Results 31 to 40 of about 29,741 (152)

Therapy for X-adrenoleukodystrophy: normalization of very long chain fatty acids and inhibition of induction of cytokines by cAMP

Journal of Lipid Research, 1998
X-adrenoleukodystrophy (X-ALD) is an inherited fatty acid metabolic disorder with secondary manifestation of neuroinflammatory disease process. We report that compounds (forskolin, 8-bromo cAMP, and rolipram) that increase cAMP and activate protein ...
Kalipada Pahan, Mushfiquddin Khan, Inderjit Singh   +2 more
doaj   +1 more source

Utility of measuring very long-chain fatty-acyl carnitines in dried blood spots for newborn screening of X-linked Adrenoleukodystrophy

Molecular Genetics and Metabolism Reports, 2021
We measured C24:0 and C26:0-carnitines in dried blood spots by flow injection analysis-tandem mass spectrometry method to evaluate whether they can be used as markers for newborn screening of X-linked Adrenoleukodystrophy (X-ALD).
Archana Natarajan, Rita Christopher, Shruti V. Palakuzhiyil, Sadanandavalli Retnaswami Chandra   +3 more
doaj   +1 more source

X-linked adrenoleukodystrophy in Norway Clinical and epidemiological aspects [PDF]

, 2016
In this thesis for the degree of PhD, cand.med. Morten Andreas Horn and his coworkers have surveyed the Norwegian population of patients with X-linked adrenoleukodystrophy.
Horn, Morten Andreas
core   +1 more source

Late adult-onset adrenomyeloneuropathy evolving with atypical severe frontal lobe syndrome: Importance of neuroimaging

Radiology Case Reports, 2019
X-linked adrenoleukodystrophy (X-ALD) is a rare inherited metabolic disease affecting the nervous system and the adrenal glands. It is caused by a mutation of the ABCD1 gene, resulting in the impaired degradation of very long-chain fatty acids and their ...
Clemente Dato, MD, Guglielmo Capaldo, MD, Chiara Terracciano, MD, PhD, Filomena Napolitano, MSc, PhD, Alessandra D'Amico, MD, Sabina Pappatà, MD, Filippo Maria Santorelli, MD, PhD, Giuseppe Di Iorio, MD, Simone Sampaolo, MD, PhD, Mariarosa AB Melone, MD   +9 more
doaj   +1 more source

25-hydroxycholesterol contributes to cerebral inflammation of X-linked adrenoleukodystrophy through activation of the NLRP3 inflammasome

Nature Communications, 2016
The mechanism underlying neuroinflammation in X-linked adrenoleukodystrophy (ALD) is poorly understood. Here authors identify aberrant production of 25-hydroxycholesterol (25-HC) in ALD patient-derived cells, and show that 25-HC mediates ...
Jiho Jang, Sangjun Park, Hye Jin Hur, Hyun-Ju Cho, Inhwa Hwang, Yun Pyo Kang, Isak Im, Hyunji Lee, Eunju Lee, Wonsuk Yang, Hoon-Chul Kang, Sung Won Kwon, Je-Wook Yu, Dong-Wook Kim   +13 more
doaj   +1 more source

Generation of two human induced pluripotent stem cell lines derived from two X-linked adrenoleukodystrophy patients with ABCD1 mutations

Stem Cell Research, 2021
Adrenoleukodystrophy (ALD) is an X-linked genetic disorder, characterized by demyelination in the central nervous system and adrenal insufficiency. Human induced pluripotent stem cell (hiPSC) lines derived from two Japanese male patients with ALD were ...
Yuji Kuramochi, Tomonari Awaya, Mami Matsuo-Takasaki, Miho Takami, Yuri An, Jingyue Li, Yasuko Hemmi, Tamami Wakabayashi, Yutaka Arai, Jun Inoue, Michiya Noguchi, Yukio Nakamura, Isao Asaka, Kazunori Akimoto, Megumu K. Saito, Yohei Hayashi   +15 more
doaj   +1 more source

Dystonic opisthotonus: A rare phenotype of adrenoleukodystrophy

Annals of Movement Disorders, 2019
X-linked adrenoleukodystrophy (X-ALD) is a pan-ethnic disorder and affects approximately 1:20,000 males (Moser HW, Mahmood A, Raymond GV. X-linked adrenoleukodystrophy.
Sindhu D Mallikarjuna, Sadanandavalli R Chandra, Hansashree Padmanabha, Rita Christopher   +3 more
doaj   +1 more source

Adrenoleukodystrophy/Adrenomyeloneuropathy and Neurogenic Bladder Dysfunction. A Review

Juvenis Scientia, 2023
One of the conditions associated with adrenoleukodystrophy (ALD) / adrenomyeloneuropathy (AMN) is neurogenic lower urinary tract dysfunction (LUTD). A thorough examination of patients with ALD/AMN in most cases can reveal overactive bladder (OAB), which ...
Khudyakova, N.V., Pchelin, I.Yu., Shishkin, A.N., Soloviev, O.V., Smirnov, V.V.   +4 more
doaj   +1 more source

Childhood adrenoleukodystrophy - Classic and variant - Review of clinical manifestations and magnetic resonance imaging

Journal of Pediatric Neurosciences, 2013
Adrenoleukodystrophy (ALD) is a genetic disease associated with demyelination of the central nervous system, adrenal insufficiency, and accumulation of very long-chain fatty acids in tissue and body fluids.
P V Santosh Rai, B V Suresh, I G Bhat, Mithun Sekhar, Shrijeet Chakraborti   +4 more
doaj   +1 more source

HDAC inhibitor SAHA normalizes the levels of VLCFAs in human skin fibroblasts from X-ALD patients and downregulates the expression of proinflammatory cytokines in Abcd1/2-silenced mouse astrocytes

Journal of Lipid Research, 2011
X-adrenoleukodystrophy (X-ALD) is a peroxisomal metabolic disorder caused by mutations in the ABCD1 gene encoding the peroxisomal ABC transporter adrenoleukodystrophy protein (ALDP).
Jaspreet Singh, Mushfiquddin Khan, Inderjit Singh   +2 more
doaj   +1 more source