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
39976451 (PubMed )
Supplement: ci4c02229_si_001.pdf
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
Lysosomal alpha-mannosidase and alpha-mannosidosis.
Paciotti S et al.
Frontiers in Bioscience (landmark Edition), 2017
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
A multi-species comparative structural bioinformatics analysis of inherited mutations in alpha-D-mannosidase reveals strong genotype-phenotype correlation.
Khan JM et al.
Bmc Genomics, 2009
Funtional characterization of four novel MAN2B1 mutations causing juvenile onset alpha-mannosidosis.
Pittis MG et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2007
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