Familial skewed x chromosome inactivation in adrenoleukodystrophy manifesting heterozygotes from a Chinese pedigree. [PDF]
PLoS ONE, 2013 X-linked adrenoleukodystrophy (X-ALD) is an inherited neurodegenerative disorder caused by mutations in the ABCD1 gene. Approximately 20% of X-ALD female carriers may develop neurological symptoms. Skewed X chromosome inactivation (XCI) has been proposed
Zhihong Wang +5 more
doaj +1 more source
Newborn Screening for X-Linked Adrenoleukodystrophy in Nebraska: Initial Experiences and Challenges
International Journal of Neonatal Screening, 2022 X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disease caused by pathogenic variants in ABCD1 resulting in defective peroxisomal oxidation of very long-chain fatty acids.
Craig V. Baker +6 more
doaj +1 more source
EBioMedicine, 2023 Summary: Background: X-linked adrenoleukodystrophy (X-ALD) is highly variable, ranging from slowly progressive adrenomyeloneuropathy to severe brain demyelination and inflammation (cerebral ALD, CALD) affecting males with childhood peak onset.
Isabelle Weinhofer +25 more
doaj +1 more source
Monolayer MoS<sub>2</sub> With Ultrahigh Piezoelectricity: From ALD Dose Control to Device Performance. [PDF]
Adv Sci (Weinh)This study demonstrates that controlling precursor dosages in atomic layer deposition (ALD) serves to regulate ultrathin oxide quality, which in turn determines sulfurization behavior and MoS2 monolayer continuity. The resulting continuous, low‐defect monolayers enable improved piezoelectric performance and support a flexible slippage sensor, linking ...
Li Y +16 more
europepmc +2 more sources
Interfacial band parameters of ultrathin ALD-ZrO2 on Ga-polar GaN through XPS measurements
, 2023 Recent demonstrations of grafted p-n junctions combining n-type GaN with p-type semiconductors have shown great potential in achieving lattice-mismatch epitaxy-like heterostructures.
Zhou, Jie +15 more
core +1 more source
Detailed study of copper oxide ALD on SiO2, TaN, and Ru
, 2022 1 S.Copper films with a thickness in the nanometer range are required as seed layers for the electrochemical Cu deposition to form multilevel interconnects in ultralarge-scale integrated (ULSI) electronic devices. Continuously shrinking device dimensions
Roth, N. +8 more
core +1 more source
Broadening the Spectrum of Adulthood X-Linked Adrenoleukodystrophy: A Report of Two Atypical Cases
Frontiers in Neurology, 2019 X-linked adrenoleukodystrophy (x-ALD) is a rare genetic disorder caused by a mutation in the ABCD1 gene, which encodes for a peroxisomal very long chain fatty acid transporter.
Matteo Foschi +12 more
doaj +1 more source
Genetic analysis and prenatal diagnosis of 76 Chinese families with X‐linked adrenoleukodystrophy
Molecular Genetics & Genomic Medicine, 2022 Background Variants in the ATP binding cassette protein subfamily D member 1 (ABCD1) gene are known to cause X‐linked adrenoleukodystrophy (X‐ALD). This study focused on the characteristics of ABCD1 variants in Chinese X‐ALD families and elucidated the ...
Siwen Liu +8 more
doaj +1 more source
Etiology and treatment of adrenoleukodystrophy: new insights from Drosophila
Disease Models & Mechanisms, 2018 Adrenoleukodystrophy (ALD) is a fatal progressive neurodegenerative disorder affecting brain white matter. The most common form of ALD is X-linked (X-ALD) and results from mutation of the ABCD1-encoded very-long-chain fatty acid (VLCFA) transporter.
Hannah B. Gordon +2 more
doaj +1 more source
Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy [PDF]
Human Molecular Genetics, 2002 Adrenomyeloneuropathy (AMN) and cerebral childhood adrenoleukodystrophy (CCALD) are the main phenotypic variants of an X-linked inherited metabolic disorder causing demyelination, X-linked adrenoleukodystrophy (X-ALD). It is caused by mutations in the ABCD1 (ALD) gene encoding a peroxisomal ABC transporter.
Pujol, Aurora +5 more
openaire +3 more sources