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
α-mannosidosis diagnosis in Brazilian patients with MPS-like symptoms.
Marins M et al.
Orphanet Journal of Rare Diseases, 2024
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
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
34614013 (PubMed )
Supplement: pone.0258202.s002.xlsx › Feuil1
A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.
Sher M et al.
The International Journal of Neuroscience, 2019
30892110 (PubMed )
Supplement: supplement_1.xlsx › _Variants_305__Sequence_Ontolo
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
Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis.
Sbaragli M et al.
Human Mutation, 2005
Characterization of the human MANB gene encoding lysosomal alpha-D-mannosidase.
Wakamatsu N et al.
Gene, 1997
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