Results 61 to 70 of about 29,741 (152)

Structural and functional insights of the human peroxisomal ABC transporter ALDP

eLife, 2022
Adrenoleukodystrophy protein (ALDP) is responsible for the transport of very-long-chain fatty acids (VLCFAs) and corresponding CoA-esters across the peroxisomal membrane. Dysfunction of ALDP leads to peroxisomal metabolic disorder exemplified by X-linked
Yutian Jia, Yanming Zhang, Wenhao Wang, Jianlin Lei, Zhengxin Ying, Guanghui Yang   +5 more
doaj   +1 more source

Microglia and neuroinflammation: An in‐depth analysis from functional diversity to disease mechanisms

Clinical and Translational Medicine, Volume 16, Issue 9, September 2026.
1. Microglial functions arise from dynamic, context‐dependent programs rather than fixed M1/M2 phenotypes. 2. Inflammatory, interferon‐responsive, phagocytic/lipid‐metabolic and repair‐associated programs coexist across disease stages and brain regions. 3.
Jie Chen, Wangzheqi Zhang, Lizhou Song, Yan Liao, Haoling Zhang, Yiyang Xia, Derong Cui   +6 more
wiley   +1 more source

Assessing procedures followed in response to the initiation of newborn screening (NBS) for X-linked adrenoleukodystrophy (X-ALD) [PDF]

, 2020
X-linked adrenoleukodystrophy (X-ALD) is a genetic peroxisomal disorder associated with variable expressivity, incomplete penetrance, and lack of genotype-phenotype correlation. Newborn screening (NBS) for X-ALD was only recently initiated and the follow-
DuBois, Makenna Nicole
core   +1 more source

Peroxisomal Lipid Metabolism as a Therapeutic Target in Leukemia

Molecular Nutrition &Food Research, Volume 70, Issue 11, 15 June 2026.
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 ...
Ekaterina N. Parfenova, Paul A. Spagnuolo   +1 more
wiley   +1 more source

Progressive demyelinating childhood cerebral adrenoleukodystrophy : Assessment of communication impairment

Rare
Adrenoleukodystrophy (ALD) is a rare demyelinating genetic disorder occurring due to mutation in the gene ABCD1. The current case study involved detailed evaluation of communication skills including audiological and speech-language evaluations of a 6 ...
Mangal Chandra Yadav, Bhavani Venkatachalam, Akshay Parmar, M. Aparna Krishnan, Reheema Thasli, Sachchidanand Sinha   +5 more
doaj   +1 more source

Interval between contrast administration and T1-weighted MRI for cerebral adrenoleukodystrophy: a single-case observation

European Radiology Experimental, 2023
In adrenoleukodystrophy (ALD), contrast enhancement (CE) is a disease activity marker, but there is uncertainty about the optimal delay, if any, between contrast injection and magnetic resonance imaging (MRI) acquisition to avoid false-negative results ...
Marco Moscatelli, Chiara Benzoni, Fabio M. Doniselli, Mattia Verri, Riccardo Pascuzzo, Domenico Aquino, Federica Mazzi, Alessandra Erbetta, Ettore Salsano   +8 more
doaj   +1 more source

Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis

Muscle &Nerve, Volume 73, Issue 6, Page 1082-1088, June 2026.
ABSTRACT Introduction/Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by variants in the CYP27A1 gene, resulting in cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is common but often under‐recognized in CTX.
Antonio Edvan Camelo‐Filho, Pedro Lucas G. S. B. Lima, Tito B. S. Soares, Rodrigo Fagundes da Rosa, Luis Edmundo T. A. Furtado, Ana Lucila Moreira, André L. S. Pessoa, Paulo R. Nóbrega, Pedro Braga‐Neto   +8 more
wiley   +1 more source

Skin and conjunctival biopsies in adrenoleukodystrophy

, 1977
Conjunctival and skin biopsies were performed in an 111/2 year-old caucasian male affected by adrenoleukodystrophy (ALD). In Schwann cells surrounding myelinated axons in conjunctival and dermal nerve bundles, empty clefts and a few arrays of lamellae ...
Ceuterick-de Groote, Chantal, Libert, Jacques, Ceuterick, Chantal, Martin, Laura Frances L., Martin, L., Libert, J., Martin, Jean-Jacques   +6 more
core   +1 more source

Allogeneic stem cell transplantation with reduced intensity conditioning for patients with adrenoleukodystrophy

Molecular Genetics and Metabolism Reports, 2019
Objective: The prognosis of adrenoleukodystrophy (ALD)with neurological involvement is generally dismal; however, allogeneic stem cell transplantation (SCT) is recognized as effective to stabilize or improve the clinical symptoms of ALD.
Koji Kato, Ryo Maemura, Manabu Wakamatsu, Ayako Yamamori, Motoharu Hamada, Shinsuke Kataoka, Atsushi Narita, Shunsuke Miwata, Yuko Sekiya, Nozomu Kawashima, Kyogo Suzuki, Kotaro Narita, Sayoko Doisaki, Hideki Muramatsu, Hirotoshi Sakaguchi, Kimikazu Matsumoto, Yuka Koike, Osamu Onodera, Makiko Kaga, Nobuyuki Shimozawa, Nao Yoshida   +20 more
doaj   +1 more source

The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis

, 2015
Christoph Wiesinger,1 Florian S Eichler,2 Johannes Berger1 1Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, Vienna, Austria; 2Department for Neurology, Massachusetts General Hospital, Harvard ...
Eichler FS, Berger J, Wiesinger C
core