The physiological functions of human peroxisomes
RJA Wanders, M Baes, D Ribeiro… - Physiological …, 2023 - journals.physiology.org
Peroxisomes are subcellular organelles that play a central role in human physiology by
catalyzing a range of unique metabolic functions. The importance of peroxisomes for human …
catalyzing a range of unique metabolic functions. The importance of peroxisomes for human …
Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy
AO Gupta, G Raymond, EI Pierpont… - Expert opinion on …, 2022 - Taylor & Francis
Introduction Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder with an
incidence of 1 in 14–17,000 male births, caused by pathogenic variants within the ABCD1 …
incidence of 1 in 14–17,000 male births, caused by pathogenic variants within the ABCD1 …
International recommendations for the diagnosis and management of patients with adrenoleukodystrophy: a consensus-based approach
M Engelen, WJC Van Ballegoij, EJ Mallack… - Neurology, 2022 - AAN Enterprises
Pathogenic variants in the ABCD1 gene cause adrenoleukodystrophy (ALD), a progressive
metabolic disorder characterized by 3 core clinical syndromes: a slowly progressive …
metabolic disorder characterized by 3 core clinical syndromes: a slowly progressive …
Dietary dicarboxylic acids provide a non-storable alternative fat source that protects mice against obesity
ES Goetzman, BB Zhang, Y Zhang… - The Journal of …, 2024 - Am Soc Clin Investig
Dicarboxylic fatty acids are generated in the liver and kidney in a minor pathway called fatty
acid ω-oxidation. The effects of consuming dicarboxylic fatty acids as an alternative source …
acid ω-oxidation. The effects of consuming dicarboxylic fatty acids as an alternative source …
Sex‐specific newborn screening for X‐linked adrenoleukodystrophy
M Albersen, SL van der Beek… - Journal of Inherited …, 2023 - Wiley Online Library
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 …
insufficiency and/or progressive leukodystrophy (cerebral ALD) at an early age. Pathogenic …
Molecular biomarkers for adrenoleukodystrophy: an unmet need
X-linked adrenoleukodystrophy (ALD) is an inherited progressive neurometabolic disease
caused by mutations in the ABCD1 gene and the accumulation of very long-chain fatty acids …
caused by mutations in the ABCD1 gene and the accumulation of very long-chain fatty acids …
Metabolic rerouting via SCD1 induction impacts X-linked adrenoleukodystrophy
Q Raas, MC van de Beek… - The Journal of …, 2021 - Am Soc Clin Investig
X-linked adrenoleukodystrophy (ALD) is a progressive neurodegenerative disease caused
by mutations in ABCD1, the peroxisomal very long–chain fatty acid (VLCFA) transporter …
by mutations in ABCD1, the peroxisomal very long–chain fatty acid (VLCFA) transporter …
VUS: Variant of uncertain significance or very unclear situation?
The advancements in population screening, including newborn screening, enables the
identification of disease-causing variants and timely initiation of treatment. However …
identification of disease-causing variants and timely initiation of treatment. However …
Peroxisomal disorders and their mouse models point to essential roles of peroxisomes for retinal integrity
Y Das, D Swinkels, M Baes - International Journal of Molecular Sciences, 2021 - mdpi.com
Peroxisomes are multifunctional organelles, well known for their role in cellular lipid
homeostasis. Their importance is highlighted by the life-threatening diseases caused by …
homeostasis. Their importance is highlighted by the life-threatening diseases caused by …