Results 61 to 70 of about 2,524,227 (174)

Overview of genetic mutations causing adrenoleukodystrophy: A case-series study

Molecular Genetics and Metabolism Reports
X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder resulted from mutations in the ABCD1 gene located at the Xq28 locus. This gene encodes a transporter protein responsible for importing very-long-chain fatty acids into peroxisomes. This research
Mohadeseh Fathi, Sheyda Khalilian, Arezou Sayad, Parvaneh Karimzadeh, Farzad Ahmadabadi, Soudeh Ghafouri-Fard, Mohammad Miryounesi   +6 more
doaj   +1 more source

S149R, a novel mutation in theABCD1gene causing X-linked adrenoleukodystrophy

Oncotarget, 2017
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. It is a heterogeneous disorder caused by mutations in the ATP-binding cassette protein subfamily D1 (ABCD1) gene, encoding the peroxisomal membrane protein ALDP, which is involved in the transmembrane transport of very long-chain fatty acids.
Yan, Fang, Wang, Wenbo, Ying, Hui, Li, Hongyu, Chen, Jing, Xu, Chao   +5 more
openaire   +3 more sources

A de novo large deletion of 2.8 kB produced in ABCD1 gene causing Adrenoleukodystrophy disease [PDF]

, 2016
X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder caused by mutations in the ABCD1 gene that encodes an ATP-binding cassette transporter protein, ALDP.
Tebib, Neji, Ben Chehida, Amel, Ben Turkia, Hadhami, Tabebi, Mouna, Felhi, Rahma, Keskes, Leila, Kallabi, Fakhri, Ben Salah, Ghada, Kamoun, Hassen   +8 more
core   +1 more source

Prognostic Value of Neurofilament Light Chain and Glial Fibrillary Acidic Protein in ALD‐Related Myelopathy

Annals of Clinical and Translational Neurology, Volume 13, Issue 10, Page 2114-2123, October 2026.
ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak, Marije M. C. Voermans, Hans Heijst, Charlotte E. Teunissen, Marc Engelen   +4 more
wiley   +1 more source

Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy

Cells, 2022
The progressive neurometabolic disorder X-linked adrenoleukodystrophy (ALD) is caused by pathogenic variants in the ABCD1 gene, which encodes the peroxisomal ATP-binding transporter for very-long-chain fatty acids.
Eric J. Mallack, Kerry Gao, Marc Engelen, Stephan Kemp   +3 more
doaj   +1 more source

Leukodystrophy in Tanzania: A Case Study Highlighting Diagnostic Dilemmas and Clinical Implications

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Leukodystrophies are rare inherited neurodegenerative disorders characterized by progressive white matter dysfunction and neurological decline. In low‐resource settings, limited access to advanced neuroimaging, biochemical investigations, and genetic testing often delays diagnosis and complicates differentiation from more common infectious ...
William Nkenguye, Mujaheed Suleman, Jay Lodhia   +2 more
wiley   +1 more source

Myelin Impairment and Regeneration in the Central Nervous System: Molecular Mechanisms, Diseases, and Prospective Therapeutic Targets

MedComm, Volume 7, Issue 10, October 2026.
Proper myelin formation is crucial for normal neural circuit function, while myelin deficiency can lead to neural circuit dysfunction and cognitive decline, notably in Alzheimer's disease and other central nervous system demyelinating disorders. This review summarizes central myelin's structure and function, demyelination biomarkers and pathological ...
Lihong Huang, Peng Cheng, Guangdong Liu, Yang Xiang, Zhen Hong, Weidong Le   +5 more
wiley   +1 more source

A Novel Variant in ABCD1 Gene Presenting as Adolescent-Onset Atypical Adrenomyeloneuropathy With Spastic Ataxia [PDF]

Frontiers in Neurology, 2018
X-linked adrenoleukodystrophy (X-ALD) is a rare neurological disorder with a highly complex clinical presentation. Adrenal function, spinal cord, peripheral nerves, and cerebral white matter are commonly affected in adult-onset male patients. Here, we report a family with unusual presentation of X-ALD.
Yanxing Chen, Jianfang Zhang, Jianwen Wang, Kang Wang   +3 more
openaire   +3 more sources

A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy

Case Reports in Genetics, 2019
Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder with classical features, which can be also recognised in a low resource setting. It had been described in various populations across the globe, but very few cases have been reported from ...
M. C. J. Dekker, A. M. Sadiq, R. Mc Larty, R. M. Mbwasi, M. A. A. P. Willemsen, H. R. Waterham, B. C. Hamel   +6 more
doaj   +1 more source

Association of the CCR5 gene with juvenile idiopathic arthritis [PDF]

, 2010
The CC chemokine receptor 5 (CCR5) has been shown to be important in the recruitment of T-helper cells to the synovium, where they accumulate, drive the inflammatory process and the consequent synovitis and joint destruction.
Martin, P., BSPAR Study Group, Barton, A., UKRAG Consortium, Worthington, J., Gardner-Medwin, J. [CAPS and BSPAR Study Groups], Thomson, W., W Thomson, Flynn, E., A Hinks, E Flynn, J Packham, Packham, J., Hinks, A., S Eyre, J Worthington, Eyre, S.; id_orcid, Eyre, S., Barton, A.; id_orcid, P Martin, Childhood Arthritis Prospective Study (CAPS), Martin, P.; id_orcid, A Barton   +22 more
core   +1 more source