New approaches to the treatment of orphan genetic disorders: Mitigating molecular pathologies using chemicals.

Abstract:

:With the advance and popularization of molecular techniques, the identification of genetic mutations that cause diseases has increased dramatically. Thus, the number of laboratories available to investigate a given disorder and the number of subsequent diagnosis have increased over time. Although it is necessary to identify mutations and provide diagnosis, it is also critical to develop specific therapeutic approaches based on this information. This review aims to highlight recent advances in mutation-targeted therapies with chemicals that mitigate mutational pathology at the molecular level, for disorders that, for the most part, have no effective treatment. Currently, there are several strategies being used to correct different types of mutations, including the following: the identification and characterization of translational readthrough compounds; antisense oligonucleotide-mediated splicing redirection; mismatch repair; and exon skipping. These therapies and other approaches are reviewed in this paper.

journal_name

An Acad Bras Cienc

authors

Velho RV,Sperb-Ludwig F,Schwartz IV

doi

10.1590/0001-3765201520140711

subject

Has Abstract

pub_date

2015-08-01 00:00:00

pages

1375-88

issue

2 Suppl

eissn

0001-3765

issn

1678-2690

pii

S0001-37652015005040711

journal_volume

87

pub_type

杂志文章,评审
  • Secondary structure of soybean trypsin inhibitor (Kunitz): a study by infrared spectroscopy.

    abstract::The infrared spectrum (amide I' region) of Kunitz soybean trypsin inhibitor (SBTI) was obtained in D2O solution and resolved into Gaussian components. A prominent broad band centered at 1643 cm-1 is shown on the unresolved spectrum, which is usually assigned to N-deuterated peptide groups in an unordered structure, si...

    journal_title:Anais da Academia Brasileira de Ciencias

    pub_type: 杂志文章

    doi:

    authors: Ventura MM

    更新日期:1989-01-01 00:00:00

  • Fundamental tone estimates for elliptic operators in divergence form and geometric applications.

    abstract::We establish a method for giving lower bounds for the fundamental tone of elliptic operators in divergence form in terms of the divergence of vector fields. We then apply this method to the Lr operator associated to immersed hypersurfaces with locally bounded (r + 1)-th mean curvature Hr + 1 of the space forms Nn+ 1(c...

    journal_title:Anais da Academia Brasileira de Ciencias

    pub_type: 杂志文章

    doi:10.1590/s0001-37652006000300001

    authors: Bessa GP,Jorge LP,Lima BP,Montenegro JF

    更新日期:2006-09-01 00:00:00

  • Short- and long-term memory: differential involvement of neurotransmitter systems and signal transduction cascades.

    abstract::Since William James (1890) first distinguished primary from secondary memory, equivalent to short- and long-term memory, respectively, it has been assumed that short-term memory processes are in charge of cognition while long-term memory is being consolidated. From those days a major question has been whether short-te...

    journal_title:Anais da Academia Brasileira de Ciencias

    pub_type: 杂志文章,评审

    doi:10.1590/s0001-37652000000300009

    authors: Vianna MR,Izquierdo LA,Barros DM,Walz R,Medina JH,Izquierdo I

    更新日期:2000-09-01 00:00:00

  • Artificial tritrophic exposure system for environmental risk analysis on aphidophagous predators.

    abstract::We evaluated an artificial tritrophic exposure system for use in ecotoxicological evaluations of environmental stressors on aphidophagous predators. It consists of an acrylic tube with a Parafilm M sachet containing liquid aphid diet, into which can be added environmental stressors. Immature Cycloneda sanguinea, Harmo...

    journal_title:Anais da Academia Brasileira de Ciencias

    pub_type: 杂志文章

    doi:10.1590/0001-3765201620150883

    authors: Paula DP,Souza LM,Andow DA,Sousa AA,Pires CS,Sujii ER

    更新日期:2016-09-01 00:00:00

  • Terrestrial impact structures as geoheritage: an assessment method of their scientific value and its application to Brazil.

    abstract::Terrestrial impact structures are geological and geomorphological features with particular importance to understand the history and evolution of the planet. Impact structures are scattered around the world but in many countries these features are under threat, essentially due to anthropic factors. Impact structures wi...

