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Enzymes et coenzymes
Enzymes
Transferases
Phosphotransferases
Nucleotidyltransferases
Polynucleotide adenylyltransferase
Polynucleotide adenylyltransferase : Questions médicales fréquentes
Diagnostic
5
Déficience enzymatique
Tests génétiques
Tests biochimiques
Activité enzymatique
Symptômes
Troubles de croissance
Marqueurs biologiques
ARN
Tests génétiques
Mutations
Symptômes
5
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Troubles de croissance
Troubles neurologiques
Convulsions
Problèmes digestifs
Nausées
Prévention
5
Dépistage néonatal
Santé publique
Conseils génétiques
Risques
Éducation
Gestion de la maladie
Traitements
5
Suppléments
Thérapies de soutien
Thérapie génique
Recherche
Nutrition
Système immunitaire
Soins palliatifs
Qualité de vie
Complications
5
Complications
Infections graves
Réversibilité
Gestion des complications
Qualité de vie
Complications
Complications neurologiques
Troubles cognitifs
Facteurs de risque
5
Facteurs de risque
Antécédents familiaux
Âge parental
Mutations génétiques
Facteurs environnementaux
Toxines
Maladies auto-immunes
Risque accru
Infections virales
Risque
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"name": "Comment diagnostiquer une déficience en polynucleotide adenylyltransferase ?",
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"text": "Des tests enzymatiques et des analyses génétiques peuvent confirmer la déficience."
}
},
{
"@type": "Question",
"name": "Quels tests sont utilisés pour évaluer l'activité de l'enzyme ?",
"position": 2,
"acceptedAnswer": {
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"text": "Des tests biochimiques mesurant l'activité enzymatique dans des échantillons cellulaires sont utilisés."
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{
"@type": "Question",
"name": "Quels symptômes peuvent indiquer un problème avec cette enzyme ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des symptômes comme la fatigue, des infections fréquentes ou des troubles de croissance peuvent apparaître."
}
},
{
"@type": "Question",
"name": "Y a-t-il des marqueurs biologiques associés à cette enzyme ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des niveaux anormaux d'ARN ou d'AMP peuvent servir de marqueurs biologiques."
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"@type": "Question",
"name": "Quels sont les symptômes d'une déficience en polynucleotide adenylyltransferase ?",
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"@type": "Question",
"name": "Y a-t-il des symptômes neurologiques associés ?",
"position": 8,
"acceptedAnswer": {
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"text": "Des troubles neurologiques comme des convulsions peuvent survenir dans certains cas."
}
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{
"@type": "Question",
"name": "Les symptômes varient-ils selon l'âge ?",
"position": 9,
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"name": "Des symptômes digestifs peuvent-ils être présents ?",
"position": 10,
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"@type": "Question",
"name": "Peut-on prévenir les déficiences en polynucleotide adenylyltransferase ?",
"position": 11,
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"text": "Actuellement, il n'existe pas de mesures préventives spécifiques pour cette déficience."
}
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{
"@type": "Question",
"name": "Le dépistage néonatal est-il recommandé ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le dépistage néonatal pour cette condition n'est pas encore standardisé."
}
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{
"@type": "Question",
"name": "Des conseils génétiques sont-ils utiles ?",
"position": 13,
"acceptedAnswer": {
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"text": "Oui, les conseils génétiques peuvent aider les familles à comprendre les risques."
}
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{
"@type": "Question",
"name": "L'éducation sur la maladie est-elle importante ?",
"position": 14,
"acceptedAnswer": {
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"text": "Oui, l'éducation des patients et des familles est cruciale pour la gestion de la maladie."
}
},
{
"@type": "Question",
"name": "Les vaccinations peuvent-elles aider ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les vaccinations peuvent prévenir certaines infections, mais ne traitent pas la déficience."
}
},
{
"@type": "Question",
"name": "Quels traitements sont disponibles pour cette déficience ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement peut inclure des suppléments d'AMP et des thérapies de soutien."
}
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{
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"name": "La thérapie génique est-elle une option ?",
"position": 17,
"acceptedAnswer": {
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"text": "La thérapie génique est en cours d'étude mais n'est pas encore largement disponible."
}
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{
"@type": "Question",
"name": "Des médicaments spécifiques sont-ils utilisés ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, il n'existe pas de médicaments spécifiques approuvés pour cette condition."
}
},
{
"@type": "Question",
"name": "Comment la nutrition peut-elle aider ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une nutrition adéquate peut soutenir le système immunitaire et la croissance."
}
},
{
"@type": "Question",
"name": "Les soins palliatifs sont-ils nécessaires ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Dans les cas graves, des soins palliatifs peuvent être nécessaires pour améliorer la qualité de vie."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir avec cette déficience ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des complications incluent des infections graves et des troubles métaboliques."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles réversibles ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être gérées, mais d'autres peuvent être permanentes."
