Brain Cholesterol Biosynthetic Pathway Is Altered in a Preclinical Model of Fragile X Syndrome.
3-Hydroxy 3-methylglutaryl Coenzyme A reductase
Fmr1-Δexon 8 rat
Fragile X Syndrome
brain
cholesterol
liver
low-density lipoprotein receptor
plasma
prenylated proteins
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
21 Mar 2022
21 Mar 2022
Historique:
received:
27
12
2021
revised:
08
03
2022
accepted:
18
03
2022
entrez:
25
3
2022
pubmed:
26
3
2022
medline:
9
4
2022
Statut:
epublish
Résumé
Fragile X Syndrome (FXS) is the most frequent form of inherited X-linked pathology, associated with an intellectual and developmental disability, and currently considered the first monogenic cause of autism spectrum disorder (ASD). Low levels of total cholesterol reported in the serum of FXS patients, and evidence that FMRP targets a subset of mRNAs encoding proteins of lipid synthesis and transport suggests that the cholesterol metabolism impairments could be involved in FXS. Thus, the aim of the presented work was to investigate the modulations of the cholesterol biosynthetic pathway and its end-products in a recently developed
Identifiants
pubmed: 35328827
pii: ijms23063408
doi: 10.3390/ijms23063408
pmc: PMC8955806
pii:
doi:
Substances chimiques
Fmr1 protein, rat
0
Fragile X Mental Retardation Protein
139135-51-6
Cholesterol
97C5T2UQ7J
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Ministry of Education, Universities and Research
ID : 2017SXEXT5
Organisme : Jerome Lejeune Foundation Research
ID : 1674
Organisme : Miur
ID : ARTICOLO 1, COMMI 314-337 LEGGE 232/2016
Organisme : Together Strong NPC-Foundation
ID : 2/2020
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