Try the Free App:
Prime PubMed app for iOS iPhone iPad
Prime PubMed app for Android
Prime PubMed is provided
free to individuals by:
Unbound Medicine.
2,672 results
  • Identification of a Novel Non-Canonical Splice-Site Variant in ABCD1. [Journal Article]
    J Clin Med. 2023 Jan 06; 12(2)Zheng F, Lin Z, … Lin Z
  • Cerebral adrenoleukodystrophy (CALD) is a fatal genetic disease characterized by rapid, devastating neurological decline, with a narrow curative treatment window in the early stage. Non-canonical splice-site (NCSS) variants can easily be missed during genomic DNA analyses, and only a few of them in ABCD1 have been explored. Here, we studied a Chinese patient with clinical features similar to thos…
  • Saturated very long-chain fatty acids regulate macrophage plasticity and invasiveness. [Journal Article]
    J Neuroinflammation. 2022 Dec 17; 19(1):305.Zierfuss B, Buda A, … Weinhofer I
  • Saturated very long-chain fatty acids (VLCFA, ≥ C22), enriched in brain myelin and innate immune cells, accumulate in X-linked adrenoleukodystrophy (X-ALD) due to inherited dysfunction of the peroxisomal VLCFA transporter ABCD1. In its severest form, X-ALD causes cerebral myelin destruction with infiltration of pro-inflammatory skewed monocytes/macrophages. How VLCFA levels relate to macrophage a…
  • [Adrenoleukodystrophy: Lorenzo's Oil]. [Journal Article]
    Brain Nerve. 2022 Dec; 74(12):1354-1357.Yamawaki T
  • Lorenzo's Oil, an American movie released in 1992, is based on a true story of a couple who spare no effort to search for a cure for their 5-year-old son who gradually develops eccentricities and signs of progressive motor and speech disturbances and is diagnosed with adrenoleukodystrophy. Despite lack of medical knowledge, Lorenzo's parents embark on a mission to study the disease on their own a…
  • Early recognition of patients with leukodystrophies. [Review]
    Curr Probl Pediatr Adolesc Health Care. 2022 12; 52(12):101311.Modesti NB, Evans SH, … Gavazzi F
  • Leukodystrophies are defined as differences in normal myelin development and maintenance in the central nervous system. They typically present as white matter imaging abnormalities in young children with delayed developmental milestones. As the scientific community begins to better understand and research the mechanisms underlying leukodystrophies, clinical trials and approved therapies for speci…
  • The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients. [Journal Article]
    Brain. 2022 Nov 16 [Online ahead of print]Wu C, Wang M, … Zhang Z
  • Genetic leukoencephalopathies (gLEs) are a highly heterogeneous group of rare genetic disorders. The spectrum of gLEs varies among patients of different ages. Distinct from the relatively more abundant studies of gLEs in children, only a few studies that explore the spectrum of adult gLEs have been published, and it should be noted that the majority of these excluded certain gLEs. Thus, to date, …
  • Structural and functional insights of the human peroxisomal ABC transporter ALDP. [Journal Article]
    Elife. 2022 11 14; 11Jia Y, Zhang Y, … Yang G
  • Adrenoleukodystrophy protein (ALDP) is responsible for the transport of very-long-chain fatty acids (VLCFAs) and corresponding CoA-esters across the peroxisomal membrane. Dysfunction of ALDP leads to peroxisomal metabolic disorder exemplified by X-linked adrenoleukodystrophy (ALD). Hundreds of ALD-causing mutations have been identified on ALDP. However, the pathogenic mechanisms of these mutation…
  • An update on the diagnosis and treatment of adrenoleukodystrophy. [Review]
    Curr Opin Endocrinol Diabetes Obes. 2023 Feb 01; 30(1):44-51.Gujral J, Sethuram S
  • CONCLUSIONS: Early diagnosis and HSCT are key to improving the morbidity and mortality associated with ALD. The implementation of universal newborn screening for ALD and rigorous investigations of novel diagnostic and therapeutic agents is the need of the hour.
  • Antioxidant Response in Human X-Linked Adrenoleukodystrophy Fibroblasts. [Journal Article]
    Antioxidants (Basel). 2022 Oct 28; 11(11)Petrillo S, D'Amico J, … Piemonte F
  • 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 for peroxisomal import and degradation of very long chain fatty acids (VLCFAs). Therefore, VLCFAs accumulate in tissues and plasma, constituting…
  • MicroRNA and metabolomics signatures for adrenomyeloneuropathy disease severity. [Journal Article]
    JIMD Rep. 2022 Nov; 63(6):593-603.Turk BR, Poisson LM, … Singh J
  • Adrenomyeloneuropathy (AMN), the slow progressive phenotype of adrenoleukodystrophy (ALD), has no clinical plasma biomarker for disease progression. This feasibility study aimed to determine whether metabolomics and micro-RNA in blood plasma provide a potential source of biomarkers for AMN disease severity. Metabolomics and RNA-seq were performed on AMN and healthy human blood plasma. Biomarker d…
  • Newborn Screening Is on a Collision Course with Public Health Ethics. [Journal Article]
    Int J Neonatal Screen. 2022 Sep 26; 8(4)Currier RJ
  • Newborn screening was established over 50 years ago to identify cases of disorders that were serious, urgent, and treatable, mirroring the criteria of Wilson and Jungner. In the last decade, conditions have been added to newborn screening that do not strictly meet these criteria, and genomic newborn screening is beginning to be discussed. Some of these new and proposed additions to newborn screen…
  • Phenotypic continuum of NFU1-related disorders. [Journal Article]
    Ann Clin Transl Neurol. 2022 Dec; 9(12):2025-2035.Kaiyrzhanov R, Zaki MS, … Maroofian R
  • Bi-allelic variants in Iron-Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early-onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra-rare bi-allelic NFU1 missense variants associated with a spectrum of early-onset pure to complex hereditary sp…
  • Sex-specific newborn screening for X-linked adrenoleukodystrophy. [Journal Article]
    J Inherit Metab Dis. 2023 Jan; 46(1):116-128.Albersen M, van der Beek SL, … Kemp S
  • Males with X-linked adrenoleukodystrophy (ALD) are at high risk for developing adrenal insufficiency and/or progressive leukodystrophy (cerebral ALD) at an early age. Pathogenic variants in ABCD1 result in elevated levels of very long-chain fatty acids (VLCFA), including C26:0-lysophosphatidylcholine (C26:0-LPC). Newborn screening for ALD enables prospective monitoring and timely therapeutic inte…
New Search Next