questionsmedicales.fr
Enzymes et coenzymes
Enzymes
Transferases
Glycosyltransferase
Pentosyltransferases
ADP ribose transferases
ADP ribose transferases : Questions médicales fréquentes
Termes MeSH sélectionnés :
Diagnostic
5
Marqueurs biologiques
ADP-ribose
Tests enzymatiques
Enzymes
Réparation de l'ADN
Troubles métaboliques
Imagerie médicale
Enzymes
Symptômes
5
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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,
"acceptedAnswer": {
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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",
"text": "Des anomalies cutanées peuvent apparaître en raison de troubles métaboliques liés aux enzymes."
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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."
}
},
{
"@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."
}
},
{
"@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."
}
},
{
"@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": {
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"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": {
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"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": {
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"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" :
The aim of this study was to describe the disease and treatment and to alert health professionals for the identification of signs and symptoms and the need for an early diagnosis in patients with xero...
An 8-year-old male patient was referred to the Joana de Gusmão Hospital (HIJG) in 2021 for evaluation and specialized care. Previously, the child was followed in his place of origin by oncologic and p...
The XP is a rare disease of autosomal recessive inheritance whose mechanism comes from failure in the DNA repair by exposure to ultraviolet rays, resulting in lesions on the skin and mucous membranes....
To describe cellular alterations detected by impression cytology of the ocular surface in patients with xeroderma pigmentosum. The secondary objective was to assess the reliability of impression cytol...
Patients with xeroderma pigmentosum underwent a single-day complete ophthalmological examination and impression cytology for ocular surface evaluation using 13 mm diameter mixed cellulose esters membr...
Of the 42 patients examined, impression cytology was performed in 62 eyes of 34 participants (65% females). The mean age of patients was 29.6 ± 17 years (range 7-62). Fifteen eyes had a clinical diagn...
Impression cytology has a moderate positive predictive value for the diagnosis of ocular surface squamous neoplasia in patients with xeroderma pigmentosum. However, the lack of detection of atypical c...
Xeroderma pigmentosum (XP) may cause tissue deformation in patients who have undergone oral cancer surgery requiring resection of any part of the mandible. Oral rehabilitation is a pivotal factor in t...
Xeroderma pigmentosum (XP) is a DNA repair disease that predisposes to early skin cancers as cutaneous melanoma. Melanoma microenvironment contains inflammatory mediators, which would be interesting b...
Xeroderma pigmentosum (XP) is a rare genetic disease characterized by a hypersensitivity to ultraviolet (UV) radiation leading to defective deoxyribonucleic acid (DNA) repair and predisposing to skin ...
Whereas metronidazole-induced hepatotoxicity is quite rare in the general population, in individuals carrying a nucleotide excision repair disorder, namely Cockayne syndrome, there is a high risk of d...
We report the case of a 44-year-old man, affected by xeroderma pigmentosum, who was admitted to the hospital presenting aspiration pneumoniae caused by worsening dysphagia and with severe hepatotoxici...
Acute hepatitis, which was leading to acute liver failure, occurred during antibiotic treatment with metronidazole and ceftazidime with an elevation of liver enzymes consistent with hepatocellular dam...
Hydration with glucose 5% solution, pantoprazole and vitamin K were administered, meanwhile other causes of hepatitis were ruled out and the ongoing antibiotic treatment was stopped suspecting a drug-...
Liver function nearly completely recovered 1 month later with a first rapid improvement, within few days, of aminotransferases and coagulation studies, and slower of cholestatic enzymes....
We describe the first case available in the literature of hepatotoxicity associated with metronidazole treatment in a xeroderma pigmentosum patient. Clinicians therefore, based on this report and acco...
Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder of UV radiation-induced damage repair that is characterized by photosensitivity and a propensity for developing, among many others, sk...
A systematic review was conducted through a literature search of online databases PubMed, Cochrane Library, SciELO, and Google Scholar. Search terms were "Xeroderma pigmentosum", "XP", "XPC", "Nucleot...
After 504 abstracts screening, 13 full-text articles were assessed for eligibility, and 3 of them were excluded. Ten articles were selected for qualitative assessment....
Patients with XP usually suffer shorter lives due to skin cancer and neurodegenerative disease. Deletion/alteration of a distinct gene allele can produce different types of cancer. The XPC and XP-E va...
A 17-year-old female Korean patient (XP115KO) was previously diagnosed with Xeroderma pigmentosum group C (XPC) by Direct Sanger sequencing, which revealed a homozygous nonsense mutation in the...
We report a Chinese consanguineous family with a variant type of xeroderma pigmentosum (XPV), and identified one novel mutation in the patient. Our study expands the mutational spectrum of XPV. Click ...
Xeroderma pigmentosum is a rare autosomal recessive genodermatoses characterized by a deficiency in nucleotide excision repair. Erythropoietic protoporphyria is a rare inherited metabolic disease caus...