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Enzymes et coenzymes
Enzymes
Transferases
Glycosyltransferase
Pentosyltransferases
ADP ribose transferases
ADP ribose transferases : Questions médicales fréquentes
Termes MeSH sélectionnés :
Gain of Function Mutation
Diagnostic
5
Marqueurs biologiques
ADP-ribose
Tests enzymatiques
Enzymes
Réparation de l'ADN
Troubles métaboliques
Imagerie médicale
Enzymes
Symptômes
5
Maladies neurodégénératives
Cancer
Troubles cognitifs
Mémoire
Enzymes
Variabilité des symptômes
Anomalies cutanées
Troubles métaboliques
Asymptomatique
Dysfonction enzymatique
Prévention
5
Prévention
Mode de vie sain
Exercice physique
Santé cellulaire
Traitements
5
Thérapie génique
Médicaments ciblés
Essais cliniques
Inhibiteurs
Médecine personnalisée
Dysfonctionnement enzymatique
Gestion des symptômes
Traitements
Complications
5
Cancers
Maladies auto-immunes
Maladies cardiovasculaires
Dysfonctionnement enzymatique
Qualité de vie
Complications
Antécédents médicaux
Prévisibilité
Facteurs de risque
5
Facteurs génétiques
Toxines
Vieillissement
Facteurs de risque
Antécédents familiaux
Risque
Alimentation
Antioxydants
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"name": "Comment diagnostiquer une dysfonction des ADP ribose transferases ?",
"position": 1,
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"text": "Des tests génétiques et des analyses biochimiques peuvent être utilisés pour évaluer leur activité."
}
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{
"@type": "Question",
"name": "Quels marqueurs biochimiques sont associés aux ADP ribose transferases ?",
"position": 2,
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"@type": "Question",
"name": "Y a-t-il des tests spécifiques pour les ADP ribose transferases ?",
"position": 3,
"acceptedAnswer": {
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"text": "Des tests enzymatiques spécifiques peuvent mesurer l'activité des ADP ribose transferases."
}
},
{
"@type": "Question",
"name": "Quels symptômes peuvent indiquer un problème avec ces enzymes ?",
"position": 4,
"acceptedAnswer": {
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"text": "Des anomalies dans la réparation de l'ADN ou des troubles métaboliques peuvent survenir."
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{
"@type": "Question",
"name": "Les tests d'imagerie sont-ils utiles pour ces enzymes ?",
"position": 5,
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"text": "Non, les tests d'imagerie ne sont pas utilisés pour diagnostiquer les dysfonctionnements enzymatiques."
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"@type": "Question",
"name": "Quels symptômes sont liés à une déficience en ADP ribose transferases ?",
"position": 6,
"acceptedAnswer": {
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"text": "Des troubles de la réparation de l'ADN, des maladies neurodégénératives et des cancers."
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"@type": "Question",
"name": "Peut-on observer des symptômes neurologiques ?",
"position": 7,
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"@type": "Question",
"name": "Les symptômes varient-ils selon le type d'enzyme ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, différents types d'ADP ribose transferases peuvent entraîner des symptômes variés."
}
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{
"@type": "Question",
"name": "Y a-t-il des symptômes cutanés associés ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
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{
"@type": "Question",
"name": "Les symptômes sont-ils toujours présents ?",
"position": 10,
"acceptedAnswer": {
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"text": "Non, certains patients peuvent être asymptomatiques malgré une dysfonction enzymatique."
}
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"@type": "Question",
"name": "Peut-on prévenir les dysfonctionnements des ADP ribose transferases ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une alimentation équilibrée et un mode de vie sain peuvent réduire les risques."
}
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"@type": "Question",
"name": "Y a-t-il des facteurs environnementaux à éviter ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'exposition à des toxines et à des radiations peut affecter l'activité enzymatique."
}
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{
"@type": "Question",
"name": "Les dépistages réguliers sont-ils recommandés ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des dépistages peuvent être utiles pour les personnes à risque élevé de maladies associées."
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"@type": "Question",
"name": "L'exercice physique aide-t-il à prévenir ces dysfonctionnements ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'exercice régulier peut améliorer la santé cellulaire et enzymatique."
}
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{
"@type": "Question",
"name": "Les vaccinations ont-elles un rôle préventif ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, les vaccinations ne sont pas directement liées à la prévention des dysfonctionnements enzymatiques."
}
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{
"@type": "Question",
"name": "Quels traitements existent pour les dysfonctionnements enzymatiques ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des thérapies géniques et des médicaments ciblés peuvent être envisagés."
}
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{
"@type": "Question",
"name": "Les suppléments peuvent-ils aider ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des suppléments d'ADP-ribose peuvent être envisagés, mais leur efficacité n'est pas prouvée."
}
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{
"@type": "Question",
"name": "Y a-t-il des traitements expérimentaux ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des essais cliniques sur des inhibiteurs spécifiques des ADP ribose transferases sont en cours."
}
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{
"@type": "Question",
"name": "Les traitements sont-ils personnalisés ?",
"position": 19,
"acceptedAnswer": {
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"text": "Oui, les traitements peuvent être adaptés en fonction du type de dysfonctionnement enzymatique."
