Deciphering Intellectual Disability.
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N-terminal acetyltransferases : Questions médicales fréquentes
Questions fréquentes et termes MeSH associés
Diagnostic 5
#1
Comment diagnostiquer une déficience en N-terminal acetyltransferases ?
Des tests génétiques et des analyses protéomiques peuvent identifier des anomalies.
#2
Quels tests sont utilisés pour évaluer l'activité des N-terminal acetyltransferases ?
Des tests enzymatiques mesurant l'acétylation des substrats spécifiques sont utilisés.
#3
Les biopsies sont-elles nécessaires pour le diagnostic ?
Pas toujours, mais elles peuvent être utiles pour des analyses plus approfondies.
#4
Quels marqueurs biologiques indiquent une activité anormale ?
Des niveaux anormaux de protéines acétylées peuvent indiquer une dysfonction enzymatique.
#5
Peut-on utiliser l'imagerie pour le diagnostic ?
L'imagerie n'est pas couramment utilisée pour diagnostiquer des troubles enzymatiques.
Symptômes 5
#1
Quels symptômes sont associés à une déficience en N-terminal acetyltransferases ?
Les symptômes peuvent inclure des troubles neurologiques et des anomalies métaboliques.
#2
Les symptômes varient-ils selon le type d'enzyme affectée ?
Oui, chaque enzyme a des substrats spécifiques, entraînant des symptômes variés.
#3
Y a-t-il des symptômes cutanés associés ?
Certaines déficiences peuvent provoquer des éruptions cutanées ou des anomalies dermatologiques.
#4
Les troubles cognitifs sont-ils liés à ces enzymes ?
Oui, des troubles cognitifs peuvent survenir en raison de l'impact sur le métabolisme neuronal.
#5
Les symptômes apparaissent-ils dès la naissance ?
Pas toujours, certains symptômes peuvent se développer plus tard dans l'enfance ou l'adolescence.
Prévention 5
#1
Peut-on prévenir les déficiences en N-terminal acetyltransferases ?
La prévention est difficile, mais un diagnostic précoce peut aider à gérer les symptômes.
#2
Les conseils génétiques sont-ils recommandés ?
Oui, les conseils génétiques peuvent être utiles pour les familles à risque.
#3
L'alimentation peut-elle jouer un rôle préventif ?
Une alimentation équilibrée peut soutenir la santé métabolique, mais ne prévient pas directement.
#4
Des dépistages réguliers sont-ils conseillés ?
Des dépistages peuvent être recommandés pour les individus à risque ou avec des antécédents familiaux.
#5
Les vaccinations peuvent-elles aider ?
Les vaccinations ne préviennent pas les déficiences enzymatiques, mais protègent contre d'autres maladies.
Traitements 5
#1
Quels traitements sont disponibles pour les déficiences en N-terminal acetyltransferases ?
Les traitements peuvent inclure des thérapies enzymatiques et des approches diététiques.
#2
Les suppléments nutritionnels peuvent-ils aider ?
Oui, certains suppléments peuvent soutenir le métabolisme et compenser les déficiences.
#3
La thérapie génique est-elle une option ?
La thérapie génique est en recherche, mais elle pourrait offrir des solutions futures.
#4
Les médicaments peuvent-ils améliorer la fonction enzymatique ?
Certains médicaments expérimentaux visent à améliorer l'activité des enzymes déficientes.
#5
Y a-t-il des traitements symptomatiques disponibles ?
Oui, des traitements symptomatiques peuvent aider à gérer les manifestations cliniques.
Complications 5
#1
Quelles complications peuvent survenir avec ces déficiences ?
Des complications neurologiques, métaboliques et immunitaires peuvent se développer.
#2
Les complications sont-elles réversibles ?
Certaines complications peuvent être gérées, mais d'autres peuvent être permanentes.
#3
Y a-t-il un risque accru de maladies associées ?
Oui, les déficiences peuvent augmenter le risque de maladies métaboliques et neurologiques.
#4
Les complications affectent-elles la qualité de vie ?
