosidosis-causing mutations in the gene encoding bovine lysosomal .alpha.-mannosidase (LAMAN) and a method of detecting .alpha.-mannosidosis-causing mutations in cattle, comprising detecting the presence or absence of base transitions in the gene encoding ...
alpha-Mannosidosisalpha-MannosidaseDiagnosis, DifferentialProtein ConformationMutationGenetic CounselingPrognosisModels, Molecularα-Mannosidosis, Lysosomal α-D-Mannosidase Deficiency, α-Mannosidase B Deficiency. OMIM 248500.Hurler-like syndrome had been known for a number of years when the Swedish ...
A method for diagnosing or screening for bovine alpha-mannosidosis comprises detecting in nucleic acid samples from cattle the presence or absence of alpha-mannosidosis-causing mutations in the gene encoding bovine lysosomal alpha-mannosidase (LAMAN). A method of detecting alpha-mannosidosis-...
α -mannosidosisLysosomal (EC 3.2.1.24) is a major exoglycosidase in the glycoprotein degradation pathway. A deficiency of this enzyme causes the lysosomal storage disease, , which has been described in humans, cattle, domestic cats and guinea pigs. Recently, great progress has been made in ...
A method of detecting alpha-mannosidosis-causing mutations in cattle comprises detecting the presence or absence of base transitions in the gene encoding bovine LAMAN which are associated with the disease.HANNA * DZIEGLEWSKAPETER * HEALYOLE * TOLLERSRUD...
A method of detecting alpha-mannosidosis-causing mutations in cattle comprises detecting the presence or absence of base transitions in the gene encoding bovine LAMAN which are associated with the disease.NILSSEN, OIVINDTOLLERSRUD, OLE KRISTIAN...