}
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{
"@type": "Question",
"name": "Les traitements sont-ils curatifs ?",
"position": 20,
"acceptedAnswer": {
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"text": "Non, la plupart des traitements visent à gérer les symptômes plutôt qu'à guérir la condition."
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"@type": "Question",
"name": "Quelles complications peuvent survenir avec ces dysfonctionnements ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des cancers, des maladies auto-immunes et des troubles neurologiques peuvent se développer."
}
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"@type": "Question",
"name": "Les complications sont-elles réversibles ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être gérées, mais d'autres peuvent être irréversibles."
}
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"@type": "Question",
"name": "Y a-t-il un risque accru de maladies cardiovasculaires ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des études montrent un lien entre dysfonctionnement enzymatique et maladies cardiovasculaires."
}
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{
"@type": "Question",
"name": "Les complications affectent-elles la qualité de vie ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les complications peuvent significativement altérer la qualité de vie des patients."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles prévisibles ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être anticipées en fonction des antécédents médicaux."
}
},
{
"@type": "Question",
"name": "Quels sont les principaux facteurs de risque ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs génétiques, l'exposition à des toxines et le mode de vie jouent un rôle."
}
},
{
"@type": "Question",
"name": "L'âge est-il un facteur de risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le vieillissement peut affecter l'activité des ADP ribose transferases."
}
},
{
"@type": "Question",
"name": "Le stress a-t-il un impact sur ces enzymes ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le stress oxydatif peut altérer l'activité des ADP ribose transferases."
}
},
{
"@type": "Question",
"name": "Les antécédents familiaux influencent-ils le risque ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des antécédents familiaux de maladies liées peuvent augmenter le risque."
}
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"@type": "Question",
"name": "L'alimentation joue-t-elle un rôle ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, une alimentation riche en antioxydants peut réduire le risque de dysfonctionnement enzymatique."
}
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}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 24/04/2025
Contenu vérifié selon les dernières recommandations médicales
11 publications dans cette catégorie
Affiliations :
Department of Biochemistry and Molecular Biology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA.
McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
5 publications dans cette catégorie
Affiliations :
Department of Biochemistry and Molecular Biology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA.
Department of Chemistry, Krieger School of Arts and Sciences, Johns Hopkins University, Baltimore, MD 21218, USA.
Publications dans "ADP ribose transferases" :
5 publications dans cette catégorie
Affiliations :
Department of Biochemistry and Molecular Biology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205.
Publications dans "ADP ribose transferases" :
4 publications dans cette catégorie
Affiliations :
Department of Pharmacology and Pharmaceutical Sciences, School of Pharmacy, University of Southern California, Los Angeles, California 90089, United States.
Department of Chemistry, Dornsife College of Letters, Arts and Sciences, University of Southern California, Los Angeles, California 90089, United States.
Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, California 90089, United States.
Research Center for Liver Diseases, University of Southern California, Los Angeles, California 90089, United States.
Publications dans "ADP ribose transferases" :
4 publications dans cette catégorie
Affiliations :
Program in Cell, Molecular, Developmental Biology, and Biophysics, Johns Hopkins University, Baltimore, Maryland 21218, United States.
Department of Biophysics, Johns Hopkins University, Baltimore, Maryland 21218, United States.
Physics Frontier Center (Center for the Physics of Living Cells), University of Illinois at Urbana-Champaign, Urbana, Illinois 61801, United States.
Publications dans "ADP ribose transferases" :
3 publications dans cette catégorie
Affiliations :
Laboratory of Signaling and Gene Regulation, Cecil H. and Ida Green Center for Reproductive Biology Sciences, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Section of Laboratory Research, Department of Obstetrics and Gynecology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Electronic address: Cristel.Camacho@utsouthwestern.edu.
Publications dans "ADP ribose transferases" :
3 publications dans cette catégorie
Affiliations :
Department of Neurology, Johns Hopkins University, School of Medicine, Baltimore, MD 21205, USA.
Publications dans "ADP ribose transferases" :
3 publications dans cette catégorie
Affiliations :
Department of Neurology, Johns Hopkins University, School of Medicine, Baltimore, MD 21205, USA.
Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University, School of Medicine, Baltimore, MD 21205, USA.
Department of Neuroscience, Johns Hopkins University, School of Medicine, Baltimore, MD 21205, USA.
Publications dans "ADP ribose transferases" :
3 publications dans cette catégorie
Affiliations :
Department of Neurology, Johns Hopkins University, School of Medicine, Baltimore, MD 21205, USA.
Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University, School of Medicine, Baltimore, MD 21205, USA.
Department of Neuroscience, Johns Hopkins University, School of Medicine, Baltimore, MD 21205, USA.
Publications dans "ADP ribose transferases" :
3 publications dans cette catégorie
Affiliations :
Leiden Institute of Chemistry, Leiden University, Einsteinweg 55, 2333 CC Leiden, The Netherlands. filippov@chem.leidenuniv.nl.