Oui, les complications peuvent significativement impacter la qualité de vie des patients.
#5
Des soins palliatifs sont-ils nécessaires ?
Dans les cas graves, des soins palliatifs peuvent être nécessaires pour améliorer le confort.
Facteurs de risque 5
#1
Quels sont les facteurs de risque pour ces déficiences ?
Les antécédents familiaux et certaines mutations génétiques sont des facteurs de risque clés.
#2
L'âge joue-t-il un rôle dans le risque ?
Oui, certains troubles se manifestent plus fréquemment chez les jeunes enfants.
#3
Les facteurs environnementaux influencent-ils le risque ?
Des facteurs environnementaux peuvent interagir avec des prédispositions génétiques.
#4
Les maladies auto-immunes sont-elles un facteur de risque ?
Certaines maladies auto-immunes peuvent augmenter le risque de dysfonction enzymatique.
#5
Le sexe a-t-il un impact sur le risque ?
Des études montrent que certains troubles peuvent affecter différemment les sexes.
Contenu validé par Dr Olivier Menir
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 03/03/2025
Contenu vérifié selon les dernières recommandations médicales
Sous-catégories
6 au total
└─
N-terminal acetyltransferase A
N-Terminal Acetyltransferase AD063209 -
D08.811.913.050.134.423.100
└─
N-terminal acetyltransferase B
N-Terminal Acetyltransferase BD063210 -
D08.811.913.050.134.423.200
└─
N-terminal acetyltransferase C
N-Terminal Acetyltransferase CD063211 -
D08.811.913.050.134.423.300
└─
N-terminal acetyltransferase D
N-Terminal Acetyltransferase DD063212 -
D08.811.913.050.134.423.400
└─
N-terminal acetyltransferase E
N-Terminal Acetyltransferase ED063213 -
D08.811.913.050.134.423.500
└─
N-terminal acetyltransferase F
N-Terminal Acetyltransferase FD063214 -
D08.811.913.050.134.423.600
Auteurs principaux
Thomas Arnesen
11 publications dans cette catégorie
Affiliations :
- Department of Biological Sciences, University of Bergen, Bergen, Norway.
- Department of Biomedicine, University of Bergen, Bergen, Norway.
- Department of Surgery, Haukeland University Hospital, Bergen, Norway.
Publications dans "N-terminal acetyltransferases" :
-
Dynamics-function relationship in the catalytic domains of N-terminal acetyltransferases.
Computational and structural biotechnology journal 2020-03-03
-
Optimized bisubstrate inhibitors for the actin N-terminal acetyltransferase NAA80.
Frontiers in chemistry 2023-06-20
-
Using cell lysates to assess N-terminal acetyltransferase activity and impairment.
Methods in enzymology 2023-03-24
-
Expanded in vivo substrate profile of the yeast N-terminal acetyltransferase NatC.
The Journal of biological chemistry 2022-12-22
-
Co-translational, Post-translational, and Non-catalytic Roles of N-Terminal Acetyltransferases.
Molecular cell 2019-03-13
Ronen Marmorstein
5 publications dans cette catégorie
Affiliations :
- Department of Chemistry, University of Pennsylvania, Philadelphia, PA, United States; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States. Electronic address: marmor@upenn.edu.
Publications dans "N-terminal acetyltransferases" :
-
Biochemical and structural analysis of N-terminal acetyltransferases.
Methods in enzymology 2019-08-12
-
Novel Bisubstrate Inhibitors for Protein N-Terminal Acetyltransferase D.
Journal of medicinal chemistry 2021-06-10
-
Molecular role of NAA38 in thermostability and catalytic activity of the human NatC N-terminal acetyltransferase.
Structure (London, England : 1993) 2023-01-12
-
Semi-synthetic CoA-α-Synuclein Constructs Trap N-terminal Acetyltransferase NatB for Binding Mechanism Studies.
bioRxiv : the preprint server for biology 2023-04-03
-
Semi-Synthetic CoA-α-Synuclein Constructs Trap N-Terminal Acetyltransferase NatB for Binding Mechanism Studies.