    journal_title:Anais da Academia Brasileira de Ciencias

    pub_type: 杂志文章

    doi:10.1590/0001-3765201720160081

    authors: Sánchez JP,Brilha JBR

    更新日期:2017-04-01 00:00:00

  • Strawberry (Fragaria X ananassa Duch.) yield as affected by the soil pH.

    abstract::Two-year trials (20062007) suggested that the use of calcium oxide (CaO) on acid soils increased soil pH and yields in strawberry cultivars Marmolada, Selena and Senga Sengana, under the environmental conditions of Cacak (Western Serbia). The highest yield was obtained when CaO was applied at 750 kg ha-1 rate. Further...

    journal_title:Anais da Academia Brasileira de Ciencias

    pub_type: 杂志文章

    doi:10.1590/s0001-37652009000200012

    authors: Milosevic TM,Milosevic NT,Glisic IP

    更新日期:2009-06-01 00:00:00

  • Histological modifications of the rat prostate following transection of somatic and autonomic nerves.

    abstract::It is known that hormones influence significantly the prostate tissue. However, we reported that mating induces an increase in androgen receptors, revealing a neural influence on the gland. These data suggested that somatic afferents (scrotal and genitofemoral nerves) and autonomic efferents (pelvic and hypogastric ne...

    journal_title:Anais da Academia Brasileira de Ciencias

    pub_type: 杂志文章

    doi:10.1590/s0001-37652010000200015

    authors: Diaz R,Garcia LI,Locia J,Silva M,Rodriguez S,Perez CA,Aranda-Abreu GE,Manzo J,Toledo R,Hernandez ME

    更新日期:2010-06-01 00:00:00

  • Blood compatibility assessments of electrospun polyurethane nanocomposites blended with megni oil for tissue engineering applications.

    abstract::Tissue engineering holds as a prominent technique to repair or replace the damaged human parts to recreate its native function. In this research, a novel scaffold based on polyurethane (PU) comprising megni oil was electrospun for tissue engineering applications. The obtained polyurethane blended with megni oil nanofi...

    journal_title:Anais da Academia Brasileira de Ciencias

    pub_type: 杂志文章

    doi:10.1590/0001-3765201920190018

    authors: Jaganathan SK,Mani MP,Supriyanto E

    更新日期:2019-06-19 00:00:00

  • The effect of seasonality on the structure of rotifers in a black-water shallow lake in Central Amazonia.

    abstract::Rotifers have often been used as indicators of sudden changes in physical and chemical features of the aquatic environment. Such features vary greatly during flood pulse events in small lakes connected to major floodplains. However, few are the studies that investigate the consequences of the flood pulse in rotifer sp...

    journal_title:Anais da Academia Brasileira de Ciencias

    pub_type: 杂志文章

    doi:10.1590/0001-3765201420130323

    authors: Nova CC,Lopes VG,Souza LC,Kozlowsky-Suzuki B,Pereira TA,Branco CW

    更新日期:2014-09-01 00:00:00

  • A new ascarid species in cynodont coprolite dated of 240 million years.

    abstract::Cynodonts represent the transition from reptiles to mammals. They are classified as synapsids, or tetrapod animals with mammalian characteristics. We present here the finding of helminth eggs in a coprolite identified as of cynodont origin dated of nearly 240 million years. Microscopy revealed the presence of very wel...

    journal_title:Anais da Academia Brasileira de Ciencias

    pub_type: 杂志文章

    doi:10.1590/0001-3765201320130036

    authors: Silva PA,Borba VH,Dutra JM,Leles D,da-Rosa AA,Ferreira LF,Araujo A

    更新日期:2014-03-01 00:00:00

  • Production of transgenic goat (Capra hircus) with human Granulocyte Colony Stimulating Factor (hG-CSF) gene in Brazil.

    abstract::In order to produce transgenic goats with hG-CSF, a total of 24 adult Saanen and 48 adult undefined breed goats were used as donors and recipients, respectively. Donors were estrus-synchronized with vaginal sponges and superovulated by a treatment with 200 mg FSH given twice daily in decreasing doses over 3 days start...

