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
Delayed diagnosis and clinical course of alpha-mannosidosis: A retrospective study of 25 patients with varying severity.
Nurse JH et al.
Genetics in Medicine Open, 2025
Lysosomal alpha-mannosidase and alpha-mannosidosis.
Paciotti S et al.
Frontiers in Bioscience (landmark Edition), 2017
Chronic enzyme replacement therapy ameliorates neuropathology in alpha-mannosidosis mice.
Damme M et al.
Annals of Clinical and Translational Neurology, 2015
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
Intracellular transport of human lysosomal alpha-mannosidase and alpha-mannosidosis-related mutants.
Hansen G et al.
The Biochemical Journal, 2004
Spectrum of mutations in alpha-mannosidosis.
Berg T et al.
American Journal of Human Genetics, 1999
Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis.
Gotoda Y et al.
American Journal of Human Genetics, 1998
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