Journal of the American Chemical Society 2023-06-15
Sunbin Deng
4 publications dans cette catégorie
Affiliations :
- Department of Chemistry, University of Pennsylvania, Philadelphia, Pennsylvania 19104, United States.
Publications dans "N-terminal acetyltransferases" :
-
Novel Bisubstrate Inhibitors for Protein N-Terminal Acetyltransferase D.
Journal of medicinal chemistry 2021-06-10
-
Molecular role of NAA38 in thermostability and catalytic activity of the human NatC N-terminal acetyltransferase.
Structure (London, England : 1993) 2023-01-12
-
Semi-synthetic CoA-α-Synuclein Constructs Trap N-terminal Acetyltransferase NatB for Binding Mechanism Studies.
bioRxiv : the preprint server for biology 2023-04-03
-
Semi-Synthetic CoA-α-Synuclein Constructs Trap N-Terminal Acetyltransferase NatB for Binding Mechanism Studies.
Journal of the American Chemical Society 2023-06-15
Antonis Kirmizis
4 publications dans cette catégorie
Affiliations :
- Epigenetics and Gene Regulation Laboratory, Department of Biological Sciences, University of Cyprus, Nicosia 2109, Cyprus.
Publications dans "N-terminal acetyltransferases" :
-
Biochemical Characterisation of the Short Isoform of Histone N-Terminal Acetyltransferase NAA40.
Biomolecules 2024-09-02
-
N-Terminal Acetyltransferases Are Cancer-Essential Genes Prevalently Upregulated in Tumours.
Cancers 2020-09-15
-
Histone N-terminal acetyltransferase NAA40 links one-carbon metabolism to chemoresistance.
Oncogene 2021-11-16
-
Yeast Nat4 regulates DNA damage checkpoint signaling through its N-terminal acetyltransferase activity on histone H4.
PLoS genetics 2024-10-02
Henriette Aksnes
4 publications dans cette catégorie
Affiliations :
- Department of Biomedicine, University of Bergen, Bergen, Norway. Electronic address: henriette.aksnes@uib.no.
Publications dans "N-terminal acetyltransferases" :
-
Expanded in vivo substrate profile of the yeast N-terminal acetyltransferase NatC.
The Journal of biological chemistry 2022-12-22
-
Co-translational, Post-translational, and Non-catalytic Roles of N-Terminal Acetyltransferases.
Molecular cell 2019-03-13
-
Loss of N-terminal acetyltransferase A activity induces thermally unstable ribosomal proteins and increases their turnover in Saccharomyces cerevisiae.
Nature communications 2023-07-27
-
Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly.
Genetics in medicine : official journal of the American College of Medical Genetics 2021-07-06
Owen A Collars
3 publications dans cette catégorie
Affiliations :
- Department of Biological Sciences, University of Notre Dame , Notre Dame, Indiana, USA.
- Eck Institute for Global Health, University of Note Dame , Notre Dame, Indiana, USA.
Publications dans "N-terminal acetyltransferases" :
-
An N-acetyltransferase required for ESAT-6 N-terminal acetylation and virulence in
mBio 2023-09-29
-
An N-acetyltransferase required for EsxA N-terminal protein acetylation and virulence in Mycobacterium marinum.
bioRxiv : the preprint server for biology 2023-03-14
-
N-terminal proteomics of
Microbiology resource announcements 2024-03-13
Daniel D Hu
3 publications dans cette catégorie
Affiliations :
- Department of Chemistry and Biochemistry, University of Notre Dame , Notre Dame, Indiana, USA.
Publications dans "N-terminal acetyltransferases" :
-
An N-acetyltransferase required for ESAT-6 N-terminal acetylation and virulence in
mBio 2023-09-29
-
An N-acetyltransferase required for EsxA N-terminal protein acetylation and virulence in Mycobacterium marinum.
bioRxiv : the preprint server for biology 2023-03-14
-
N-terminal proteomics of
Microbiology resource announcements 2024-03-13
Simon D Weaver
3 publications dans cette catégorie
Affiliations :
- Department of Chemistry and Biochemistry, University of Notre Dame , Notre Dame, Indiana, USA.
