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Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study
TLDR
A high frequency of Fabry disease is shown in a cohort of patients with cryptogenic stroke, which corresponds to about 1.2% in young stroke patients, especially in those with the combination of infarction in the vertebrobasilar artery system and proteinuria. Expand
Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin.
TLDR
Limiting the biosynthesis of the substrate (GM2) for the defective enzyme (beta-hexosaminidase A) prevents GSL accumulation and the neuropathology associated with its lysosomal storage. Expand
Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.
TLDR
A patient with a mild form of congenital disorder of glycosylation type II (CDG-II) that is caused by a deficiency in the Cog1 subunit of the COG complex is described, with the proposed naming of this disorder CD-II/Cog1, or CDG- II caused by Cog 1 deficiency. Expand
Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1
TLDR
There was no correlation between genotype and phenotype, although siblings had similar phenotypes and three patients, including the one with the normal transferrin profile, did not have a deficiency of phosphomannomutase orosphomannose isomerase (CDGS 1b). Expand
Mammalian alpha-mannosidases--multiple forms but a common purpose?
TLDR
It is proposed that the ER/cytosolic mannosidase is involved in the degradation of dolichol intermediates that are not needed for protein glycosylation, whereas the soluble form of Man9-mannosidases is responsible for the degraded glycans on defective or malfolded proteins that are specifically retained and broken down in the ER. Expand
Anderson–Fabry disease: Clinical manifestations of disease in female heterozygotes
TLDR
It appears that Anderson–Fabry disease affects both hemizygotes and heterozyotes and therefore should be considered to be an X-linked dominant disease. Expand
Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3.
TLDR
In summary, alpha-Gal A antibodies frequently develop in male Fabry disease patients and interfere with urinary GL-3 excretion and infusion of a dose of 1.0mg/kg results in a more robust decline inGL-3, less impact, if any of antibodies, stable renal function and reduction of LVMass. Expand
A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation.
TLDR
A patient with a mild form of a congenital disorder of glycosylation type II (CDG-II) is described, which is caused by a homozygous nonsense mutation in the hCOG8 gene, resulting in a truncated Cog8 subunit lacking the 76 C-terminal amino acids. Expand
Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres
TLDR
Bone marrow transplantation was carried out on 38 patients with mucopolysaccharidosis type I over a period of 15 years, and most patients have shown an arrest or slowing down of psychomotor regression, however, dysostosis multiplex has progressed. Expand
Lysosomal metabolism of glycoproteins.
TLDR
The lysosomal catabolism of glycoproteins is part of the normal turnover of cellular constituents and the cellular homeostasis of glycosylation, and interaction between the lysOSome and proteasome is important for the regulation of the biosynthesis and distribution of N-linked glycoprotein. Expand
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