Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.

scientific article published in March 1994

Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes. is …
instance of (P31):
scholarly articleQ13442814

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P932PMC publication ID1918135
P698PubMed publication ID8116615

P2093author name stringvon Figura K
Peters C
Hopwood JJ
Brooks DA
Arlt G
Isbrandt D
P2860cites workProtein measurement with the Folin phenol reagentQ20900776
Phylogenetic conservation of arylsulfatases. cDNA cloning and expression of human arylsulfatase BQ24300265
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase BQ24338264
Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNAQ24556599
Isolation of biologically active ribonucleic acid from sources enriched in ribonucleaseQ26778460
Transformation of mammalian cells to antibiotic resistance with a bacterial gene under control of the SV40 early region promoterQ29614259
Human arylsulfatase B: MOPAC cloning, nucleotide sequence of a full-length cDNA, and regions of amino acid identity with arylsulfatases A and C.Q33493392
Vgr-1, a mammalian gene related to Xenopus Vg-1, is a member of the transforming growth factor beta gene superfamilyQ33862554
Transfer of purified herpes virus thymidine kinase gene to cultured mouse cellsQ34017706
Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneityQ35195569
A common polymorphism in the human arylsulfatase B (ARSB) gene at 5q13-q14Q35775732
Inhibition of restriction endonuclease Nci I cleavage by phosphorothioate groups and its application to oligonucleotide-directed mutagenesisQ36145462
Structure of the Human Arylsulfatase B GeneQ36696445
Juvenile and adult metachromatic leukodystrophy: partial restoration of arylsulfatase A (cerebroside sulfatase) activity by inhibitors of thiol proteinasesQ37690419
The early diagnosis of Maroteaux-Lamy syndrome with confirmation of arylsulphatase deficiencyQ39823258
Human N-acetylgalactosamine-4-sulphatase: protein maturation and isolation of genomic clones.Q42624750
Vectors for efficient expression in mammalian fibroblastoid, myeloid and lymphoid cells via transfection or infection.Q53520370
Biosynthesis and maturation of arylsulfatase B in normal and mutant cultured human fibroblasts.Q54486137
An N-acetylgalactosamine-4-sulfatase mutation (delta G238) results in a severe Maroteaux-Lamy phenotypeQ67482106
Maroteaux-Lamy disease (mucopolysaccharidosis VI), subtype A: deficiency of a N-acetylgalactosamine-4-sulfataseQ68354874
Deficiency of chondroitin sulfate N-acetylgalactosamine 4-sulfate sulfatase in Maroteaux-Lamy syndromeQ68364181
The sulphatase of ox liver. XI. The isoelectric focussing of a purified preparation of sulphatase BQ72147850
P433issue3
P407language of work or nameEnglishQ1860
P921main subjectmucopolysaccharidosis VIQ576109
P304page(s)454-463
P577publication date1994-03-01
P1433published inAmerican Journal of Human GeneticsQ4744249
P1476titleMucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes
P478volume54

Reverse relations

cites work (P2860)
Q37357839Arylsulfatase B activities and glycosaminoglycan levels in retrovirally transduced mucopolysaccharidosis type VI cells. Prospects for gene therapy
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Q47990521Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series
Q50289077Defective ARSB does not hydrolyse C4S/C6S chains
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Q36253221Diagnostic and treatment strategies in mucopolysaccharidosis VI.
Q43071668Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis
Q41483103Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
Q37154973Haploidentical stem cell transplantation in two children with mucopolysaccharidosis VI: clinical and biochemical outcome
Q36777136Identification of a novel arylsulfatase B gene mutation in three unrelated Iranian mucopolysaccharidosis type-VI patients with different phenotype severity
Q35882767Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients
Q36791739Impaired osteoclastic bone resorption leads to osteopetrosis in cathepsin-K-deficient mice
Q28295485Mice deficient for the lysosomal proteinase cathepsin D exhibit progressive atrophy of the intestinal mucosa and profound destruction of lymphoid cells
Q34422329Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene
Q36521405Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome).
Q33863356Mucopolysaccharidosis VI.
Q54620854Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients.
Q45909286Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI.
Q35199296Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial.
Q28585358Role of LAMP-2 in lysosome biogenesis and autophagy
Q40735691Role of cathepsin B in intracellular trypsinogen activation and the onset of acute pancreatitis
Q37396626Targeted disruption of the arylsulfatase B gene results in mice resembling the phenotype of mucopolysaccharidosis VI
Q30418311Two site-directed mutations abrogate enzyme activity but have different effects on the conformation and cellular content of the N-acetylgalactosamine 4-sulphatase protein