Publications dans "N-terminal acetyltransferases" :
-
An N-acetyltransferase required for ESAT-6 N-terminal acetylation and virulence in
mBio 2023-09-29
-
An N-acetyltransferase required for EsxA N-terminal protein acetylation and virulence in Mycobacterium marinum.
bioRxiv : the preprint server for biology 2023-03-14
-
N-terminal proteomics of
Microbiology resource announcements 2024-03-13
Matthew M Champion
3 publications dans cette catégorie
Affiliations :
- Eck Institute for Global Health, University of Note Dame , Notre Dame, Indiana, USA.
- Department of Chemistry and Biochemistry, University of Notre Dame , Notre Dame, Indiana, USA.
Publications dans "N-terminal acetyltransferases" :
-
An N-acetyltransferase required for ESAT-6 N-terminal acetylation and virulence in
mBio 2023-09-29
-
An N-acetyltransferase required for EsxA N-terminal protein acetylation and virulence in Mycobacterium marinum.
bioRxiv : the preprint server for biology 2023-03-14
-
N-terminal proteomics of
Microbiology resource announcements 2024-03-13
Patricia A Champion
3 publications dans cette catégorie
Affiliations :
- Department of Biological Sciences, University of Notre Dame , Notre Dame, Indiana, USA.
- Eck Institute for Global Health, University of Note Dame , Notre Dame, Indiana, USA.
Publications dans "N-terminal acetyltransferases" :
-
An N-acetyltransferase required for ESAT-6 N-terminal acetylation and virulence in
mBio 2023-09-29
-
An N-acetyltransferase required for EsxA N-terminal protein acetylation and virulence in Mycobacterium marinum.
bioRxiv : the preprint server for biology 2023-03-14
-
N-terminal proteomics of
Microbiology resource announcements 2024-03-13
Jonas Weidenhausen
3 publications dans cette catégorie
Affiliations :
- Heidelberg University Biochemistry Center, 69120 Heidelberg, Germany.
Publications dans "N-terminal acetyltransferases" :
-
Structural and functional characterization of the N-terminal acetyltransferase Naa50.
Structure (London, England : 1993) 2021-01-04
-
Extended N-Terminal Acetyltransferase Naa50 in Filamentous Fungi Adds to Naa50 Diversity.
International journal of molecular sciences 2022-09-16
-
HYPK controls stability and catalytic activity of the N-terminal acetyltransferase A in Arabidopsis thaliana.
Cell reports 2024-02-15
Markus Wirtz
3 publications dans cette catégorie
Affiliations :
- Centre for Organismal Studies, Heidelberg University, 69120 Heidelberg, Germany.
Publications dans "N-terminal acetyltransferases" :
-
Structural and functional characterization of the N-terminal acetyltransferase Naa50.
Structure (London, England : 1993) 2021-01-04
-
Dual lysine and N-terminal acetyltransferases reveal the complexity underpinning protein acetylation.
Molecular systems biology
-
HYPK controls stability and catalytic activity of the N-terminal acetyltransferase A in Arabidopsis thaliana.
Cell reports 2024-02-15
Irmgard Sinning
3 publications dans cette catégorie
Affiliations :
- Heidelberg University Biochemistry Center, 69120 Heidelberg, Germany. Electronic address: irmi.sinning@bzh.uni-heidelberg.de.
Publications dans "N-terminal acetyltransferases" :
-
Structural and functional characterization of the N-terminal acetyltransferase Naa50.
Structure (London, England : 1993) 2021-01-04
-
Extended N-Terminal Acetyltransferase Naa50 in Filamentous Fungi Adds to Naa50 Diversity.
International journal of molecular sciences 2022-09-16
-
HYPK controls stability and catalytic activity of the N-terminal acetyltransferase A in Arabidopsis thaliana.
Cell reports 2024-02-15
Sarah M Gardner
3 publications dans cette catégorie
Affiliations :
- Department of Biochemistry and Biophysics, Abramson Family Cancer Research Institute, Graduate Group in Biochemistry and Molecular Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, United States.
