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Ana Marcão
Instituto de Biologia Molecular e Celular
AlleleMetachromatic leukodystrophyArylsulfatase AGeneticsBiology
9Publications
9H-index
190Citations
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Publications 9
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In this multicentre study, we examined the prevalence of two mutations in the arylsulfatase A (ARSA) gene, i.e., c.459 + 1G > A and p.P426L, in 384 unrelated European patients presenting with diVerent types of metachromatic leukodystrophy (MLD). In total, c.459 + 1G > A was found 194 times among the 768 investigated ARSA alleles (25%), whereas p.P426L was identiWed 143 times (18.6%). Thus, these two mutations accounted for 43.8% of investigated MLD alleles. Mutation c.459 + 1G > A was most frequ...
17 CitationsSource
#1Peter Poeppel (University of Bonn)H-Index: 3
#2Matthias Habetha (CAU: University of Kiel)H-Index: 3
Last. Volkmar Gieselmann (University of Bonn)H-Index: 44
view all 6 authors...
Metachromatic leukodystrophy is a lysosomal storage disorder caused by a deficiency of arylsulfatase A (ASA). Biosynthesis studies of ASA with various structure-sensitive monoclonal antibodies reveal that some epitopes of the enzyme form within the first minutes of biosynthesis whereas other epitopes form later, between 10 and 25 min. When we investigated 12 various ASAs, with amino acid substitutions according to the missense mutations found in metachromatic leukodystrophy patients, immunopreci...
22 CitationsSource
#1Ana MarcãoH-Index: 9
#2Roland WiestH-Index: 37
Last. Volkmar GieselmannH-Index: 44
view all 9 authors...
Background Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by the deficiency of arylsulfatase A (ARSA). Clinically, the disease is heterogeneous with respect to the age of onset, affection of peripheral and central nervous systems, and progression. Objectives To analyze mutations in the ARSA gene of a patient with adult-onset MLD with no signs of peripheral polyneuropathy and to emphasize the clinical, neuroradiologic, neuropathologic, and genetic features of the disease...
19 CitationsSource
#1Ana Marcão (IBMC: Instituto de Biologia Molecular e Celular)H-Index: 9
#2Jorge E. Azevedo (IBMC: Instituto de Biologia Molecular e Celular)H-Index: 30
Last. M.C. Sá Miranda (IBMC: Instituto de Biologia Molecular e Celular)H-Index: 14
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Abstract Arylsulfatase A (ARSA) is a lysosomal enzyme implicated in most cases of metachromatic leukodystrophy (MLD). The quaternary structure of ARSA is pH-dependent: at neutral pH, ARSA is a homodimeric protein; at lysosomal (acidic) pH, ARSA is homo-octameric. This dimer–octamer transition seems to be of major importance for the stability of the enzyme in the lysosomal milieu. Sedimentation analysis was used to study the oligomerization capacity of C300F and P425T-substituted ARSA, two MLD-as...
9 CitationsSource
#1Ana Marcão (IBMC: Instituto de Biologia Molecular e Celular)H-Index: 9
#2Heidi Simonis (University of Bonn)H-Index: 1
Last. Volkmar Gieselmann (University of Bonn)H-Index: 44
view all 5 authors...
Metachromatic leukodystrophy (OMIM 250100) is a lysosomal storage disease caused by the deficiency of arylsulfatase A (ARSA, EC 3.1.6.8). This disease affects mainly the nervous system, because patients cannot degrade 3-O-sulfo-galactosylceramide (sulfatide), a major myelin lipid. Here we describe the characterization of the biochemical effects of two arylsulfatase A missense mutations, P425T and C300F. Transfection experiments demonstrate the expression of residual ARSA enzyme activity for P425...
9 CitationsSource
#1Isaura Ribeiro (University of Porto)H-Index: 4
#2Ana Marcão (University of Porto)H-Index: 9
Last. Gilles Millat (French Institute of Health and Medical Research)H-Index: 16
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Niemann-Pick type C disease (NPC) is a rare neurodegenerative disorder characterised by lysosomal/late endosomal accumulation of endocytosed unesterified cholesterol and delayed induction of cholesterol homeostatic reactions. The large majority of mutations in the NPC1 gene described thus far have been associated with severe cellular cholesterol trafficking impairment (classic biochemical phenotype, present in about 85% of NPC patients). In our population of 13 unrelated NP-C1 patients, among wh...
70 CitationsSource
#1Olga AmaralH-Index: 4
#2Ana Marcão (IBMC: Instituto de Biologia Molecular e Celular)H-Index: 9
Last. Marie E. Grace (ISMMS: Icahn School of Medicine at Mount Sinai)H-Index: 17
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Type 1 Gaucher disease (GD), the most prevalent lysosomal storage disease, results from the deficient activity of acid ‚-glucosidase. Molecular analysis of 12 unrelated Portuguese patients with type 1 GD identified three novel acid ‚-glucosidase mutations (F109V, W184R and R395P), as well as three previously reported, but uncharacterized, lesions (R359Q, G377S and N396T). The type 1 probands were either heteroallelic for the well-characterized common lesion, N370S, and the F109V, W184R, R359Q or...
25 CitationsSource
#1Olga AmaralH-Index: 9
#2Lúcia LacerdaH-Index: 12
Last. M.C. Sá MirandaH-Index: 14
view all 6 authors...
10 CitationsSource
#1Olga AmaralH-Index: 9
#2Ana MarcãoH-Index: 9
Last. M.C. Sá MirandaH-Index: 14
view all 5 authors...
Abstract ABSTRACT: A new polymorphism, in intron 7 of glucocerebrosidase gene, has been identified in Gaucher Disease patients. It seems to appear only in Pv1.1 - alleles bearing the N370S mutation. This new sub-haplotype was only identified in Portuguese patients, of origins spanning all of the Portuguese continental territory. This finding indicates that, in the Portuguese, mutation N370S has existed in the context of two slightly different haplotypes and thus must be relatively ancient.
9 CitationsSource
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