Search Results - "Alméciga, Carlos J."
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Therapeutic Options for Mucopolysaccharidoses: Current and Emerging Treatments
Published in Drugs (New York, N.Y.) (01-07-2019)“…Mucopolysaccharidoses (MPS) are inborn errors of metabolism produced by a deficiency of one of the enzymes involved in the degradation of glycosaminoglycans…”
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Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA
Published in Scientific reports (17-02-2024)“…Lysosomal storage diseases (LSDs) are a group of monogenic diseases characterized by mutations in genes coding for proteins associated with the lysosomal…”
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CRISPR-Cas9 approach confirms Calcineurin-responsive zinc finger 1 (Crz1) transcription factor as a promising therapeutic target in echinocandin-resistant Candida glabrata
Published in PloS one (18-03-2022)“…Invasive fungal infections, which kill more than 1.6 million patients each year worldwide, are difficult to treat due to the limited number of antifungal drugs…”
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Advances in the Development of Pharmacological Chaperones for the Mucopolysaccharidoses
Published in International journal of molecular sciences (29-12-2019)“…The mucopolysaccharidoses (MPS) are a group of 11 lysosomal storage diseases (LSDs) produced by mutations in the enzymes involved in the lysosomal catabolism…”
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Human recombinant lysosomal β‐Hexosaminidases produced in Pichia pastoris efficiently reduced lipid accumulation in Tay‐Sachs fibroblasts
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01-12-2020)“…GM2 gangliosidosis, Tay‐Sachs and Sandhoff diseases, are lysosomal storage disorders characterized by the lysosomal accumulation of GM2 gangliosides. This…”
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Production of Trametes pubescens laccase under submerged and semi-solid culture conditions on agro-industrial wastes
Published in PloS one (03-09-2013)“…Laccases are copper-containing enzymes involved in the degradation of lignocellulosic materials and used in the treatment of phenol-containing wastewater. In…”
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Improvement in the production of the human recombinant enzyme N-acetylgalactosamine-6-sulfatase (rhGALNS) in Escherichia coli using synthetic biology approaches
Published in Scientific reports (19-07-2017)“…Previously, we demonstrated production of an active recombinant human N-acetylgalactosamine-6-sulfatase (rhGALNS) enzyme in Escherichia coli as a potential…”
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Recombinant human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) produced in the methylotrophic yeast Pichia pastoris
Published in Scientific reports (05-07-2016)“…Mucopolysaccharidosis IV A (MPS IV A, Morquio A disease) is a lysosomal storage disease (LSD) produced by mutations on N-acetylgalactosamine-6-sulfate…”
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Bromocriptine as a Novel Pharmacological Chaperone for Mucopolysaccharidosis IV A
Published in ACS medicinal chemistry letters (09-07-2020)“…Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the gene encoding for the enzyme N-acetylgalactosamine-6-sulfate…”
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Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene
Published in Stem cell research (01-04-2019)“…Mucopolysaccharidosis type IVA (MPS IVA) is a rare genetic disease caused by mutations in the GALNS gene and is inherited in an autosomal recessive manner…”
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Adeno-associated virus gene transfer in Morquio A disease - effect of promoters and sulfatase-modifying factor 1
Published in The FEBS journal (01-09-2010)“…Mucopolysaccharidosis (MPS) IVA is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme N-acetylgalatosamine-6-sulfate sulfatase…”
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Use of a neuron-glia genome-scale metabolic reconstruction to model the metabolic consequences of the Arylsulphatase a deficiency through a systems biology approach
Published in Heliyon (01-07-2021)“…Metachromatic leukodystrophy (MLD) is a human neurodegenerative disorder characterized by progressive damage on the myelin band in the nervous system. MLD is…”
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Development of Bone Targeting Drugs
Published in International journal of molecular sciences (23-06-2017)“…The skeletal system, comprising bones, ligaments, cartilage and their connective tissues, is critical for the structure and support of the body. Diseases that…”
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Evaluation of HIV–1 derived lentiviral vectors as transductors of Mucopolysaccharidosis type IV a fibroblasts
Published in Gene (15-05-2021)“…•HIV-1 derived lentiviral vectors were used to mediate the transduction of GALNS and SUMF1 cDNAs in MPS IVA fibroblasts.•Lentiviral vectors have…”
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Gene therapy for Mucopolysaccharidoses
Published in Molecular genetics and metabolism (01-02-2018)“…Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders (LSDs) caused by a deficiency of lysosomal enzymes, leading to a wide range of various…”
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Computational analysis of the fructosyltransferase enzymes in plants, fungi and bacteria
Published in Gene (15-09-2011)“…Fructosyltransferases (FTases) are enzymes produced by plants, fungi, and bacteria, which are responsible for the synthesis of fructooligosaccharides. In this…”
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Mucopolysaccharidosis IVA and glycosaminoglycans
Published in Molecular genetics and metabolism (01-01-2017)“…Mucopolysaccharidosis IVA (MPS IVA; Morquio A: OMIM 253000) is a lysosomal storage disease with an autosomal recessive trait caused by the deficiency of…”
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Characterization of a New Bacteriocin from Lactobacillus plantarum LE5 and LE27 Isolated from Ensiled Corn
Published in Applied biochemistry and biotechnology (01-04-2014)“…Bacteriocins are low molecular peptides with antimicrobial activity, which are of great interest as food bio-preservatives and for treating diseases caused by…”
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Characterization of a recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in E. coli for enzyme replacement therapy of Morquio A disease
Published in Process biochemistry (1991) (01-12-2012)“…► rGALNS was extracellularly produced in Escherichia coli BL21. ► Purified enzyme showed a 0.21Umg−1 activity and a production yield of 0.78mgL−1. ► rGALNS…”
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Identification of the iduronate-2-sulfatase proteome in wild-type mouse brain
Published in Heliyon (01-05-2019)“…Iduronate-2-sulfatase (IDS) is a lysosomal enzyme involved in the metabolism of the glycosaminoglycans heparan (HS) and dermatan (DS) sulfate. Mutations on IDS…”
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