Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria.

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cystinuria 19 endocrinologydiseases
homocystinuria 13 endocrinologydiseases
maple syrup urine disease 1 endocrinologydiseases
mitochondrial disease 2 endocrinologydiseases
osteoporosis 1 endocrinologydiseases
propionic acidemia 1 endocrinologydiseases

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cystinuria 141 LongevityAltered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homo cystinuria Eva RichardLorena Gallego-VillarAna Rivera-BarahonaAlfonso OyarzábalBelén PérezPilar Rodríguez-PomboLourdes
cystinuria 1094 and processes resulting in elevated levels of reactive oxygen species (ROS). In other IEMs, as in homo cystinuria , different sources of ROS have been proposed. In patients' samples, as well as in cellular and animal
cystinuria 1791 and impaired redox signaling in branched-chain amino acid disorders, other organic acidurias, and homo cystinuria , along with recent studies exploring the efficiency of antioxidants and mitochondria-targeted therapies
cystinuria 9356 amino acid disorders, organic acidurias, and defects leading to the accumulation of homocysteine (homo cystinuria ) (Figure 1). For other IEMs, namely inherited mitochondrial diseases and fatty acid oxidation disorders,
cystinuria 20769 defects in Adocbl synthesis, and methylmalonyl-CoA epimerase deficiency and (ii) combined MMA and homo cystinuria , characterized by methylmalonic acid and homocysteine accumulation and caused by defects in intracellular
cystinuria 24511 liver samples from MMA mut0 patients undergoing transplantation [[91]].2.3.2. MMA Combined with Homo cystinuria Cobalamin deficiency type C with methylmalonic aciduria and homocystinuria (cblC; MMACHC; MIM #277400
cystinuria 24585 [[91]].2.3.2. MMA Combined with HomocystinuriaCobalamin deficiency type C with methylmalonic aciduria and homo cystinuria (cblC; MMACHC; MIM #277400 and #609831) (Figure 1) is the most frequent genetic disorder of vitamin
cystinuria 25854 due to accumulation of methylmalonic acid, as well as of homocysteine-derived ROS (see below, the Homo cystinuria section). Patient-derived fibroblasts showed elevated ROS, apoptosis, and active phosphorylated forms
cystinuria 31068 metabolites have been shown to disrupt energy homeostasis and cause lipid peroxidation [[120]].3. Homo cystinuria In several IEMs, increased ROS causes pathophysiological oxidative damage that is not originated in the
cystinuria 31220 pathophysiological oxidative damage that is not originated in the mitochondria. This is the case of homo cystinuria in which excess homocysteine (Hcy) directly promotes ROS formation. Hcy is a sulphur-containing amino
cystinuria 32507 pathways: remethylation to methionine and transsulfuration to cystathionine [[127]]. Inherited homo cystinuria s have in common accumulation of homocysteine with subsequent neurotoxicity. This group of diseases encompasses
cystinuria 32678 neurotoxicity. This group of diseases encompasses two distinctive clinical entities: classical homo cystinuria due to cystathionine β-synthase (CBS) deficiency (transsulfuration pathway) and the rare inborn errors
cystinuria 32880 inborn errors of cobalamin and folate metabolism (remethylation pathway) [[128]] (Figure 1).3.1. Homo cystinuria due to Cystathionine β-Synthase DeficiencyDeficiency of cystathionine β-synthase (CBS, MIM #236200)
cystinuria 34039 mental retardation [[127]].Oxidative stress may play an important role in the pathophysiology of homo cystinuria , as deduced from studies carried out in patients and animal models [[129]]. Protein, lipid, and DNA
cystinuria 34451 mice [[133]] and in samples from animal models subjected to Hcy administration [[134], [135]].3.2. Homo cystinuria due to Remethylation DefectsRemethylation disorders are due to deficiencies of enzymes involved in the
cystinuria 34612 disorders are due to deficiencies of enzymes involved in the remethylation of Hcy to methionine causing homo cystinuria . They include defects in methionine synthase (MTR, MIM #156570), methionine synthase reductase (MTRR,
cystinuria 44579 involved in the development of the characteristic neurological symptoms of PA, MMA, MSUD, GAI, and homo cystinuria patients. Even though the transport rate of antioxidants through the blood brain barrier is low, different
cystinuria 47609 [[170]].Taurine, a compound potentially reducing oxidative damage, is being tested in a clinical trial with homo cystinuria (CBS-deficient) patients (NCT01192828). Taurine treatment in a mouse model of CBS deficiency reversed