    journal_title:Anais da Academia Brasileira de Ciencias

    pub_type: 杂志文章

    doi:10.1590/s0001-37652007000400003

    authors: Freitas VJ,Serova IA,Andreeva LE,Dvoryanchikov GA,Lopes ES Jr,Teixeira DI,Dias LP,Avelar SR,Moura RR,Melo LM,Pereira AF,Cajazeiras JB,Andrade ML,Almeida KC,Sousa FC,Carvalho AC,Serov OL

    更新日期:2007-12-01 00:00:00

  • Diversity and phenology of epigeal Coleoptera assemblages in lettuce and tomato crops in Northern Buenos Aires province, Argentina.

    abstract::Epigeic coleopteran species are linked by complex trophic webs and implicated in several ecosystem services for agriculture. Although there are reports of ground-dwelling Coleopterans inhabiting main extensive agroecosystems, their assemblages in horticultural crops in Argentina have been little explored. We examined ...

    journal_title:Anais da Academia Brasileira de Ciencias

    pub_type: 杂志文章

    doi:10.1590/0001-3765202020181391

    authors: Rouaux J,Cabrera N,MartÍnez AS,Posse MC,Luna MG

    更新日期:2020-01-01 00:00:00

  • Synthesis of new (4-alkylamino-4'-fluoro)-diphenyl sulphones with potential biological activity.

    abstract::In the present work, we report the synthesis and characterization of five (4-alkylalmino-4'-fluoro)-diphenyl sulphones, four of which have not been described before. In a preliminary evaluation of their biological activity, these products showed no effect on several Gram-positive and Gram-negative bacteria and yeasts....

    journal_title:Anais da Academia Brasileira de Ciencias

    pub_type: 杂志文章

    doi:

    authors: de Sousa Júnior PT,Miller J,Giesbrecht AM

    更新日期:1996-01-01 00:00:00

  • Assessment of scientific programs: a necessary procedure for Brazilian scientific policy--the Young Investigator Program of the State of São Paulo Research Foundation.

    abstract::Programs of Science and Technology research have grown significantly in Brazil over the last decades. Until the 1980s the so-called undirected programs, without specific goals and requiring only scientific merit, prevailed. The few programs with defined goals in this period were never objectively assessed. The same si...

    journal_title:Anais da Academia Brasileira de Ciencias

    pub_type: 杂志文章

    doi:10.1590/s0001-37652007000300014

    authors: Pian CA,Meneghini R

    更新日期:2007-09-01 00:00:00

  • The contribution of heavy metal pollution derived from highway runoff to Guanabara Bay sediments--Rio de Janeiro/Brazil.

    abstract::In this study, geochemical and particle size analyses of thirty-four street sediment samples collected from an urban environment around Guanabara Bay, shows highway run-off to be a potential source of heavy metals for the pollution of near-shore sedimentary deposits. Concentrations of Fe, Mn, Zn, Cu, Pb, Cr and Ni wer...

    journal_title:Anais da Academia Brasileira de Ciencias

    pub_type: 杂志文章

    doi:10.1590/s0001-37652007000400013

    authors: Pereira E,Baptista-Neto JA,Smith BJ,McAllister JJ

    更新日期:2007-12-01 00:00:00

  • Cohort study of cardiovascular risk in asymptomatic young adults: subclinical atherosclerosis and coronary calcium score.

    abstract::Coronary artery calcification is an early marker of subclinical atherosclerosis, but little research has been done in asymptomatic individuals under 45 years. In this cohort study with 17 years of follow-up, 155 participants were assessed in 2016 with a coronary calcium score for the association with cardiovascular ri...

    journal_title:Anais da Academia Brasileira de Ciencias

    pub_type: 杂志文章

    doi:10.1590/0001-3765201820180052

    authors: Poletto S,Schvartzman PR,Bruscato NM,Moriguchi E

    更新日期:2018-09-01 00:00:00

  • The use of Fluorescence Resonance Energy Transfer (FRET) peptides for measurement of clinically important proteolytic enzymes.

    abstract::Proteolytic enzymes have a fundamental role in many biological processes and are associated with multiple pathological conditions. Therefore, targeting these enzymes may be important for a better understanding of their function and development of therapeutic inhibitors. Fluorescence Resonance Energy Transfer (FRET) pe...

    journal_title:Anais da Academia Brasileira de Ciencias

    pub_type: 杂志文章,评审

    doi:10.1590/s0001-37652009000300005

    authors: Carmona AK,Juliano MA,Juliano L

    更新日期:2009-09-01 00:00:00

  • Synthesis of new N-alkyl-2-mercapto-1-octylamines and respective disulfides.

