Clinical and Preclinical Evidence for M
Apneas
Brainstem
Cognition
Gsk3β
M1 mAChR
Rett syndrome
Journal
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics
ISSN: 1878-7479
Titre abrégé: Neurotherapeutics
Pays: United States
ID NLM: 101290381
Informations de publication
Date de publication:
07 2022
07 2022
Historique:
accepted:
24
05
2022
pubmed:
8
6
2022
medline:
26
10
2022
entrez:
7
6
2022
Statut:
ppublish
Résumé
Rett syndrome (RTT) is a neurodevelopmental disorder that is characterized by developmental regression, loss of communicative ability, stereotyped hand wringing, cognitive impairment, and central apneas, among many other symptoms. RTT is caused by loss-of-function mutations in a methyl-reader known as methyl-CpG-binding protein 2 (MeCP2), a protein that links epigenetic changes on DNA to larger chromatin structure. Historically, target identification for RTT has relied heavily on Mecp2 knockout mice; however, we recently adopted the alternative approach of performing transcriptional profiling in autopsy samples from RTT patients. Through this mechanism, we identified muscarinic acetylcholine receptors (mAChRs) as potential therapeutic targets. Here, we characterized a cohort of 40 temporal cortex samples from individuals with RTT and quantified significantly decreased levels of the M
Identifiants
pubmed: 35670902
doi: 10.1007/s13311-022-01254-3
pii: 10.1007/s13311-022-01254-3
pmc: PMC9587166
doi:
Substances chimiques
Methyl-CpG-Binding Protein 2
0
Receptors, N-Methyl-D-Aspartate
0
Glycogen Synthase Kinase 3 beta
EC 2.7.11.1
Receptors, Muscarinic
0
Chromatin
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
1340-1352Subventions
Organisme : NINDS NIH HHS
ID : R01 NS112171
Pays : United States
Organisme : NIMH NIH HHS
ID : K01 MH112983
Pays : United States
Organisme : NIMH NIH HHS
ID : F31 MH113259
Pays : United States
Organisme : NICHD NIH HHS
ID : P50 HD103537
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM007628
Pays : United States
Organisme : NIMH NIH HHS
ID : F31 MH119699
Pays : United States
Informations de copyright
© 2022. The Author(s).
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