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 …
[HTML][HTML] X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
Abstract X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder.
The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal …
The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal …
Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy
N Cartier, S Hacein-Bey-Abina, CC Bartholomae… - science, 2009 - science.org
X-linked adrenoleukodystrophy (ALD) is a severe brain demyelinating disease in boys that
is caused by a deficiency in ALD protein, an adenosine triphosphate–binding cassette …
is caused by a deficiency in ALD protein, an adenosine triphosphate–binding cassette …
[HTML][HTML] Hematopoietic stem-cell gene therapy for cerebral adrenoleukodystrophy
F Eichler, C Duncan, PL Musolino… - … England Journal of …, 2017 - Mass Medical Soc
Background In X-linked adrenoleukodystrophy, mutations in ABCD1 lead to loss of function
of the ALD protein. Cerebral adrenoleukodystrophy is characterized by demyelination and …
of the ALD protein. Cerebral adrenoleukodystrophy is characterized by demyelination and …
Adrenoleukodystrophy–neuroendocrine pathogenesis and redefinition of natural history
S Kemp, IC Huffnagel, GE Linthorst… - Nature Reviews …, 2016 - nature.com
X-Linked adrenoleukodystrophy (ALD) is a peroxisomal metabolic disorder with a highly
complex clinical presentation. ALD is caused by mutations in the ABCD1 gene, which leads …
complex clinical presentation. ALD is caused by mutations in the ABCD1 gene, which leads …
[HTML][HTML] Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: review of clinical manifestations as foundations for therapeutic development
S Papapetropoulos, A Pontius, E Finger… - Frontiers in …, 2022 - frontiersin.org
A comprehensive review of published literature was conducted to elucidate the genetics,
neuropathology, imaging findings, prevalence, clinical course, diagnosis/clinical evaluation …
neuropathology, imaging findings, prevalence, clinical course, diagnosis/clinical evaluation …
[HTML][HTML] X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects
S Kemp, J Berger, P Aubourg - … Et Biophysica Acta (BBA)-Molecular Basis …, 2012 - Elsevier
X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease. The two
main clinical phenotypes of X-ALD are adrenomyeloneuropathy (AMN) and inflammatory …
main clinical phenotypes of X-ALD are adrenomyeloneuropathy (AMN) and inflammatory …
X-linked adrenoleukodystrophy
HW Moser, A Mahmood, GV Raymond - Nature Clinical Practice …, 2007 - nature.com
Abstract X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1,
which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the …
which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the …
Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999
C Peters, LR Charnas, Y Tan, RS Ziegler, EG Shapiro… - Blood, 2004 - ashpublications.org
Cerebral X-linked adrenoleukodystrophy (X-ALD) is a disorder of very-long-chain fatty acid
metabolism, adrenal insufficiency, and cerebral demyelination. Death occurs within 2 to 5 …
metabolism, adrenal insufficiency, and cerebral demyelination. Death occurs within 2 to 5 …
Outcomes after allogeneic hematopoietic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report
WP Miller, SM Rothman, D Nascene… - Blood, The Journal …, 2011 - ashpublications.org
Cerebral adrenoleukodystrophy (cALD) remains a devastating neurodegenerative disease;
only allogeneic hematopoietic cell transplantation (HCT) has been shown to provide long …
only allogeneic hematopoietic cell transplantation (HCT) has been shown to provide long …