}
},
{
"@type": "Question",
"name": "Y a-t-il un risque accru de cancer ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des études suggèrent un risque accru de certains types de cancer chez les patients."
}
},
{
"@type": "Question",
"name": "Les complications affectent-elles la qualité de vie ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les complications peuvent significativement affecter la qualité de vie des patients."
}
},
{
"@type": "Question",
"name": "Des complications neurologiques peuvent-elles survenir ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des complications neurologiques comme des troubles cognitifs peuvent se développer."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque pour cette déficience ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent des antécédents familiaux et des mutations génétiques spécifiques."
}
},
{
"@type": "Question",
"name": "L'âge parental influence-t-il le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'âge avancé des parents peut augmenter le risque de mutations génétiques."
}
},
{
"@type": "Question",
"name": "Y a-t-il des facteurs environnementaux impliqués ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des facteurs environnementaux comme l'exposition à des toxines peuvent jouer un rôle."
}
},
{
"@type": "Question",
"name": "Les maladies auto-immunes sont-elles un facteur de risque ?",
"position": 29,
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"text": "Oui, certaines maladies auto-immunes peuvent être associées à un risque accru."
}
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{
"@type": "Question",
"name": "Les infections virales peuvent-elles influencer le risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines infections virales peuvent potentiellement augmenter le risque de déficience."
}
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Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 28/11/2025
Contenu vérifié selon les dernières recommandations médicales
4 publications dans cette catégorie
Affiliations :
Department of Mechanical Engineering and Materials Science, Duke University, Durham, North Carolina 27708, United States.
Publications dans "Polynucleotide adenylyltransferase" :
3 publications dans cette catégorie
Affiliations :
Protein Structure-Function and Research Unit, School of Molecular and Cell Biology, Faculty of Science, University of the Witwatersrand, Braamfontein, Johannesburg, 2050, South Africa. Ikechukwu.Achilonu@wits.ac.za.
Publications dans "Polynucleotide adenylyltransferase" :
3 publications dans cette catégorie
Affiliations :
Department of Mechanical Engineering and Materials Science, Duke University, Durham, North Carolina 27708, United States.
Publications dans "Polynucleotide adenylyltransferase" :
3 publications dans cette catégorie
Affiliations :
Wallace H. Coulter Department of Biomedical Engineering, Georgia Institute of Technology and Emory University, Atlanta, Georgia 30322, United States.
Publications dans "Polynucleotide adenylyltransferase" :
3 publications dans cette catégorie
Affiliations :
Department of Mechanical Engineering and Materials Science, Duke University, Durham, NC, 27708, USA.
Publications dans "Polynucleotide adenylyltransferase" :
3 publications dans cette catégorie
Affiliations :
College of Chemistry and Molecular Sciences, Wuhan University, Wuhan 430072, P. R. China.
Publications dans "Polynucleotide adenylyltransferase" :
3 publications dans cette catégorie
Affiliations :
College of Chemistry and Molecular Sciences, Wuhan University, Wuhan 430072, P. R. China.
Publications dans "Polynucleotide adenylyltransferase" :
2 publications dans cette catégorie
Affiliations :
Interdisciplinary Research Center on Biology and Chemistry, Shanghai Institute of Organic Chemistry, Chinese Academy of Sciences, Shanghai, China.
University of the Chinese Academy of Sciences, Beijing, China.
Publications dans "Polynucleotide adenylyltransferase" :
2 publications dans cette catégorie
Affiliations :
Department of Molecular and Cellular Pharmacology, University of Miami Miller School of Medicine, Miami, United States.
Publications dans "Polynucleotide adenylyltransferase" :
2 publications dans cette catégorie
Affiliations :
Bio-X-Renji Hospital Research Center, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, Shanghai Jiao Tong University, Shanghai, China.
Publications dans "Polynucleotide adenylyltransferase" :
2 publications dans cette catégorie
Affiliations :
Interdisciplinary Research Center on Biology and Chemistry, Shanghai Institute of Organic Chemistry, Chinese Academy of Sciences, Shanghai, China.
University of the Chinese Academy of Sciences, Beijing, China.
Publications dans "Polynucleotide adenylyltransferase" :
2 publications dans cette catégorie
Affiliations :
School of Pharmacy, Key Laboratory of Molecular Pharmacology and Drug Evaluation (Yantai University), Ministry of Education, Collaborative Innovation Center of Advanced Drug Delivery System and Biotech Drugs in Universities of Shandong, Yantai University, Yantai, China.
Publications dans "Polynucleotide adenylyltransferase" :
2 publications dans cette catégorie
Affiliations :
Interdisciplinary Research Center on Biology and Chemistry, Shanghai Institute of Organic Chemistry, Chinese Academy of Sciences, Shanghai, China.
University of the Chinese Academy of Sciences, Beijing, China.
