- Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta-mannosidase (MANBA) missense mutationsHilde Monica Frostad Riise Stensland
Department of Medical Genetics, University Hospital of Northern Norway, Tromsø, Norway
Mol Genet Metab 94:476-80. 2008..We propose that the milder phenotype described in some beta-mannosidosis patients with missense mutations in the MANBA gene is not due to residual beta-mannosidase activity, but rather caused by epigenetic and/or environmental factors...
- Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutationsHilde Monica Frostad Riise Stensland
Division of Child and Adolescent Health, Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway
Hum Mutat 33:511-20. 2012..The majority of the variants were inactive, however, ten showed MAN2B1 activity above background, and more detailed studies are necessary to further evaluate the pathogenicity of these variants...
- A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variantFrédérique Sabourdy
Laboratoire de Biochimie Maladies Métaboliques, Institut Fédératif de Biologie, CHU Purpan, Toulouse, France
BMC Med Genet 10:84. 2009..These are all null mutations or missense mutations that abolish beta-mannosidase activity. In this study, we characterized the molecular defect of a new case of beta-mannosidosis, presenting with a severe neurological disorder...