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| http://dx.doi.org/10.1590/0004-282X-ANP-2020-0294 | DOI Listing |
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Altered lipid profile and reduced neuronal support in human induced pluripotent stem cell-derived astrocytes from adrenoleukodystrophy patients.
J Inherit Metab Dis
January 2025
Department of Complex Trait Genetics, Centre for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
X-linked adrenoleukodystrophy (ALD) is a peroxisomal disorder resulting from pathogenic variants in the ABCD1 gene that primarily affects the nervous system and is characterized by progressive axonal degeneration in the spinal cord and peripheral nerves and leukodystrophy. Dysfunction of peroxisomal very long-chain fatty acid (VLCFA) degradation has been implicated in ALD pathology, but the impact on astrocytes, which critically support neuronal function, remains poorly understood. Fibroblasts from four ALD patients were reprogrammed to generate human-induced pluripotent stem cells (hiPSC).
View Article and Find Full Text PDF[LORENZO'S OIL AND ADRENOLEUKODYSTROPHY EXAMINING AN ARTIFICIAL INTELLIGENCE TOOL INTENDED FOR CONDUCTING LITERATURE SEARCHES AND ANALYSES].
Harefuah
December 2024
Maccabi Healthcare Services Sharon Region, Hebrew University Faculty of Medicine, and Medint Medical Intelligence, Tel Aviv, Israel.
Adrenoleukodystrophy is a genetic metabolic disorder characterized by a heterogeneous phenotype. Its severe form, known as cerebral adrenoleukodystrophy, involves unpredictable cerebral damage and progressive central nervous system deterioration. This rare condition became famous because of a Hollywood movie in which the Italian parents of a child with the condition supposedly discovered a medication for treating the condition.
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.
Elivaldogene autotemcel approved for treatment of cerebral adrenoleukodystrophy (CALD) in males: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG).
Genet Med Open
November 2023
Department of Genetics, Pediatrics, and Neurology, George Washington University, Washington, DC.
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.
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