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Page 1
WDR45, one gene associated with multiple neurodevelopmental disorders.
Cong Y, So V, Tijssen MAJ, Verbeek DS, Reggiori F, Mauthe M. Cong Y, et al. Autophagy. 2021 Dec;17(12):3908-3923. doi: 10.1080/15548627.2021.1899669. Epub 2021 Apr 12. Autophagy. 2021. PMID: 33843443 Free PMC article. Review.
The precise cellular function of WDR45 is still largely unknown, but deletions or conventional variants in WDR45 can lead to macroautophagy/autophagy defects, malfunctioning mitochondria, endoplasmic reticulum stress and unbalanced iron homeostasis, suggesting that this pr …
The precise cellular function of WDR45 is still largely unknown, but deletions or conventional variants in WDR45 can lead to macroautophagy/ …
Astrocytes in heavy metal neurotoxicity and neurodegeneration.
Li B, Xia M, Zorec R, Parpura V, Verkhratsky A. Li B, et al. Brain Res. 2021 Feb 1;1752:147234. doi: 10.1016/j.brainres.2020.147234. Epub 2021 Jan 5. Brain Res. 2021. PMID: 33412145 Free PMC article. Review.
In particular, we focus on astroglial mechanisms of iron-induced neurotoxicity. Iron deposits in the brain are detected in main neurodegenerative diseases, such as Alzheimer's disease, Parkinson's disease and amyotrophic lateral sclerosis. Accumulation
In particular, we focus on astroglial mechanisms of iron-induced neurotoxicity. Iron deposits in the brain are detected …
MRI of neurodegeneration with brain iron accumulation.
Lehéricy S, Roze E, Goizet C, Mochel F. Lehéricy S, et al. Curr Opin Neurol. 2020 Aug;33(4):462-473. doi: 10.1097/WCO.0000000000000844. Curr Opin Neurol. 2020. PMID: 32657887 Review.
PURPOSE OF REVIEW: The diagnosis of neurodegeneration with brain iron accumulation (NBIA) typically associates various extrapyramidal and pyramidal features, cognitive and psychiatric symptoms with bilateral hypointensities in the globus pallidus on …
PURPOSE OF REVIEW: The diagnosis of neurodegeneration with brain iron accumulation (NBIA) typically associates v …
On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation.
Tello C, Darling A, Lupo V, Pérez-Dueñas B, Espinós C. Tello C, et al. Clin Genet. 2018 Apr;93(4):731-740. doi: 10.1111/cge.13057. Epub 2017 Sep 25. Clin Genet. 2018. PMID: 28542792 Review.
Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited heterogeneous neurodegenerative rare disorders. These patients present with dystonia, spasticity, parkinsonism and neuropsychiatric disturbances, along with brain magn
Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited heterogeneous neurodegenerative ra
Neurodegeneration with brain iron accumulation.
Dusek P, Schneider SA. Dusek P, et al. Curr Opin Neurol. 2012 Aug;25(4):499-506. doi: 10.1097/WCO.0b013e3283550cac. Curr Opin Neurol. 2012. PMID: 22691760 Review.
PURPOSE OF REVIEW: Recent years have witnessed the discoveries of several genes causing neurodegeneration with brain iron accumulation (NBIA) and subsequently their novel classification scheme was suggested. ...RECENT FINDINGS: Most recently, mutations …
PURPOSE OF REVIEW: Recent years have witnessed the discoveries of several genes causing neurodegeneration with brain iron
Iron and ferroptosis: A still ill-defined liaison.
Doll S, Conrad M. Doll S, et al. IUBMB Life. 2017 Jun;69(6):423-434. doi: 10.1002/iub.1616. Epub 2017 Mar 9. IUBMB Life. 2017. PMID: 28276141 Free article. Review.
Ferroptosis is a recently described form of regulated necrotic cell death, which appears to contribute to a number of diseases, such as tissue ischemia/reperfusion injury, acute renal failure, and neurodegeneration. A hallmark of ferroptosis is iron-dependent lipid …
Ferroptosis is a recently described form of regulated necrotic cell death, which appears to contribute to a number of diseases, such as tiss …
Neurodegeneration with brain iron accumulation.
Gregory A, Hayflick SJ. Gregory A, et al. Folia Neuropathol. 2005;43(4):286-96. Folia Neuropathol. 2005. PMID: 16416393 Free PMC article. Review.
Neurodegeneration with brain iron accumulation (NBIA) describes a group of progressive extrapyramidal disorders with radiographic evidence of focal iron accumulation in the brain, usually in the basal ganglia. ...In addition, a spe
Neurodegeneration with brain iron accumulation (NBIA) describes a group of progressive extrapyramidal disorders
Neurodegeneration with Brain Iron Accumulation: Clinicoradiological Approach to Diagnosis.
Amaral LL, Gaddikeri S, Chapman PR, Roy R, Gaddikeri RS, Marussi VH, Bag AK. Amaral LL, et al. J Neuroimaging. 2015 Jul-Aug;25(4):539-51. doi: 10.1111/jon.12195. Epub 2014 Dec 24. J Neuroimaging. 2015. PMID: 25545045 Review.
Discovery of genetic abnormalities associated with neurodegeneration with brain iron accumulation (NBIA) has led to use of a genetic-based NBIA classification schema. ...
Discovery of genetic abnormalities associated with neurodegeneration with brain iron accumulation (NBIA) has led …
Iron toxicity in neurodegeneration.
Núñez MT, Urrutia P, Mena N, Aguirre P, Tapia V, Salazar J. Núñez MT, et al. Biometals. 2012 Aug;25(4):761-76. doi: 10.1007/s10534-012-9523-0. Epub 2012 Feb 9. Biometals. 2012. PMID: 22318507 Review.
Neurons from brain areas sensitive to degeneration accumulate iron with age and thus are subjected to an ever increasing oxidative stress with the accompanying cellular damage. ...Here, we describe the chemical and thermodynamic peculiarities of iro
Neurons from brain areas sensitive to degeneration accumulate iron with age and thus are subjected to an ever in …
Pallidal degenerations and related disorders: an update.
Jellinger KA. Jellinger KA. J Neural Transm (Vienna). 2022 Jun;129(5-6):521-543. doi: 10.1007/s00702-021-02392-2. Epub 2021 Aug 7. J Neural Transm (Vienna). 2022. PMID: 34363531 Review.
One of the latter, and both PPND and DRPLA are particular subcortical 4-R tauopathies, related to progressive supranuclear palsy (PSP), corticobasal degeneration (CBD) and frontotemporal lobe degeneration-17 (FTLD-17), while others show additional 3-R and …
One of the latter, and both PPND and DRPLA are particular subcortical 4-R tauopathies, related to progressive supranuclear palsy (PSP …
48 results