Results 21 to 30 of about 5,661,504 (280)
Cyclophilin D as a potential target for antioxidants in neurodegeneration: the X-ALD case [PDF]
bchm, 2013 Abstract X-linked adrenoleukodystrophy (X-ALD) is a severe inherited neurodegenerative disorder characterized by adrenal insufficiency and graded damage in the nervous system. Loss of function of the peroxisomal ABCD1 fatty-acid transporter, resulting in the accumulation of very long-chain fatty acids in organs and plasma, is the genetic
López Erauskin, Jone +3 more
openaire +3 more sources
CD1 gene polymorphisms and phenotypic variability in X-linked adrenoleukodystrophy. [PDF]
PLoS ONE, 2012 X-linked adrenoleukodystrophy (X-ALD) is characterized by marked phenotypic variation ranging from adrenomyeloneuropathy (AMN) to childhood cerebral ALD (CCALD).
Mathieu Barbier +9 more
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2021 We measured C24:0 and C26:0-carnitines in dried blood spots by flow injection analysis-tandem mass spectrometry method to evaluate whether they can be used as markers for newborn screening of X-linked Adrenoleukodystrophy (X-ALD).
Archana Natarajan +3 more
doaj +1 more source
ABCD1 Transporter Deficiency Results in Altered Cholesterol Homeostasis
Biomolecules, 2023 X-linked adrenoleukodystrophy (X-ALD), the most common peroxisomal disorder, is caused by mutations in the peroxisomal transporter ABCD1, resulting in the accumulation of very long-chain fatty acids (VLCFA).
Agnieszka Buda +9 more
doaj +1 more source
Journal of Lipid Research, 1998 X-adrenoleukodystrophy (X-ALD) is an inherited fatty acid metabolic disorder with secondary manifestation of neuroinflammatory disease process. We report that compounds (forskolin, 8-bromo cAMP, and rolipram) that increase cAMP and activate protein ...
Kalipada Pahan +2 more
doaj +1 more source
X-linked adrenoleukodystrophy: clinical and laboratory findings in 15 Brazilian patients
Genetics and Molecular Biology, 2000 Adrenoleukodystrophy (X-ALD) is an X-linked recessively inherited peroxisomal disorder, phenotypically heterogeneous, characterized by progressive white-matter demyelination of the central nervous system and adrenocortical insufficiency.
Carmen R. Vargas +7 more
doaj +1 more source
Growth characteristics, optical properties, and crystallinity of thermal and plasma-enhanced ALD AlN films [PDF]
, 2014 Using real-time in-situ spectroscopic ellipsometry and ex-situ atomic force microscopy and X-ray diffraction, we have investigated the growth characteristics, especially ocusing on the initial growth (nucleation) regime, optical properties and ...
Wiggers, Frank Bert +6 more
core +1 more source
ALD of Copper and Copper Oxide Thin Films for Applications in Metallization Systems of ULSI Devices
, 2022 17 FolienAs a possible alternative for growing seed layers required for electrochemical Cu deposition of metallization systems in ULSI circuits, the atomic layer deposition (ALD) of Cu is under consideration. To avoid drawbacks related to plasma-enhanced
Waechtler, T. +5 more
core +1 more source
Newborn screening and early intervention for X-linked adrenoleukodystrophy: significance, current status, and future perspectives [PDF]
Linchuang erke zazhiX-linked adrenoleukodystrophy (X-ALD) is a severe, progressive peroxisomal disorder inherited in an X-linked recessive pattern, characterized by high morbidity, neurologic deterioration, and premature mortality. Early identification and timely initiation
YANG Xin, CHEN Chi, YANG Rulai
doaj +1 more source
Antioxidant Response in Human X-Linked Adrenoleukodystrophy Fibroblasts
Antioxidants, 2022 Redox imbalance, mitochondrial dysfunction, and inflammation play a major role in the pathophysiology of X-linked adrenoleukodystrophy (X-ALD), an inherited neurodegenerative disease caused by mutations in the ABCD1 gene, encoding the protein responsible
Sara Petrillo +7 more
doaj +1 more source