Associated Papers
A new view of missense mutations in α-mannosidosis using molecular dynamics conformational ensembles.
Mandl Š et al.
Protein Science : a Publication of the Protein Society, 2025
Digging out the Molecular Connections between the Catalytic Mechanism of Human Lysosomal α-Mannosidase and Its Pathophysiology.
Di Geronimo B et al.
Journal of Chemical Information and Modeling, 2025
Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis.
Hashmi JA et al.
Frontiers in Genetics, 2024
Carrier frequency and incidence of alpha-mannosidosis: population database-based study-focus on the East Asian and Korean population.
Park JE et al.
Frontiers in Genetics, 2023
Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment.
Mkaouar R et al.
Plos One, 2021
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.
Borgwardt L et al.
Orphanet Journal of Rare Diseases, 2015
Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations.
Riise Stensland HM et al.
Human Mutation, 2012
Molecular and cellular characterization of novel {alpha}-mannosidosis mutations.
Kuokkanen E et al.
Human Molecular Genetics, 2011
The structure of bovine lysosomal alpha-mannosidase suggests a novel mechanism for low-pH activation.
Heikinheimo P et al.
Journal of Molecular Biology, 2003
alpha-Mannosidosis in the guinea pig: cloning of the lysosomal alpha-mannosidase cDNA and identification of a missense mutation causing alpha-mannosidosis.
Berg T et al.
Biochimica Et Biophysica Acta, 2002
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