Publications dans "N-terminal acetyltransferases" :
-
Novel Bisubstrate Inhibitors for Protein N-Terminal Acetyltransferase D.
Journal of medicinal chemistry 2021-06-10
-
Molecular role of NAA38 in thermostability and catalytic activity of the human NatC N-terminal acetyltransferase.
Structure (London, England : 1993) 2023-01-12
-
Semi-Synthetic CoA-α-Synuclein Constructs Trap N-Terminal Acetyltransferase NatB for Binding Mechanism Studies.
Journal of the American Chemical Society 2023-06-15
Costas Koufaris
3 publications dans cette catégorie
Affiliations :
- Epigenetics and Gene Regulation Laboratory, Department of Biological Sciences, University of Cyprus, Nicosia 2109, Cyprus.
- Cyprus Cancer Research Institute, Nicosia 2109, Cyprus.
Publications dans "N-terminal acetyltransferases" :
-
Biochemical Characterisation of the Short Isoform of Histone N-Terminal Acetyltransferase NAA40.
Biomolecules 2024-09-02
-
N-Terminal Acetyltransferases Are Cancer-Essential Genes Prevalently Upregulated in Tumours.
Cancers 2020-09-15
-
Histone N-terminal acetyltransferase NAA40 links one-carbon metabolism to chemoresistance.
Oncogene 2021-11-16
Kris Gevaert
3 publications dans cette catégorie
Affiliations :
- VIB-UGent Center for Medical Biotechnology, Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Publications dans "N-terminal acetyltransferases" :
-
Expanded in vivo substrate profile of the yeast N-terminal acetyltransferase NatC.
The Journal of biological chemistry 2022-12-22
-
N-Terminal Proteoforms in Human Disease.
Trends in biochemical sciences 2020-01-27
-
The Final Maturation State of β-actin Involves N-terminal Acetylation by NAA80, not N-terminal Arginylation by ATE1.
Journal of molecular biology 2021-12-09
Yan Li
3 publications dans cette catégorie
Affiliations :
- College of Life Sciences, Capital Normal University, Beijing, 100048, China.
Publications dans "N-terminal acetyltransferases" :
-
The N-terminal acetyltransferase Naa50 regulates tapetum degradation and pollen development in Arabidopsis.
Plant science : an international journal of experimental plant biology 2022-01-11
-
The N-Terminal Acetyltransferase Naa50 Regulates Arabidopsis Growth and Osmotic Stress Response.
Plant & cell physiology
-
N-Terminalized Ti
Small (Weinheim an der Bergstrasse, Germany) 2023-10-12
Rasmus Ree
3 publications dans cette catégorie
Affiliations :
- Department of Biomedicine, University of Bergen, 5020 Bergen, Norway.
Publications dans "N-terminal acetyltransferases" :
-
Co-translational, Post-translational, and Non-catalytic Roles of N-Terminal Acetyltransferases.
Molecular cell 2019-03-13
-
Loss of N-terminal acetyltransferase A activity induces thermally unstable ribosomal proteins and increases their turnover in Saccharomyces cerevisiae.
Nature communications 2023-07-27
-
Mechanism of actin N-terminal acetylation.
Science advances 2020-04-08
Buyan Pan
3 publications dans cette catégorie
Affiliations :
- Department of Chemistry, University of Pennsylvania, 231 South 34(th) Street, Philadelphia, PA 19104, USA.
Publications dans "N-terminal acetyltransferases" :
-
Molecular role of NAA38 in thermostability and catalytic activity of the human NatC N-terminal acetyltransferase.
Structure (London, England : 1993) 2023-01-12
-
Semi-synthetic CoA-α-Synuclein Constructs Trap N-terminal Acetyltransferase NatB for Binding Mechanism Studies.
bioRxiv : the preprint server for biology 2023-04-03
-
Semi-Synthetic CoA-α-Synuclein Constructs Trap N-Terminal Acetyltransferase NatB for Binding Mechanism Studies.
