Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.lab.2003.11.002 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population.
Mol Genet Genomic Med
January 2025
College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Background: The use of exome sequencing (ES) has helped in detecting many variants and genes that cause primary adrenal insufficiency (PAI). The diagnosis of PAI is difficult and can be life-threatening if not treated urgently. Consanguinity can impact the detection of recessively inherited genes.
View Article and Find Full Text PDFModelling Peroxisomal Disorders in Zebrafish.
Cells
January 2025
Biosciences, Faculty of Health and Life Sciences, University of Exeter, Exeter EX4 4QD, UK.
Peroxisomes are ubiquitous, dynamic, oxidative organelles with key functions in cellular lipid metabolism and redox homeostasis. They have been linked to healthy ageing, neurodegeneration, cancer, the combat of pathogens and viruses, and infection and immune responses. Their biogenesis relies on several peroxins (encoded by genes), which mediate matrix protein import, membrane assembly, and peroxisome multiplication.
View Article and Find Full Text PDFOptical coherence tomography angiography reveals abnormal retinal vascular density and perfusion in patients with X-linked adrenoleukodystrophy: a cross-sectional study.
Orphanet J Rare Dis
January 2025
Department of Ophthalmology, Daping Hospital, Chongqing, China.
Purpose: X-linked adrenoleukodystrophy (XALD) can affect the eyes. Existing therapies are hampered by early quantitative examination methods. This study used an optical coherence tomography angiography system (OCTA) to investigate retinal microvascular density and perfusion in XALD patients.
View Article and Find Full Text PDFParoxysmal delta waves of awake EEG in childhood adrenoleukodystrophy: Possible indicator of the hematopoietic stem cell therapy (HSCT).
Brain Dev
December 2024
Department of Developmental Disorders, National Institute of Mental Health, National Center of Neurology and Psychiatry (NCNP), Japan; Department of Pediatrics, Tottori Prefectural Tottori Rehabilitation Center, Japan.
Background: Childhood cerebral type of Adrenoleukodystrophy (CC-ALD) is fatal without hematopoietic stem cell transplantation (HSCT). We consider whether EEGs showing focal paroxysmal delta waves can be a candidate of early detector of the apparent ALD and HSCT therapy.
Methods: Twenty-two male children with ALD (5-16 years; 10.
Emerging Role of Ubiquitin Proteasome System and Autophagy in Pediatric Demyelinating Leukodystrophies and Therapeutic Opportunity.
Cells
November 2024
Department of Neurology, MacKay Children's Hospital, Taipei 10449, Taiwan.
Leukodystrophies represent a heterogeneous group of disorders characterized by specific genetic mutations, metabolic abnormalities, and degeneration of white matter in the central nervous system. These disorders are classified into several categories, with X-linked adrenoleukodystrophy (X-ALD), metachromatic leukodystrophy (MLD), and globoid cell leukodystrophy (GLD) being the most prevalent demyelinating leukodystrophies in pediatric populations. Maintaining proteostasis, which is critical for normal cellular function, relies fundamentally on the ubiquitin-proteasome system (UPS) and autophagy for the degradation of misfolded and damaged proteins.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!