    abstract::Four new N-alkyl-2-mercapto-1-octylamine hydrochlorides were synthesized via the reaction of 1,2-epithio-octane with corresponding amines following by conversion to the hydrochlorides. The disulfides were obtained by oxidation of the respective thiols. Upon biological assay of the products for activity against infecti...

    journal_title:Anais da Academia Brasileira de Ciencias

    pub_type: 杂志文章

    doi:

    authors: Vieira Filho SA,Nelson DL,Piló-Veloso D

    更新日期:1986-12-01 00:00:00

  • Production, extraction and characterization of exopolysaccharides produced by the native Leuconostoc pseudomesenteroides R2 strain.

    abstract::The genus Leuconostoc belongs to a group of lactic acid bacteria usually isolated from fermented vegetables, which includes species involved in the production of exopolysaccharides (EPS). These biopolymers possess considerable commercial potential. Because of the wide variety of industrial applications of EPS, this st...

    journal_title:Anais da Academia Brasileira de Ciencias

    pub_type: 杂志文章

    doi:10.1590/s0001-37652012000200018

    authors: Paulo EM,Boffo EF,Branco A,Valente AM,Melo IS,Ferreira AG,Roque MR,Assis SA

    更新日期:2012-06-01 00:00:00

  • Evaluation in vivo of biocompatibility of differents resin-modified cements for bonding orthodontic bands.

    abstract::The focus of this study was to test the hypothesis that there would be no difference between the biocompatibility of resin-modified glass ionomer cements. Sixty male Wistar rats were selected and divided into four groups: Control Group; Crosslink Group; RMO Group and Transbond Group. The materials were inserted into r...

    journal_title:Anais da Academia Brasileira de Ciencias

    pub_type: 杂志文章

    doi:10.1590/0001-3765201720170329

    authors: Mesquita JA,Lacerda-Santos R,Sampaio GAM,Godoy GP,Nonaka CFW,Alves PM

    更新日期:2017-01-01 00:00:00

  • Effect of herbicides in the oxidative stress in crop winter species.

    abstract::Most herbicides applied in crop field, stay in the soil for a period, affecting next crop or even the plants using as green manure. Nowadays, the use of herbicides grow to increase productivity, mainly in the grain producing region north of Rio Grande do Sul state. The objective of this study was to evaluate the effec...

    journal_title:Anais da Academia Brasileira de Ciencias

    pub_type: 杂志文章

    doi:10.1590/0001-3765201820170482

    authors: Alves C,Costa E,Sofiatti JR,Forte CT,Winter FL,Holz CM,Kaizer RR,Galon L

    更新日期:2018-04-01 00:00:00

  • Splendid oddness: revisiting the curious trophic relationships of South American Pleistocene mammals and their abundance.

    abstract::The South American Pleistocene mammal fauna includes great-sized animals that have intrigued scientists for over two centuries. Here we intend to update the knowledge on its palaeoecology and provide new evidence regarding two approaches: energetics and population density and relative abundance of fossils per taxa. To...

    journal_title:Anais da Academia Brasileira de Ciencias

    pub_type: 杂志文章

    doi:10.1590/0001-3765201420120010

    authors: Fariña RA,Czerwonogora A,di Giacomo M

    更新日期:2014-03-01 00:00:00

  • Lutzomyia longipalpis (Diptera: Psychodidae: Phlebotominae): a review.

    abstract::Lutzomyia longipalpis is the most important vector of AmericanVisceral Leishmaniasis (AVL) due to Leishmania chagasi in the New World. Despite its importance, AVL, a disease primarily of rural areas, has increased its prevalence and became urbanized in some large cities in Brazil and other countries in Latin America. ...

    journal_title:Anais da Academia Brasileira de Ciencias

    pub_type: 杂志文章,评审

    doi:10.1590/s0001-37652003000300005

    authors: Soares RP,Turco SJ

    更新日期:2003-09-01 00:00:00

  • Phenolic content and antioxidant capacity of infusions herbs: Optimization of phenolic extraction and HPLC-DAD method.