Journal of the American Chemical Society 2023-06-15
E James Petersson
3 publications dans cette catégorie
Affiliations :
- Department of Chemistry, University of Pennsylvania, 231 South 34(th) Street, Philadelphia, PA 19104, USA; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, 421 Curie Boulevard, Philadelphia, PA 19104, USA.
Publications dans "N-terminal acetyltransferases" :
-
Molecular role of NAA38 in thermostability and catalytic activity of the human NatC N-terminal acetyltransferase.
Structure (London, England : 1993) 2023-01-12
-
Semi-synthetic CoA-α-Synuclein Constructs Trap N-terminal Acetyltransferase NatB for Binding Mechanism Studies.
bioRxiv : the preprint server for biology 2023-04-03
-
Semi-Synthetic CoA-α-Synuclein Constructs Trap N-Terminal Acetyltransferase NatB for Binding Mechanism Studies.
Journal of the American Chemical Society 2023-06-15
Sources (7604 au total)
Assessment of Specific Learning Disabilities and Intellectual Disabilities.
We review literature related to the assessment and identification of Specific Learning Disabilities (SLD) and Intellectual Disabilities (ID). SLD and ID are the only two disorders requiring psychometr...
SCAF4-related syndromic intellectual disability.
The causal link between variants in the SCAF4 gene and a syndromic form of intellectual disability (ID) was established in 2020 by Fliedner et al. Since then, no additional cases have been reported. W...
Support as described by fathers with intellectual disabilities.
Many fathers with intellectual disabilities experience some difficulties in fulfilling their parenting role due external factors. The quality of their parenting depends on various factors, including t... The organisation of the research and data analysis were carried out in accordance with Interpretative Phenomenological Analysis. Semi-structured interviews were conducted with 20 fathers with intellec... In the analysis, three interrelated themes emerged: Discrepancies between needs and provision of support; Discriminatory practices and feeling (dis)empowered; and Recognition of support.... Fathers described negative aspects of their experiences that were not conducive to strengthening paternal competences and led to a sense of loneliness. Positive aspects also emerged, indicating that f...
Why Intellectual Disability is Not Mere Difference.
A key question in disability studies, philosophy, and bioethics concerns the relationship between disability and well-being. The mere difference view, endorsed by Elizabeth Barnes, claims that physica...
Factors Affecting Disability Disclosure in Employment Setting for Individuals with Intellectual Disability.
This study aimed to increase the understanding of this disability disclosure of people with intellectual disability by examining the determinants of their disclosure at work. For this aim, six individ...
Perspectives of Adults without Disabilities on their Friendships with Individuals with Intellectual and Developmental Disabilities.
Friendships contribute to positive social outcomes such as the promotion of prosocial behaviors and social well-being and can lead to an overall healthy quality of life. Despite the importance of frie...
X-Linked intellectual disability update 2022.
Genes that are involved in the transcription process, mitochondrial function, glycoprotein metabolism, and ubiquitination dominate the list of 21 new genes associated with X-linked intellectual disabi...
Pharmacotherapy of Disruptive Behaviors in Children with Intellectual Disabilities.
Disruptive behaviors are a class of predominantly externalizing behaviors that include physical aggression, property destruction, temper outbursts, verbal aggression, and some forms of self-injurious ...
The phenomenology of mental imagery in people with intellectual disabilities.
Mental imagery is important in the development and maintenance of psychological disorders and well-being but has been neglected in people with intellectual disabilities. A detailed idiographic analysi... This qualitative study uses interpretative phenomenological analysis (IPA). It involved inclusive research methods with people with intellectual disabilities and other stakeholders (including family m... Ten individual semi-structured interviews were conducted with people with mild-moderate intellectual disabilities. Participants were opportunistically sampled through organisations providing community... People with intellectual disabilities are able to experience a range of rich and detailed mental images across all sensory modalities. Participants reported changes in affect based on mental imagery, ... The need to consider mental imagery interventions for this population, and how these can be adapted to ensure accessibility is a priority for people with intellectual disabilities and psychological di...