Results 41 to 50 of about 5,661,504 (280)

Protective effect of n-acetyl-L-cysteine and rosuvastatin against oxidative stress in fibroblasts from asymptomatic patients with X-ALD: a preliminary study

Clinical and Biomedical Research, 2021
Introduction: Several studies in the literature have evaluated the role of oxidative stress and adjuvant therapies for X-linked adrenoleukodystrophy (X-ALD).
Desiree Marchetti, Graziela S Ribas, Bruna Donida, Verônica Brito, Dinara J Moura, Daniella M Coelho, Andryele Z Machado, Rejane G Kessler, Adriana S Coitinho, Carmen R Vargasa   +9 more
doaj  

Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania

International Journal of Neonatal Screening, 2022
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. It results from pathogenic variants in ABCD1, which encodes the peroxisomal very-long-chain fatty acid transporter, causing a spectrum of neurodegenerative phenotypes.
Jessica R. C. Priestley, Laura A. Adang, Sarah Drewes Williams, Uta Lichter-Konecki, Caitlin Menello, Nicole M. Engelhardt, James C. DiPerna, Brenda DiBoscio, Rebecca C. Ahrens-Nicklas, Andrew C. Edmondson, Francis Jeshira Reynoso Santos, Can Ficicioglu   +11 more
doaj   +1 more source

ALD-Zn_xTi_yO as Window Layer in Cu(In,Ga)Se₂ Solar Cells

, 2018
We report on the application of ZnxTiyO deposited by atomic layer deposition (ALD) as buffer layer in thin film Cu­(In,Ga)­Se2 (CIGS) solar cells to improve the photovoltaic device performance.
Stephan Buecheler (1361556), Johannes Löckinger (1361541), Yaroslav E. Romanyuk (1586539), Stephan Buecheler, Christian Andres (492642), Marta D. Rossell (1334541), Shiro Nishiwaki (1675102), Christian Andres, Rolf Erni, Rolf Erni (1334535), Yaroslav E. Romanyuk, Shiro Nishiwaki, Marta D. Rossell, Johannes Löckinger, Ayodhya N. Tiwari, Ayodhya N. Tiwari (1361544)   +15 more
core   +1 more source

Localization of nervonic acid β-oxidation in human and rodent peroxisomes: impaired oxidation in Zellweger syndrome and X-linked adrenoleukodystrophy

Journal of Lipid Research, 1998
Studies with purified subcellular organelles from rat liver indicate that nervonic acid (C24:1) is β-oxidized preferentially in peroxisomes. Lack of effect by etomoxir, inhibitor of mitochondrial β-oxidation, on β-oxidation of lignoceric acid (C24:0), a ...
Rajat Sandhir, Mushfiquddin Khan, Amarjit Chahal, Inderjit Singh   +3 more
doaj   +1 more source

Posterior Disconnection Syndrome in Early‐Stage Adult‐Onset Cerebral Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adult‐onset cerebral adrenoleukodystrophy is potentially treatable but often difficult to recognize before advanced cerebral involvement. Herein, we describe three men with early‐stage disease who initially presented with subtle visual complaints rather than subcortical dementia. Targeted neuropsychological testing revealed higher‐order visual
Kazuto Katsuse, Takashi Matsukawa, Yumiko Nakamura, Kazuo Kakinuma, Shoko Ota, Ryo Hara, Saki Nakashima, Kaoru Ito, Yutaro Nakamori, Toshiyuki Kakumoto, Masashi Hamada, Shigenori Kanno, Kyoko Suzuki, Tatsushi Toda   +13 more
wiley   +1 more source

Mutations of ABCD1 gene and phenotype of Vietnamese patients with X-linked adrenoleukodystrophy (X-ALD) [PDF]

International Journal of Pediatric Endocrinology, 2013
X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1, which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the ATP-binding cassette transporter superfamily. X-ALD is panethnic and affects approximately 1:20,000 males.
Dung, Vu, Shimozawa, Nobuyuki, Khanh, Nguyen, Thao, Bui, Ngoc, Can, Dat, Nguyen, Hoan, Nguyen   +6 more
openaire   +1 more source

Chemical State Detection and Charge Transfer in Complex Oxide Heterostructures via In Situ Auger Electron Spectroscopy

Advanced Functional Materials, EarlyView.
In situ Auger Electron Spectroscopy resolves oxidation states with high fidelity during the pulsed laser deposition of multivalent perovskite manganate and vanadate heterostructures. The chemical‐state signature is carried by the valence‐electron population of the transition‐metal cation, read out through the relative intensities of Auger fine ...
Harish Kumarasubramanian, Jayakanth Ravichandran   +1 more
wiley   +1 more source

Multiple sclerosis in an adrenoleukodystrophy carrier

Clinics and Practice, 2011
X-linked adrenoleukodystrophy (X-ALD) is a rare inherited metabolic disorder, in which accumulation of very long chain fatty acids (VLCFAs) results in damage to the central nervous system.
Thomas Jenkins, Priya Sarasamma, Godfrey Gillett, Stuart Coley, Basil Sharrack   +4 more
doaj   +1 more source

Electrode and Microstructure Dependence of Oxygen Diffusion in Ferroelectric Hafnium Zirconium Oxide Thin Films

Advanced Functional Materials, EarlyView.
Significant nanoscale oxygen diffusion coefficient variations are measured in ferroelectric hafnium zirconium oxide films with grain boundaries and electrode interfaces exhibiting values 104 times larger than the grain cores. Overall coefficients are 10X larger for films prepared with metal nitride electrodes compared to refractory metals. New insights
Liron Shvilberg, Thomas W. Pfeifer, Chuanzhen Zhou, Yong Kyu Choi, Duk‐Hyun Choe, Patrick E. Hopkins, Jon F. Ihlefeld   +6 more
wiley   +1 more source

From gene to therapy: a review of deciphering the role of ABCD1 in combating X-Linked adrenoleukodystrophy

Lipids in Health and Disease
X-linked adrenoleukodystrophy (X-ALD) is a severe genetic disorder caused by ABCD1 mutations, resulting in the buildup of very-long-chain fatty acids, leading to significant neurological decline and adrenal insufficiency.
Xinxin Zuo, Zeyu Chen
doaj   +1 more source