    abstract::The aim of this work was to investigate the phenolic content and antioxidant capacity of infusions of commercial herb samples (fennel, anise, peppermint, lemon grass and lemon balm) popularly consumed in Brazil. The infusion preparation for phenolic extraction was optimized using multivariate planning. Spectrophotomet...

    journal_title:Anais da Academia Brasileira de Ciencias

    pub_type: 杂志文章

    doi:10.1590/0001-3765202020190646

    authors: Santos WNLD,MagalhÃes BEA

    更新日期:2020-11-11 00:00:00

  • Drought monitoring in the Brazilian Semiarid region.

    abstract::Drought is a natural and recurrent phenomenon. It is considered 'a natural disaster' whenever it occurs in an intensive manner in highly populated regions, resulting in significant damage (material and human) and loss (socioeconomic). This paper presents the efforts developed to monitor the impact of drought in the se...

    journal_title:Anais da Academia Brasileira de Ciencias

    pub_type: 杂志文章

    doi:10.1590/0001-3765201720170209

    authors: Alvalá RCS,Cunha APMA,Brito SSB,Seluchi ME,Marengo JA,Moraes OLL,Carvalho MA

    更新日期:2019-01-01 00:00:00

  • Some considerations about the ecology of Triatominae.

    abstract::Observations on the ecology of silvatic Triatominae are still fragmentary, principally because target species in control process are almost exclusively domestic. Report of silvatic species invading human dwellings must lead research to be focused on their original ecology, in order to assist in understanding their pro...

    journal_title:Anais da Academia Brasileira de Ciencias

    pub_type: 杂志文章

    doi:10.1590/s0001-37652005000300006

    authors: Noireau F,Carbajal-de-la-Fuente AL,Lopes CM,Diotaiuti L

    更新日期:2005-09-01 00:00:00

  • Development of a real-time PCR assay for the detection of the golden mussel ( Limnoperna fortunei , Mytilidae) in environmental samples.

    abstract::The golden mussel, Limnoperna fortunei, is among the most devastating invasive species in freshwater habitats worldwide, leading to severe environmental disturbances and economic losses. Therefore, management efforts would be greatly improved by methods that efficiently detect and quantify the abundance of the golden ...

    journal_title:Anais da Academia Brasileira de Ciencias

    pub_type: 杂志文章

    doi:10.1590/0001-3765201720160723

    authors: Pie MR,Ströher PR,Agostinis AO,Belmonte-Lopes R,Tadra-Sfeir MZ,Ostrensky A

    更新日期:2017-04-01 00:00:00

  • Voltammetric characteristics of miconazole and its cathodic stripping voltammetric determination.

    abstract::Miconazole is reduced at mercury electrode above pH 6 involving organometallic compound formation, responsible for an anomalous polarographic behavior. The electrodic process presents a large contribution of the adsorption effects. The drug can be determined by cathodic stripping voltammetry from 8.0 x 10(-8) to 1, 5 ...

    journal_title:Anais da Academia Brasileira de Ciencias

    pub_type: 杂志文章

    doi:10.1590/s0001-37652002000300005

    authors: Pereira FC,Stradiotto NR,Zanoni MV

    更新日期:2002-09-01 00:00:00

  • On reduced L2 cohomology of hypersurfaces in spheres with finite total curvature.

    abstract::In this paper, we prove that the dimension of the second space of reduced L2 cohomology of M is finite if is a complete noncompact hypersurface in a sphere ...

    journal_title:Anais da Academia Brasileira de Ciencias

    pub_type: 杂志文章

    doi:10.1590/0001-3765201620150085

    authors: Zhu P

    更新日期:2016-10-01 00:00:00

  • Standardization of a method to study angiogenesis in a mouse model.

    abstract::In the adult organism, angiogenesis is restricted to a few physiological conditions. On the other hand, uncontrolled angiogenesis have often been associated to angiogenesis-dependent pathologies. A variety of animal models have been described to provide more quantitative analysis of in vivo angiogenesis and to charact...

    journal_title:Anais da Academia Brasileira de Ciencias

    pub_type: 杂志文章

    doi:10.1590/0001-3765201378011

    authors: Feder D,Perrazo FF,Pereira EC,Forsait S,Feder CK,Junqueira PE,Junqueira VB,Azzalis LA,Fonseca FL

    更新日期:2013-01-01 00:00:00