cystinuria 51348 metabolic pathways and their cellular localization affected in branched-chain organic acidurias and homo cystinuria disorders mentioned in this work. The affected genes and corresponding diseases (in boxes) are shown
homocystinuria 1090 enzymes and processes resulting in elevated levels of reactive oxygen species (ROS). In other IEMs, as in homocystinuria , different sources of ROS have been proposed. In patients' samples, as well as in cellular and animal
homocystinuria 1787 stress, and impaired redox signaling in branched-chain amino acid disorders, other organic acidurias, and homocystinuria , along with recent studies exploring the efficiency of antioxidants and mitochondria-targeted therapies
homocystinuria 9352 branched-chain amino acid disorders, organic acidurias, and defects leading to the accumulation of homocysteine ( homocystinuria ) (Figure 1). For other IEMs, namely inherited mitochondrial diseases and fatty acid oxidation disorders,
homocystinuria 20765 deficiency, defects in Adocbl synthesis, and methylmalonyl-CoA epimerase deficiency and (ii) combined MMA and homocystinuria , characterized by methylmalonic acid and homocysteine accumulation and caused by defects in intracellular
homocystinuria 24581 [[91]].2.3.2. MMA Combined with HomocystinuriaCobalamin deficiency type C with methylmalonic aciduria and homocystinuria (cblC; MMACHC; MIM #277400 and #609831) (Figure 1) is the most frequent genetic disorder of vitamin
homocystinuria 31216 pathophysiological oxidative damage that is not originated in the mitochondria. This is the case of homocystinuria in which excess homocysteine (Hcy) directly promotes ROS formation. Hcy is a sulphur-containing amino
homocystinuria 32503 two pathways: remethylation to methionine and transsulfuration to cystathionine [[127]]. Inherited homocystinuria s have in common accumulation of homocysteine with subsequent neurotoxicity. This group of diseases encompasses
homocystinuria 32674 subsequent neurotoxicity. This group of diseases encompasses two distinctive clinical entities: classical homocystinuria due to cystathionine β-synthase (CBS) deficiency (transsulfuration pathway) and the rare inborn errors
homocystinuria 34035 and mental retardation [[127]].Oxidative stress may play an important role in the pathophysiology of homocystinuria , as deduced from studies carried out in patients and animal models [[129]]. Protein, lipid, and DNA
homocystinuria 34608 disorders are due to deficiencies of enzymes involved in the remethylation of Hcy to methionine causing homocystinuria . They include defects in methionine synthase (MTR, MIM #156570), methionine synthase reductase (MTRR,
homocystinuria 44575 involved in the development of the characteristic neurological symptoms of PA, MMA, MSUD, GAI, and homocystinuria patients. Even though the transport rate of antioxidants through the blood brain barrier is low, different
homocystinuria 47605 [[170]].Taurine, a compound potentially reducing oxidative damage, is being tested in a clinical trial with homocystinuria (CBS-deficient) patients (NCT01192828). Taurine treatment in a mouse model of CBS deficiency reversed
homocystinuria 51344 metabolic pathways and their cellular localization affected in branched-chain organic acidurias and homocystinuria disorders mentioned in this work. The affected genes and corresponding diseases (in boxes) are shown
maple syrup urine disease 10437 role of BCAAs metabolism in humans' health and disease, as was evidenced with the characterization of maple syrup urine disease (MSUD) [[37]] and, more recently, with the description of branched-chain ketoacid dehydrogenase kinase
mitochondrial disease 9413 leading to the accumulation of homocysteine (homocystinuria) (Figure 1). For other IEMs, namely inherited mitochondrial disease s and fatty acid oxidation disorders, the readers are referred to recent reviews [[9], [33]].2. Branched-Chain
mitochondrial disease 47474 diseases characterized by oxidative stress and alterations in glutathione redox balance, as is the case of mitochondrial disease s [[170]].Taurine, a compound potentially reducing oxidative damage, is being tested in a clinical trial
osteoporosis 33871 clinical manifestations in various organs and tissues, such as thinning and lengthening of the long bones, osteoporosis , dislocation of the ocular lens, thromboembolism, and mental retardation [[127]].Oxidative stress may
propionic acidemia 10916 organic acids in body fluids [[40]]. More than 65 organic acidurias have been described, with MSUD, propionic acidemia (PA), and methylmalonic acidurias (MMA) among the most prevalent. A secondary mitochondrial dysfunction

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