13 documents found, page 1 of 2
Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Pati...
Matos, L.; Duarte, A.; Ribeiro, D.; Chaves, J.; Amaral, O.; Alves, S.Unverricht-Lundborg disease (ULD) is a common form of progressive myoclonic epilepsy caused by mutations in the cystatin B gene (CSTB) that encodes an inhibitor of several lysosomal cathepsins. Presently, only pharmacological treatment and psychosocial support are available for ULD patients. To overcome the pathogenic effect of the ULD splicing mutation c.66G>A (exon 1), we investigated whether an antisense oli...
Pão com elevado teor em amido resistente enriquecido com farinha de grão-de-bico
Lebre, F.; Amaral, O.O pão é um alimento base e uma das mais importantes fontes de hidratos de carbono da dieta dos portugueses. Contém pequenas quantidades de amido resistente (AR) mas, de acordo com diversos estudos, é possível fomentar a sua formação durante o processo de fabrico. O AR, definido como a soma do amido e produtos da sua degradação que não são absorvidos no intestino delgado, constitui um dos componentes da fibra al...
Desenvolvimento de bolachas de farinha de banana verde irradiada e conservação ...
Raposo, N.; Dias, J.; Amaral, O.; Carvalho, M. J.; Taipina, M.; Alvarenga, N.A banana é um dos frutos mais consumidos no mundo, no entanto um quinto da sua produção é desperdiçada, devido às perdas pós colheita ou por não se enquadrar nos padrões de aceitabilidade do consumidor. A farinha de banana verde (FBV) surge assim como uma alternativa para minimizar estas perdas. Contendo uma boa fonte de fibras, amido resistente e micronutrientes importantes para a saúde humana, a FBV apresenta...
Unverricht-Lundborg disease: development of splicing therapeutic approaches for...
Matos, L.; Duarte, A.J.; Ribeiro, D.; Jordan, P.; Prata, M.J.; Chaves, J.; Desviat, L.R.; Pérez, B.; Amaral, O.; Alves, S.Unverricht-Lundborg disease (ULD) is the most common form of progressive myoclonic epilepsy worldwide. It is an autosomal recessive neurodegenerative disorder caused by mutations in the cystatin B gene (CSTB) that encodes an inhibitor of several lysosomal cathepsins. An unstable expansion, missense, nonsense, frameshift and mutations that may lead to alternative splicing have been described as causal of ULD. Re...
Lack of Cystatin B Protein as a Cause Of Myoclonic Epilepsy
Amaral, O.; Duarte, A.; Pinto, E.; Freitas, J.; Chaves, J.Unverricht-Lundborg disease (ULD; MIM 254800) is the most frequent cause of progressive myoclonic epilepsy. CSTB mutations (locus 21q22.3; MIM 601145), with cystatin B loss of function and subsequent loss of lysosomal association, have been described as the major cause of this disease.
Molecular diagnosis of Gaucher disease in Tunisia
Cherif, W.; Ben Turkia, H.; Ben Rhouma, F.; Riahi, I.; Chemli, J.; Amaral, O.; Sá Miranda, M.C.; Caillaud, C.; Kaabachi, N.; Tebib, N.; Ben Dridi, M.F.[ENG] Gaucher disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid b-glucosidase. In order to determine the mutation spectrum in Tunisia, we performed recurrent mutation screening in 30 Tunisian patients with Gaucher disease. Screening of recurrent mutation by PCR/RFLP and direct sequencing had shown that N370S was the most frequent mutation (22/50 mutant alleles, 44%), followed by ...
Rapid and cost-effective method for the detection of the c.533G>A mutation in t...
Ribeiro, D.; Duarte, A.J.; Amaral, O.Tay-Sachs disease is a rare autosomal recessive neurodegenerative disorder that results from mutations in the HEXA gene, leading to β-hexosaminidase A (HexA) α subunit deficiency. An unusual variant of Tay-Sachs disease is known as the B1 variant. Previous studies indicated that, in northern Portugal, this is not only the most common variant but also one of the most prevalent lysosomal storage diseases. Additio...
Gaucher disease in Tunisia: High frequency of the most common mutations
Cherif, W.; Ben Turkia, H.; Ben Rhouma, F.; Riahi, I.; Chemli, J.; Kefi, R.; Messai, H.; Amaral, O.; Miranda, M.C.; Caillaud, C.; Tebib, N.
Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic ...
Lugowska, A.; Amaral, O.; Berger, J.; Berna, L.; Bosshard, N.; Chabas, A.; Fensom, A.; Gieselmann, V.; Gorovenko, N.; Lissens, W.; Mansson, J.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 different 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 identified 143 times (18.6%). Thus, these two mutations...
Allelic frequency determination of the 24-bp chitotriosidase duplication in the...
Rodrigues, M.R.; Sá Miranda, M.C.; Amaral, O.Chitotriosidase is a human chitinase produced by macrophages. Its enzymatic activity is markedly elevated in serum of patients suffering from lysosomal storage disorders, as well as other diseases in which macrophages are activated. Therefore, it is a useful tool as a secondary marker in the diagnosis of several disorders including Gaucher disease type 1 and Niemann–Pick disease. The determination of chitotrios...