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 …

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 …

[HTML][HTML] Development and function of the fetal adrenal

E Pignatti, T Du Toit, CE Flück - Reviews in Endocrine and Metabolic …, 2023 - Springer
The adrenal cortex undergoes multiple structural and functional rearrangements to satisfy
the systemic needs for steroids during fetal life, postnatal development, and adulthood. A …

[HTML][HTML] Current insights into adrenal insufficiency in the newborn and young infant

F Buonocore, SM McGlacken-Byrne, I Del Valle… - Frontiers in …, 2020 - frontiersin.org
Adrenal insufficiency (AI) is a potentially life-threatening condition that can be difficult to
diagnose, especially if it is not considered as a potential cause of a child's clinical …

Long-term follow-up of hematopoietic stem-cell gene therapy for cerebral adrenoleukodystrophy

P Bougnères, S Hacein-Bey-Abina, I Labik… - Human Gene …, 2021 - liebertpub.com
In 2009, cerebral adrenoleukodystrophy (c-ALD) became the first brain disease to be treated
with lentiviral (LV)-based hematopoietic stem cell gene therapy with the ABCD1 gene in four …

[HTML][HTML] Emerging role of ABC transporters in glia cells in health and diseases of the central nervous system

M Villa, J Wu, S Hansen, J Pahnke - Cells, 2024 - mdpi.com
ATP-binding cassette (ABC) transporters play a crucial role for the efflux of a wide range of
substrates across different cellular membranes. In the central nervous system (CNS), ABC …

Muscle‐building supplement β‐hydroxy β‐methylbutyrate stimulates the maturation of oligodendroglial progenitor cells to oligodendrocytes

M Jana, S Prieto, S Gorai, S Dasarathy… - Journal of …, 2024 - Wiley Online Library
Oligodendrocytes are the myelinating cells in the CNS and multiple sclerosis (MS) is a
demyelinating disorder that is characterized by progressive loss of myelin. Although …

[HTML][HTML] Newborn screening for X-linked adrenoleukodystrophy in Nebraska: initial experiences and challenges

CV Baker, A Cady Keller, R Lutz, K Eveans… - International Journal of …, 2022 - mdpi.com
X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disease caused by
pathogenic variants in ABCD1 resulting in defective peroxisomal oxidation of very long …

[HTML][HTML] Rare forms of genetic paediatric adrenal insufficiency: Excluding congenital adrenal hyperplasia

V Hasenmajer, R Ferrigno, M Minnetti… - Reviews in Endocrine …, 2023 - Springer
Adrenal insufficiency (AI) is a severe endocrine disorder characterized by insufficient
glucocorticoid (GC) and/or mineralocorticoid (MC) secretion by the adrenal glands, due to …

An update on the diagnosis and treatment of adrenoleukodystrophy

J Gujral, S Sethuram - Current Opinion in Endocrinology …, 2023 - journals.lww.com
An update on the diagnosis and treatment of adrenoleukodystr... : Current Opinion in
Endocrinology, Diabetes and Obesity An update on the diagnosis and treatment of …