Results 1 to 10 of about 3,353 (190)

ABCD1 Transporter Deficiency Results in Altered Cholesterol Homeostasis

Biomolecules, 2023
X-linked adrenoleukodystrophy (X-ALD), the most common peroxisomal disorder, is caused by mutations in the peroxisomal transporter ABCD1, resulting in the accumulation of very long-chain fatty acids (VLCFA).
Sonja Forss-Petter, Isabelle Weinhofer, Yorrick Jaspers   +2 more
exaly   +6 more sources

A Chinese X‐Linked Adrenoleukodystrophy Patient With Atypical Clinical Symptoms Contained an Undefined ABCD1 Mutation—A Case Report and Literature Review [PDF]

Clinical Case Reports
X‐linked adrenoleukodystrophy (X‐ALD) is a genetic peroxisome disorder linked to ABCD1 mutation, characterized by rapid and complex clinical symptoms. We here report a case of X‐ALD manifesting solely as dysarthria, associated with an undefined mutation ...
Fu‐Qing Zhang, Zhuoran Zhang, Dongliang Wang, Ying Yang, Xin Li   +4 more
doaj   +3 more sources

Genetic analysis of the X-linked adrenoleukodystrophy gene ABCD1 in Drosophila uncovers a conserved phenotype [PDF]

Communications Biology
X-linked adrenoleukodystrophy (X-ALD) is a progressive neurodegenerative disorder caused by a loss-of-function (LOF) mutation in the ATP-binding cassette subfamily D member 1 (ABCD1) gene, leading to the accumulation of very long-chain fatty acids ...
Joshua Manor, Sharayu V. Jangam, Hyung-lok Chung, Pranjali Bhagwat, Jonathan C. Andrews, Hillary Chester, Shu Kondo, Saurabh Srivastav, Juan Botas, Ann B. Moser, Suzette M. Huguenin, Michael F. Wangler   +11 more
doaj   +2 more sources

Generation of an immortalized astrocytic cell line from Abcd1-deficient H-2KbtsA58 mice to facilitate the study of the role of astrocytes in X-linked adrenoleukodystrophy

Heliyon, 2021
X-linked adrenoleukodystrophy (X-ALD) is an inherited metabolic disease characterized by inflammatory demyelination, and activated astrocytes as well as microglia are thought to be involved in its pathogenesis.
Masakiyo Sasahara, Kosuke Kawaguchi, Masashi Morita   +2 more
exaly   +3 more sources

Plasma Very-Long-Chain Fatty Acids in X-Linked Adrenoleukodystrophy: Diagnostic Insights From a Clinical Laboratory Cohort. [PDF]

J Clin Lab Anal
Plasma VLCFA levels are increased in symptomatic X‐linked adrenoleukodystrophy, particularly in patients with cerebral involvement. However, they do not reliably predict disease progression or longitudinal changes. These findings support their diagnostic value while highlighting the need for more robust prognostic biomarkers in clinical practice ...
Blas SM, Pujalte SP, Álvarez AM, Ríos AIÁ, Cabello BM, Moreno CN, Gila ALG, Fuentes ED, Moreno EV, Pecellín CD.   +9 more
europepmc   +2 more sources

Expanded Umbilical Cord Blood Transplantation in Cerebral X-Linked Adrenoleukodystrophy: A Case Report. [PDF]

EJHaem
ABSTRACT Umbilical cord blood transplantation is a viable source of stem cells due to accessibility and low incidence of chronic graft‐versus‐host disease despite human‐leukocyte‐antigen mismatching. Disadvantages of low stem cell dose in larger recipients include delayed immune reconstitution, graft rejection, and mortality.
Granberg RE, Pfeiffer T, Sansar S, Galindo R, Shenoy S.   +4 more
europepmc   +2 more sources

Longitudinal Clinical Progression in X‐Linked Adrenoleukodystrophy: The AMNL Scoring System [PDF]

Ann Child Neurol Soc
ABSTRACT Objective The current clinical nomenclature for individuals with ABCD1 gene dysfunction is often uninformative. The disorder was initially described as a combination of adrenal insufficiency and leukodystrophy, leading to the widespread use of “X‐linked adrenoleukodystrophy” (ALD).
Kabak E, Videbaek C, Voermans M, van Geel B, van Haren K, Kemp S, van de Beek D, Engelen M.   +7 more
europepmc   +2 more sources

Peroxisomal Lipid Metabolism as a Therapeutic Target in Leukemia. [PDF]

Mol Nutr Food Res
Peroxisomes are emerging as key regulators of lipid metabolism in leukemia. Enhanced metabolism of very‐long‐chain fatty acids (VLCFAs) supports leukemia cell survival, redox homeostasis, and therapeutic resistance. Pharmacologic disruption of peroxisomal fatty acid oxidation causes VLCFA accumulation, oxidative stress, and mitochondrial dysfunction ...
Parfenova EN, Spagnuolo PA.
europepmc   +2 more sources

A Novel Missense Variant of the ABCD1 Gene in X‐Linked Adrenoleukodystrophy in Chinese Family [PDF]

Molecular Genetics & Genomic Medicine
Background We identified a novel ABCD1 variant (c.773T>G, p.Leu258Arg, NM_000033.4) in a Chinese pedigree affected by X‐linked adrenoleukodystrophy (X‐ALD).
Hongxia Fu, Lu Han, Xianhong Liu, Bin He, Pei He, Junjian Hu   +5 more
doaj   +2 more sources

Peroxisomal ABCD1 deficiency in mice drives Th1 bias through 25-HC–LXR signaling in CD4+ T cells [PDF]

Frontiers in Immunology
X-linked adrenoleukodystrophy (X-ALD) is driven by ABCD1 dysfunction, causing very-long-chain fatty acid (VLCFA) accumulation and cerebral inflammation, yet the role of T cells in X-ALD remains unclear.
Reina Maeda, Mayu Oishi, Ryutaro Nagamori, Mari Hikosaka-Kuniishi, Shiro Watanabe, Jung-Bum Lee, Masashi Morita, Takanori So   +7 more
doaj   +2 more sources