Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation

Uchino, Yoshinori; Fukushige, Tomoko; Yotsumoto, Shinichi; Hashiguchi, Teruto; Taguchi, Hiroyasu; Suzuki, N.; Konohana, Izumi; Kanzaki, Tamotsu

doi:10.1046/j.1365-2133.2003.05365.x

Cited by 23 publications

(25 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Fibroblasts from skin biopsy samples from the patient and normal healthy unrelated controls were cultured and processed according to established tissue culture methods. 27 …”

Section: Light and Electron Microscopymentioning

confidence: 97%

“…The samples were processed according to standard methods for light microscopy and ultrastructural analysis. 27 Isolation of leukocytes and cell culture Leukocytes were isolated from whole blood containing ethylenediaminetetraacetic acid as an anticoagulant by dextran saline 29 and cell pellets were stored in À708C. Fibroblasts from skin biopsy samples from the patient and normal healthy unrelated controls were cultured and processed according to established tissue culture methods.…”

Section: Light and Electron Microscopymentioning

confidence: 99%

“…25,26 Subsequently, 11 mutations in the MANBA gene were reported in 7 families. 15,16,25,27,28 We report herein a newly identified case of human b-mannosidosis in a female patient of Arab ethnicity and describe a novel null mutation in exon 6 of the MANBA gene that is responsible for this patient's phenotype.…”

mentioning

confidence: 96%

See 2 more Smart Citations

Angiokeratoma corporis diffusum in human β-mannosidosis: Report of a new case and a novel mutation

Molho‐Pessach¹,

Bargal

Abramowitz³

et al. 2007

Journal of the American Academy of Dermatology

View full text Add to dashboard Cite

“…Fibroblasts from skin biopsy samples from the patient and normal healthy unrelated controls were cultured and processed according to established tissue culture methods. 27 …”

Section: Light and Electron Microscopymentioning

confidence: 97%

Section: Light and Electron Microscopymentioning

confidence: 99%

See 1 more Smart Citation

Angiokeratoma corporis diffusum in human β-mannosidosis: Report of a new case and a novel mutation

Molho‐Pessach¹,

Bargal

Abramowitz³

et al. 2007

Journal of the American Academy of Dermatology

View full text Add to dashboard Cite

“…Enzyme Assay β-mannosidase activity was determined as described [21]. Assay mixture contains 300 µL of 2 mM of p-nitrophenyl-β-D-mannopyranoside, 25 µL of protein samples in 0.1 M acetate buffer, pH 5.0, and incubated at 37 o C for 2 h. The reaction was stopped by adding 1.675 mL of 0.25 M NaOH.…”

Section: Extraction Of Lysosomesmentioning

confidence: 99%

“…In β-mannosidosis, the accumulation of undegraded di and trisaccharide, and oligosaccharide of mannosyl-N-linked glucosamine are found in fibroblast, leukocytes, brain, kidney, and liver [4,[14][15]. β-mannosidosis cases have been identified and characterized in goat [16], bovine [17,18], as well as in humans [19][20][21]. The disease is rare in human and is globally widespread [20,22,23].…”

Section: Introductionmentioning

confidence: 99%

Novel synthesis of mannosamine conjugated magnetic nanoparticles for purification and stabilization of human lysosomal β-mannosidase

Samra

Athar

2009

Biotechnol Bioproc E

View full text Add to dashboard Cite

Human β-mannosidase (MANB) was purified to homogeneity directly from lysosomes by using mannosamine conjugated magnetic (Fe 3 O 4 ) nanoparticles, DE-52 cellulose, and sephadex G-200 chromatography. Fe 3 O 4 nanoparticles were synthesized and utilized ammonia to attach the amino group on the nanoparticles. The particles were covalently attached with Dmannosamine by cross linker glutaraldehyde and confirmed by FTIR spectroscopy. In FTIR analysis, the peaks appeared at 2,356.6 cm −1 for −N = CH linkage and at 3,378.4 cm −1 , 3,664.9 cm −1 for −OH groups confirmed the conjugation of Dmannosamine with Fe 3 O 4 nanoparticles. Results showed a single band of 97 kDa of purified MANB in SDS-PAGE. The isoelectric point was 4.5 and the K m and Vã~ñ values were 2.51 mM and 0.315 μM/min/mg, respectively. The purification fold was 329 with 68% yield. The optimal activity was at pH 5.0 and 75% activity was stable in 20% glycerol at 4 o C. The enzyme activity was inhibited by Ni 2+ , Zn 2+ , Cd 2+ , Cu 2+ , Mo 2+ , Ag +1 , iodoacetate, SDS, DMF, DMSO, ethanol, and acetone; slightly reduced by Pb 2+ , Co 2+ , EDTA, DTT, and β-mercaptoethanol. The activity was not affected by Mg 2+ , Mn 2+ , Sn 2+ , Ca 2+ , Fe 3+ , PMSF, Triton X-100, D-mannosamine, D-mannose, D-mannitol, D-glucose, and D-fructose. The homogeneity of MANB enzyme was further confirmed by 2D-PAGE and immunoblot. This is the first novel report of conjugation of Dmannosamine with Fe 3 O 4 nanoparticles for purification of human MANB enzyme. © KSBB hÉóïçêÇëW=j~ååçë~ãáåÉI=ã~ÖåÉíáÅ=å~åçé~êíáÅäÉëI=cqfoI=ïÉëíÉêå=ÄäçíI=OaJm^db

show abstract

Atypical Gilles de la Tourette Syndrome With β-Mannosidase Deficiency

Sedel

Friderici²,

Nummy³

et al. 2006

Arch Neurol

View full text Add to dashboard Cite

Background: ␤-Mannosidosis is a rare inborn error of metabolism with various phenotypes, including mental retardation, behavioral problems, hearing loss, and recurrent airway infections in childhood. To our knowledge, there is no published description of Gilles de la Tourette syndrome in association with this enzymatic deficiency. Objective: To describe a unique case of Gilles de la Tourette syndrome associated with ␤-mannosidosis. Setting: University hospital. Patient: An 18-year-old man exhibited motor and vocal tics since childhood, attention-deficit/hyperactivity disorder, impulsivity, and aggressiveness compatible with Gilles de la Tourette syndrome. A screen for inborn errors of metabolism was made because of the atypical association with slight mental retardation and bilateral perceptive hypoacousia. Results: Urinary analysis showed disacchariduria, and leukocyte analysis revealed a profound deficit in ␤-mannosidase activity. Two novel mutations in the ␤-mannosidase gene were found: a new splice mutation in one allele, and a unique 10-base-pair insertion in the other. Conclusions: This case illustrates the phenotypic variability of inborn errors of metabolism in adults and demonstrates the need to screen inborn errors of metabolism in atypical Gilles de la Tourette syndrome.

show abstract

Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation

Abstract: To our knowledge, this is the first case of beta-mannosidosis reported in Japan and the second report in which a gene mutation is identified. The biological importance of beta-mannose moieties in glycoproteins in basal keratinocytes is suggested.

Cited by 23 publications

References 25 publications

Angiokeratoma corporis diffusum in human β-mannosidosis: Report of a new case and a novel mutation

Angiokeratoma corporis diffusum in human β-mannosidosis: Report of a new case and a novel mutation

Novel synthesis of mannosamine conjugated magnetic nanoparticles for purification and stabilization of human lysosomal β-mannosidase

Atypical Gilles de la Tourette Syndrome With β-Mannosidase Deficiency

Contact Info

Product

Resources

About