Results 81 to 90 of about 7,234,150 (180)

X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype

, 2020
Strikingly variable clinical phenotypes can be found in X-linked adrenoleukodystrophy (X-ALD) even with the same ABCD1 mutation. ABCD2 is the closest homolog to ABCD1. Since ABCD2 overexpression complements the loss of ABCD1 in vivo and in vitro, we have
Mayerhofer, PU, Maier, EM, Aubourg, P, Roscher, AA, Muntau, AC, Asheuer, M, Kohler, W, Berger, J, Rothe, M, Holzinger, A   +9 more
core   +2 more sources

A case of adrenomyeloneuropathy caused by a novel point mutation in the ABCD1 gene and functional verification

Frontiers in Genetics
Adrenoleukodystrophy is a rare neurogenetic disease, and adrenomyeloneuropathy is the most common phenotype in adults. The clinical data of a patient with adrenoleukodystrophy and spinal-peripheral neuropathy caused by a novel point mutation in exon 4 of
Xiaoxue Shi, Xiaoxue Shi, Xiaoxue Shi, Xuelin Qi, Xuelin Qi, Jinhua Zheng, Jinhua Zheng, Jinhua Zheng, Jianjun Ma, Jianjun Ma, Jianjun Ma, Dongsheng Li, Dongsheng Li, Dongsheng Li   +13 more
doaj   +1 more source

Distribution and cellular localization of adrenoleukodystrophy protein in human tissues: Implications for X-linked adrenoleukodystrophy

Neurobiology of Disease, 2007
Defects of adrenoleukodystrophy protein (ALDP) lead to X-linked adrenoleukodystrophy (X-ALD), a disorder mainly affecting the nervous system white matter and the adrenal cortex.
Romana Höftberger, Markus Kunze, Isabelle Weinhofer, Fahmy Aboul-Enein, Till Voigtländer, Iris Oezen, Gabriele Amann, Hanno Bernheimer, Herbert Budka, Johannes Berger   +9 more
doaj   +1 more source

Childhood Cerebral X-Linked Adrenoleukodystrophy More Than 5 Years After Hematopoietic Cell Transplantation: The First Case From Serbia and Southeastern Europe

, 2010
We report the clinical course, brain magnetic resonance imaging (MRI), and proton magnetic resonance spectroscopy findings in a boy with childhood cerebral X-linked adrenoleukodystrophy whose neurological disease keeps progressing more than 5 years ...
Attilio M. Rovelli, Graziella Uziel, Ana Potic, Jelena Mladenovic, Dusko Kozic, Vedrana Milic-Rasic   +5 more
core   +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

A review of genetic modification for ex vivo cellular therapies

Transfusion, Volume 66, Issue S2, Page S45-S57, September 2026.
Anh Dinh, Nan Zhang, David Stroncek
wiley   +1 more source

A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report [PDF]

, 2015
International audienceAbstractBackgroundX-linked adrenoleukodystrophy (X-ALD; OMIM: 300100) is the most common peroxisomal disease caused by mutations in the ATP-binding cassette, sub-family D member 1 gene or ABCD1 (geneID: 215), the coding gene for the
Ilham Slassi, Fettah, Houda, Houda Fettah, Odile Boespflug-Tanguy, Imen Dorboz, Bakhchane, Amina, Slassi, Ilham, Nadifi, Sellama, Sellama Nadifi, Boespflug-Tanguy, Odile, Dorboz, Imen, Karkar, Adnane, Barakat, Abdelhamid, Abdelhamid Barakat, Adnane Karkar, Amina Bakhchane   +15 more
core   +1 more source

Disease progression in women with X-linked adrenoleukodystrophy is slow

Orphanet Journal of Rare Diseases, 2019
Background Over 80% of women with X-linked adrenoleukodystrophy (ALD) develop spinal cord disease in adulthood for which treatment is supportive only. For future clinical trials quantitative data on disease progression rates are essential.
Irene C. Huffnagel, Marcel G. W. Dijkgraaf, Georges E. Janssens, Michel van Weeghel, Björn M. van Geel, Bwee Tien Poll-The, Stephan Kemp, Marc Engelen   +7 more
doaj   +1 more source

Central precocious puberty in a boy with X-linked adrenoleukodystrophy caused by a novel ABCD1 mutation

Heliyon
X-linked adrenoleukodystrophy (X-ALD) is a rare genetic disorder caused by pathogenic variants in the ABCD1 gene. The symptoms include primary adrenal insufficiency (PAI), progressive spinal cord disease, inflammatory demyelinating cerebral disease, and ...
Chaoyue Zhao, Hanhong Zhu, Jie Wang, Wenlong Liu, Yongzhen Xue, Yanyan Hu   +5 more
doaj   +1 more source

Clinical, biochemical and genetic profiling of X-linked adrenoleukodystrophy in Egyptian pediatric patients: a hospital-based study

Egyptian Journal of Medical Human Genetics
Background X-linked adrenoleukodystrophy, the most common peroxisomal disorder, is caused by ABCD1 gene mutations. This genetic disorder is characterized by the defective degradation of very long-chain fatty acids.
Dina A. Mehaney, Laila A. Selim, Dina A. Ezzat, Mohamed Shehata, Zeinab S. Seleim, Abeer Atef El-Ashmawy, Cristiano Rizzo, Carlo Dioniasi-Vici, Doaa M. Abdou, Sarah EL-Sayegh   +9 more
doaj   +1 more source