Results 11 to 20 of about 2,697 (198)

Modulation of Brain Cholesterol Metabolism through CYP46A1 Overexpression for Rett Syndrome [PDF]

Pharmaceutics
Rett syndrome (RTT) is a rare neurodevelopmental disorder caused by mutation in the X-linked gene methyl-CpG-binding protein 2 (Mecp2), a ubiquitously expressed transcriptional regulator.
Emilie Audouard, Nicolas Khefif, Béatrix Gillet-Legrand, Fanny Nobilleau, Ouafa Bouazizi, Serena Stanga, Gaëtan Despres, Sandro Alves, Antonin Lamazière, Nathalie Cartier, Françoise Piguet   +10 more
doaj   +4 more sources

Is it possible to improve memory function by upregulation of the cholesterol 24S-hydroxylase (CYP46A1) in the brain? [PDF]

PLoS ONE, 2013
We previously described a heterozygous mouse model overexpressing human HA-tagged 24S-hydroxylase (CYP46A1) utilizing a ubiquitous expression vector. In this study, we generated homozygotes of these mice with circulating levels of 24OH 30-60% higher than
Silvia Maioli, Ann Båvner, Zeina Ali, Maura Heverin, Muhammad-Al-Mustafa Ismail, Elena Puerta, Maria Olin, Ahmed Saeed, Marjan Shafaati, Paolo Parini, Angel Cedazo-Minguez, Ingemar Björkhem, Ingemar Björkhem   +12 more
doaj   +4 more sources

Association of angiotensin-converting enzyme, CYP46A1 genes polymorphism with senile cataract

Oman Journal of Ophthalmology, 2017
Background: Senile cataract is the most common type of cataract characterized by gradual progressive thickening of the lens of the eye. Previously, many studies investigated the association between genetic polymorphism and senile cataract.
Syed Tasleem Raza, Shania Abbas, Anu Chandra, Luxmi Singh, Saliha Rizvi, Farzana Mahdi   +5 more
doaj   +3 more sources

Unbiased insights into the multiplicity of the CYP46A1 brain effects in 5XFAD mice treated with low dose-efavirenz [PDF]

Journal of Lipid Research
Cytochrome P450 46A1 (CYP46A1) is the CNS-specific cholesterol 24-hydroxylase that controls cholesterol elimination and turnover in the brain. In mouse models, pharmacologic CYP46A1 activation with low-dose efavirenz or by gene therapy mitigates the ...
Natalia Mast, Makaya Butts, Irina A. Pikuleva   +2 more
doaj   +2 more sources

SNPs in cytochromes P450 catalyzing cholesterol degradation in brain are associated with Parkinson’s disease [PDF]

Frontiers in Pharmacology
Besides being an essential structural component of plasma membranes and the precursor of many functional compounds and signaling molecules, cholesterol was also proposed to play a role in the etiology and/or manifestation of Parkinson’s disease (PD ...
Polina Petkova-Kirova, Polina Petkova-Kirova, Anastasia Kolchina, Stephan Baas, Gudrun Wagenpfeil, Marcus Michael Unger, Julia Maria Schulze-Hentrich, Rita Bernhardt   +7 more
doaj   +2 more sources

Neuronal Cholesterol Accumulation Induced by Cyp46a1 Down-Regulation in Mouse Hippocampus Disrupts Brain Lipid Homeostasis

Frontiers in Molecular Neuroscience, 2017
Impairment in cholesterol metabolism is associated with many neurodegenerative disorders including Alzheimer's disease (AD). However, the lipid alterations underlying neurodegeneration and the connection between altered cholesterol levels and AD remains ...
Sophie Ayciriex, Sandro Alves, Mathieu Gaudin   +2 more
exaly   +3 more sources

Construction and verification of an endoplasmic reticulum stress-related prognostic model for endometrial cancer based on WGCNA and machine learning algorithms [PDF]

Frontiers in Oncology
BackgroundEndoplasmic reticulum (ER) stress arises from the accumulation of misfolded or unfolded proteins within the cell and is intricately linked to the initiation and progression of various tumors and their therapeutic strategies.
Shanshan Lin, Changqiang Wei, Yiyun Wei, Jiangtao Fan   +3 more
doaj   +2 more sources

CYP46A1-dependent and independent effects of efavirenz treatment [PDF]

Brain Communications, 2020
AbstractCholesterol excess in the brain is mainly disposed via cholesterol 24-hydroxylation catalysed by cytochrome P450 46A1, a CNS-specific enzyme. Cytochrome P450 46A1 is emerging as a promising therapeutic target for various brain diseases with both enzyme activation and inhibition having therapeutic potential.
Natalia Mast, Nicole El-Darzi, Alexey M Petrov, Young Li, Irina A Pikuleva   +4 more
openaire   +2 more sources

Bioenergetics and lipid metabolism in Alzheimer's disease: From cell biology to systemic health. [PDF]

J Intern Med
Abstract Alzheimer's disease (AD) is a complex neurodegenerative disorder characterized by progressive cognitive decline. Although amyloid‐β and tau pathologies remain central to our understanding of AD, growing evidence suggests that disrupted lipid metabolism and impaired bioenergetics are closely linked to these hallmark features. Genetic, lipidomic
Maioli S, Nalvarte I, Ankarcrona M, Schultzberg M, Zuloaga KL, Goikolea J, Visser PJ, De Strooper B, Winblad B, Pizzo P, Williams PA, Rodriguez-Rodriguez P, Naia L.   +12 more
europepmc   +2 more sources

The multifaceted roles of the transcription factor <i>SP1</i> in the pathogenesis of Alzheimer's disease: From molecular regulation to therapeutic targets. [PDF]

Alzheimers Dement (N Y)
Abstract Alzheimer's disease (AD) is driven by interrelated pathologies, including the accumulation of amyloid β (Aβ), tau pathology, chronic neuroinflammation, and oxidative stress (OS). These pathological processes collectively lead to progressive neurodegeneration.
Lv Z, Liu X, Huang Q, Liu H, Xu Z, Xu P.
europepmc   +2 more sources