phenylketonurias/protease

Le lien est enregistré dans le presse-papiers

Des articlesEssais cliniquesBrevets

Choisissez le type de tri

14 résultats

Identification and in vitro expression of mutations causing dihydropteridine reductase deficiency.

Seuls les utilisateurs enregistrés peuvent traduire des articles

Se connecter S'inscrire

Six mutations resulting in the recessive inherited disorder dihydropteridine reductase deficiency are reported, five of which are previously unknown. Two are nonsense mutations, resulting in premature termination of the protein, with the remaining four being missense mutations. The mutations found

Converting an injectable protein therapeutic into an oral form: phenylalanine ammonia lyase for phenylketonuria.

Seuls les utilisateurs enregistrés peuvent traduire des articles

Se connecter S'inscrire

Phenylalanine ammonia lyase (PAL) has long been recognized as a potential enzyme replacement therapeutic for treatment of phenylketonuria. However, various strategies for the oral delivery of PAL have been complicated by the low intestinal pH, aggressive proteolytic digestion and circulation time in

Protein Misfolding Diseases and Therapeutic Approaches.

Seuls les utilisateurs enregistrés peuvent traduire des articles

Se connecter S'inscrire

Protein folding is the process by which a polypeptide chain acquires its functional, native 3D structure. Protein misfolding, on the other hand, is a process in which proteins fails to fold into its native functional conformation. This misfolding of proteins may lead to precipitation of number of

Protein misfolding, aggregation, and degradation in disease.

Seuls les utilisateurs enregistrés peuvent traduire des articles

Se connecter S'inscrire

Pathologies associated with protein misfolding have been observed in neurodegenerative diseases such as Alzheimer's disease, metabolic diseases like phenylketonuria, and diseases affecting structural proteins like collagen or keratin. Misfolding of mutant proteins in these and many other diseases

PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme.

Seuls les utilisateurs enregistrés peuvent traduire des articles

Se connecter S'inscrire

The G46S mutation in the phenylalanine hydroxylase (PAH) gene was identified by fluorescence-based single-strand conformation polymorphism (F-SSCP) analysis on phenylketonuria (PKU) haplotype 5.9 alleles. DNA sequencing of PAH exon 2 revealed a G-to-A transition in cDNA position 136. G46S mutations

A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and height.

Seuls les utilisateurs enregistrés peuvent traduire des articles

Se connecter S'inscrire

BACKGROUND Several recessive Mendelian disorders are common in Europeans, including cystic fibrosis (CFTR), medium-chain-acyl-Co-A-dehydrogenase deficiency (ACADM), phenylketonuria (PAH) and alpha 1-antitrypsin deficiency (SERPINA1). METHODS In a multicohort study of >19,000 older individuals, we

N-lactoyl-amino acids are ubiquitous metabolites that originate from CNDP2-mediated reverse proteolysis of lactate and amino acids.

Seuls les utilisateurs enregistrés peuvent traduire des articles

Se connecter S'inscrire

Despite technological advances in metabolomics, large parts of the human metabolome are still unexplored. In an untargeted metabolomics screen aiming to identify substrates of the orphan transporter ATP-binding cassette subfamily C member 5 (ABCC5), we identified a class of mammalian metabolites,

Toward PKU enzyme replacement therapy: PEGylation with activity retention for three forms of recombinant phenylalanine hydroxylase.

Seuls les utilisateurs enregistrés peuvent traduire des articles

Se connecter S'inscrire

Phenylketonuria (PKU) is a disease in which phenylalanine and phenylalanine-derived metabolites build up to neurotoxic levels due to mutations in the phenylalanine hydroxylase gene (PAH). Enzyme replacement therapy is a viable option to supply active PAH. However, the inherent protease sensitivity

Modulating the pH Activity Profiles of Phenylalanine Ammonia Lyase from Anabaena variabilis by Modification of Center-Near Surface Residues.

Seuls les utilisateurs enregistrés peuvent traduire des articles

Se connecter S'inscrire

Phenylalanine ammonia lyase from Anabaena variabilis (Av-PAL) is a candidate for the treatment of phenylketonuria (PKU). However, Av-PAL shows its optimal pH at 8.5 and maintains only 70% of its highest activity when pH decreases to 7.3-7.4 (the condition of human plasma). The objective of the study

Protein misfolding disorders: pathogenesis and intervention.

Seuls les utilisateurs enregistrés peuvent traduire des articles

Se connecter S'inscrire

Newly synthesized proteins in the living cell must go through a folding process to attain their functional structure. To achieve this in an efficient fashion, all organisms, including humans, have evolved a large set of molecular chaperones that assist the folding as well as the maintenance of the

A microparticulate based formulation to protect therapeutic enzymes from proteolytic digestion: phenylalanine ammonia lyase as case study.

Seuls les utilisateurs enregistrés peuvent traduire des articles

Se connecter S'inscrire

Phenylketonuria is a genetic disorder affecting the metabolism of phenylalanine (phe) due to a deficiency in the enzyme phenylalanine hydroxylase. This disorder is characterized by an elevated phe blood level, which can lead to severe intellectual disabilities in newborns. The current strategy to

Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders.

Seuls les utilisateurs enregistrés peuvent traduire des articles

Se connecter S'inscrire

Many disease-causing point mutations do not seriously compromise synthesis of the affected polypeptide but rather exert their effects by impairing subsequent protein folding or stability of the folded protein. This often results in rapid degradation of the affected protein. The concepts of such

Structural and biochemical characterization of the therapeutic Anabaena variabilis phenylalanine ammonia lyase.

Seuls les utilisateurs enregistrés peuvent traduire des articles

Se connecter S'inscrire

We have recently observed promising success in a mouse model for treating the metabolic disorder phenylketonuria with phenylalanine ammonia lyase (PAL) from Rhodosporidium toruloides and Anabaena variabilis. Both molecules, however, required further optimization in order to overcome problems with

Protein misfolding and degradation in genetic diseases.

Seuls les utilisateurs enregistrés peuvent traduire des articles

Se connecter S'inscrire

Investigations of genetic diseases such as cystic fibrosis, alpha-1-antitrypsin deficiency, phenylketonuria, mitochondrial acyl-CoA dehydrogenase deficiencies, and many others have shown that enhanced proteolytic degradation of mutant proteins is a common molecular pathological mechanism. Detailed

Rejoignez notre
page facebook

Herbal & Natural Medicine

La base de données d'herbes médicinales la plus complète soutenue par la science

Fonctionne en 55 langues
Cures à base de plantes soutenues par la science
Reconnaissance des herbes par image
Carte GPS interactive - étiquetez les herbes sur place (à venir)
Lisez les publications scientifiques liées à votre recherche
Rechercher les herbes médicinales par leurs effets
Organisez vos intérêts et restez à jour avec les nouvelles recherches, essais cliniques et brevets

Tapez un symptôme ou une maladie et lisez des informations sur les herbes qui pourraient aider, tapez une herbe et voyez les maladies et symptômes contre lesquels elle est utilisée.
* Toutes les informations sont basées sur des recherches scientifiques publiées