Publications dans "Polynucleotide adenylyltransferase" :
2 publications dans cette catégorie
Affiliations :
Interdisciplinary Research Center on Biology and Chemistry, Shanghai Institute of Organic Chemistry, Chinese Academy of Sciences, Shanghai, China.
Publications dans "Polynucleotide adenylyltransferase" :
2 publications dans cette catégorie
Affiliations :
Department of Neurology, Molecular Biology Institute, and Brain Research Institute, University of California, Los Angeles, Los Angeles, United States.
Publications dans "Polynucleotide adenylyltransferase" :
2 publications dans cette catégorie
Affiliations :
Interdisciplinary Research Center on Biology and Chemistry, Shanghai Institute of Organic Chemistry, Chinese Academy of Sciences, Shanghai, China.
Publications dans "Polynucleotide adenylyltransferase" :
2 publications dans cette catégorie
Affiliations :
Interdisciplinary Research Center on Biology and Chemistry, Shanghai Institute of Organic Chemistry, Chinese Academy of Sciences, Shanghai, China.
Publications dans "Polynucleotide adenylyltransferase" :
2 publications dans cette catégorie
Affiliations :
Interdisciplinary Research Center on Biology and Chemistry, Shanghai Institute of Organic Chemistry, Chinese Academy of Sciences, Shanghai, China.
Publications dans "Polynucleotide adenylyltransferase" :
2 publications dans cette catégorie
Affiliations :
Bio-X-Renji Hospital Research Center, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, Shanghai Jiao Tong University, Shanghai, China.
Publications dans "Polynucleotide adenylyltransferase" :
2 publications dans cette catégorie
Affiliations :
Department of Bioinformatics, Alagappa University, Karaikudi, Tamil Nadu, India.
Publications dans "Polynucleotide adenylyltransferase" :
Polymer mechanochemistry utilizes mechanical force to activate latent functionalities in macromolecules and widely relies on ultrasonication techniques. Fundamental constraints of frequency and power ...
A genetic case-control study....
To replicate recently reported genetic loci associated with adolescent idiopathic scoliosis (AIS) in the Chinese Han population, and to determine the relationship between gene expression and the clini...
A recent study conducted in the Japanese population identified several novel susceptible loci, which might provide new insights into the etiology of AIS. However, the association of these genes with A...
A total of 1210 AIS and 2500 healthy controls were recruited for the genotyping of 12 susceptibility loci. Paraspinal muscles used for gene expression analysis were obtained from 36 AIS and 36 patient...
Four SNPs, including rs141903557, rs2467146, rs658839, and rs482012, were successfully validated. Allele C of rs141903557, allele A of rs2467146, allele G of rs658839, and allele T of single nucleotid...
Four SNPs were successfully validated as novel susceptibility loci associated with AIS in the Chinese population. Moreover, FAM46A expression was associated with the phenotype of AIS patients....
Polyadenylation of mRNAs is critical for their export from the nucleus, stability, and efficient translation. The Arabidopsis thaliana genome encodes three isoforms of canonical nuclear poly(A) polyme...
Pervasive transcription of the human genome generates an abundance of RNAs that must be processed and degraded. The nuclear RNA exosome is the main RNA degradation machinery in the nucleus. However, n...
The S. pombe orthologue of the human PAXT connection, Mtl1-Red1 Core (MTREC), is an eleven-subunit complex that targets cryptic unstable transcripts (CUTs) to the nuclear RNA exosome for degradation. ...
DNA origami has been used as biotemplates for growing a range of inorganic materials to create novel organic-inorganic hybrid nanomaterials. Recently, the solution-based silicification of DNA has been...
The FAM46 (also known as TENT5) proteins are noncanonical poly(A) polymerases (PAPs) implicated in regulating RNA stability. The regulatory mechanisms of FAM46 are poorly understood. Here, we report t...
Even lightly compromised skin may impact self-esteem and social behaviour. After intradermal infiltration, natural-origin Polynucleotides High Purification Technology (PN HPT) promote new collagen and...
Study protocol: three intradermal injections of a PN HPT-based Class III CE-marked medical device at T0 (baseline assessment and first treatment session), T1 (four weeks after baseline), and T2 (eight...
PN HPT treatment led to a meaningful and statistically significant improvement of the skin surface, firmness, pigmentation, and radiance, with no early- or late-onset adverse events and benefits persi...
Intradermal treatment with the PN HPT-based medical device led to a meaningful improvement of the skin surface, firmness, pigmentation, and radiance with complete safety. The aesthetic benefits persis...
Knee osteoarthritis (OA), an age-related degenerative disease characterized by severe pain and disability, is treated using polynucleotides (PNs) and hyaluronic acid (HA). The intra-articular (IA) inj...
Phosphopantetheine adenylyltransferase (EC. 2.7.7.3, PPAT) catalyzes the penultimate step of the multistep reaction in the coenzyme A (CoA) biosynthesis pathway. In this step, an adenylyl group from a...