Publications dans "ADP ribose transferases" :
3 publications dans cette catégorie
Publications dans "ADP ribose transferases" :
2 publications dans cette catégorie
Affiliations :
UPMC Cancer Institute and Department of Pharmacology and Chemical Biology at the University of Pittsburgh, Hillman Cancer Center, 5115 Centre Avenue, Pittsburgh, PA, 15213, USA. elf115@pitt.edu.
Publications dans "ADP ribose transferases" :
2 publications dans cette catégorie
Affiliations :
Molecular Toxicology Group, University of Konstanz, Konstanz, Germany.
Publications dans "ADP ribose transferases" :
2 publications dans cette catégorie
Affiliations :
Laboratory of Signaling and Gene Regulation, Cecil H. and Ida Green Center for Reproductive Biology Sciences, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Section of Laboratory Research, Department of Obstetrics and Gynecology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Publications dans "ADP ribose transferases" :
2 publications dans cette catégorie
Affiliations :
Laboratory of Signaling and Gene Regulation, Cecil H. and Ida Green Center for Reproductive Biology Sciences, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Section of Laboratory Research, Department of Obstetrics and Gynecology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Electronic address: Lee.Kraus@utsouthwestern.edu.
Publications dans "ADP ribose transferases" :
2 publications dans cette catégorie
Affiliations :
Department of Pharmacology and Pharmaceutical Sciences, School of Pharmacy, University of Southern California, Los Angeles, California 90089, United States.
Publications dans "ADP ribose transferases" :
2 publications dans cette catégorie
Affiliations :
Department of Pharmacology and Pharmaceutical Sciences, School of Pharmacy, University of Southern California, Los Angeles, California 90089, United States.
Publications dans "ADP ribose transferases" :
2 publications dans cette catégorie
Affiliations :
Department of Pharmacology and Pharmaceutical Sciences, School of Pharmacy, University of Southern California, Los Angeles, California 90089, United States.
Publications dans "ADP ribose transferases" :
2 publications dans cette catégorie
Affiliations :
Department of Biosciences and Nutrition, Karolinska Institute, Huddinge, Sweden.
Publications dans "ADP ribose transferases" :
2 publications dans cette catégorie
Affiliations :
Department of Biochemistry and Molecular Biology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA.
Publications dans "ADP ribose transferases" :
Rice spotted-leaf mutants are ideal materials to study the molecular mechanism underlying programmed cell death and disease resistance in plants....
Lung cancer is a lethal malignancy lacking effective therapies. Emerging evidence suggests that epigenetic enzyme mutations are closely related to the malignant phenotype of lung cancer. Here, we iden...
Gain-of-function mutations in the STAT1 gene have been initially associated with chronic mucocutaneous candidiasis. However, further research has shown that STAT1 GOF variants may increase susceptibil...
The JAK/STAT signaling pathway plays a key role in cytokine signaling and is involved in development, immunity, and tumorigenesis for nearly any cell. At first glance, the JAK/STAT signaling pathway a...
Somatic mutations occurring on key enzymes are extensively studied and targeted therapies are developed with clinical promises. However, context-dependent enzyme function through distinct substrates c...
Loss-of-function variants in SCN1A cause Dravet syndrome, the most common genetic developmental and epileptic encephalopathy (DEE). However, emerging evidence suggests separate entities of SCN1A-relat...
Individuals carrying the recurrent SCN1A p.R1636Q variant were identified through diagnostic testing. Whole cell voltage-clamp electrophysiological recording in HEK-293 T cells was performed to compar...
All four individuals had an early onset DEE characterized by focal tonic seizures and additional seizure types starting in the first few weeks of life. Electrophysiological analysis showed a mixed gai...
The recurrent SCN1A p.R1636Q variant causes a clinical entity with a wider clinical spectrum than previously reported, characterized by neonatal onset epilepsy and absence of prominent movement disord...
Sleep apnea is a common disorder that represents a global public health burden. KCNK3 encodes TASK-1, a K...
Orbital cavernous venous malformation (OCVM) is a sporadic vascular anomaly of uncertain etiology characterized by abnormally dilated vascular channels. Here, we identify a somatic missense mutation, ...
Activated phosphoinositide 3 kinase (PI3K) -delta syndrome (APDS) is an inborn error of immunity with variable clinical phenotype of immunodeficiency and immune dysregulation and caused by gain-of-fun...
To explore unique B cell subsets and the pathomechanisms driving B cell dysregulation beyond the transitional B cell stage in APDS....
Clinical and immunological data was collected from 24 patients with APDS. In five cases, we performed an in-depth analysis of B cell phenotypes and cultured purified naïve B cells to evaluate their su...
The patients had increased B cell sizes and higher proportions of IgM...
The present study suggests additional mechanistic insight into B cell pathology of APDS: (1) decreased peripheral B cell numbers may be due to the increased death of naïve B cells; (2) larger B cell s...
Gain-of-function mutations of dynamin-2, a mechano-GTPase that remodels membrane and actin filaments, cause centronuclear myopathy (CNM), a congenital disease that mainly affects skeletal muscle tissu...