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2025 19
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Novel ABCD1 Variants in X-Linked Adrenoleukodystrophy.
Dong SW, Xiao LM, Sun YH, Li GH, Xie YX, Wang MW, Wang N, Chen WJ, Chen HZ. Dong SW, et al. Clin Genet. 2025 Oct;108(4):450-456. doi: 10.1111/cge.14752. Epub 2025 Apr 10. Clin Genet. 2025. PMID: 40210590
X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder caused by mutations in the ABCD1 gene. We reported the clinical features and genetic findings of 17 X-ALD patients. ...
X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder caused by mutations in the ABCD1 gene. We reported the clinical …
Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy.
Bougnères P, Le Stunff C. Bougnères P, et al. Genes (Basel). 2025 May 17;16(5):590. doi: 10.3390/genes16050590. Genes (Basel). 2025. PMID: 40428412 Free PMC article. Review.
BACKGROUND: X-ALD is a white matter (WM) disease caused by mutations in the ABCD1 gene encoding the transporter of very-long-chain fatty acids (VLCFAs) into peroxisomes. ...METHODS: This review discusses studies in mouse and drosophila models that have modified our views o …
BACKGROUND: X-ALD is a white matter (WM) disease caused by mutations in the ABCD1 gene encoding the transporter of very-long-chain fa …
Adrenoleukodystrophy: Current understanding of disease mechanisms, diagnosis, and therapeutic advances-a recent review.
Jain CK, Maurya S, Tripathi PK. Jain CK, et al. Brain Dev. 2025 Dec;47(6):104476. doi: 10.1016/j.braindev.2025.104476. Epub 2025 Oct 24. Brain Dev. 2025. PMID: 41138396 Review.
At the molecular level, ALD results from mutations in the ATP-binding cassette subfamily D member 1 (ABCD1) gene, which disrupts peroxisomal beta-oxidation, leading to the accumulation of very long-chain fatty acids (VLCFAs) and subsequent neurological damage. ...
At the molecular level, ALD results from mutations in the ATP-binding cassette subfamily D member 1 (ABCD1) gene, which disrupts pero …
Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy.
Onuki T, Tajika M, Sugiyama Y, Shimura M, Ichimoto K, Tanaka T, Nyuzuki H, Kosuga M, Migita O, Ito T, Sasai H, Bo R, Hamada J, Hamazaki T, Sakai N, Inoue T, Nakamura K, Okuyama T, Murayama K. Onuki T, et al. Orphanet J Rare Dis. 2025 Jul 24;20(1):373. doi: 10.1186/s13023-025-03848-4. Orphanet J Rare Dis. 2025. PMID: 40708026 Free PMC article.
Moreover, variant of unknown significance (VUS) in the ABCD1 gene was detected in many of the patients with suspected ALD. CONCLUSION: In Japan, Expanded NBS for LSDs and ALD has become more widespread. ...
Moreover, variant of unknown significance (VUS) in the ABCD1 gene was detected in many of the patients with suspected ALD. CONCLUSION …
An AAV-Based Therapy Approach for Neurological Phenotypes of X-Linked Adrenoleukodystrophy.
Gornostal E, Alsalloum A, Degtyarev E, Kuznetsova E, Levashova A, Mishina D, Mingaleva N, Mazloum A, Bogdanov V, Krupinova J, Mikhalkov S, Rybkina I, Mityaeva O, Volchkov P. Gornostal E, et al. Int J Mol Sci. 2025 Dec 1;26(23):11645. doi: 10.3390/ijms262311645. Int J Mol Sci. 2025. PMID: 41373793 Free PMC article. Review.
The development of a successful AAV-mediated gene therapy hinges on its ability to deliver ABCD1 cDNA effectively to the relevant organs and cell types, induce therapeutic levels of protein expression, and ultimately, restore normal very-long chain fatty acids (VLCFA) meta …
The development of a successful AAV-mediated gene therapy hinges on its ability to deliver ABCD1 cDNA effectively to the relevant org …
Rare causes of pediatric primary adrenal insufficiency: Data from a large nationwide Tunisian cohort.
Khalfallah R, Kallabi F, Mallet D, Guirat M, Kmiha S, Maaloul I, Hadj Kacem F, Chabchoub I, Aloulou H, Janot C, Boujelbene I, Gharbi N, Charfi N, Kanoun H, Belguith N, Morel Y, Hachicha M, Kamoun T, Abid M, Keskes L, Mnif M, Kamoun H, Roucher-Boulez F. Khalfallah R, et al. Ann Endocrinol (Paris). 2025 Sep;86(5):102461. doi: 10.1016/j.ando.2025.102461. Epub 2025 Oct 8. Ann Endocrinol (Paris). 2025. PMID: 41072758
Genetic analysis used a candidate gene approach (AAAS, ABCD1) and/or targeted enrichment with focused gene panels and next-generation sequencing (NGS). ...NGS revealed additional defects, including AAAS and ABCD1 variants in atypical cases (n=3). Other etiologies in …
Genetic analysis used a candidate gene approach (AAAS, ABCD1) and/or targeted enrichment with focused gene panels and next-generation …
Insights From Minnesota on Newborn Screening for Adrenoleukodystrophy: A 5-Year Update.
Rayannavar A, Billington CJ Jr, Tryon R, Kaye T, Gupta A, Lund TC, Lteif A, Adriatico K, Orchard PJ, Miller BS, Pillai NR. Rayannavar A, et al. Am J Med Genet A. 2025 May;197(5):e63995. doi: 10.1002/ajmg.a.63995. Epub 2025 Jan 13. Am J Med Genet A. 2025. PMID: 39803877
Data reviewed included newborn screening data, diagnostic very long chain fatty acid levels, ABCD1 molecular testing results, serial measurements of ACTH and cortisol, and serial brain MRI results. ...
Data reviewed included newborn screening data, diagnostic very long chain fatty acid levels, ABCD1 molecular testing results, serial …
Molecular mechanism of substrate transport by human peroxisomal ABCD3.
Gupta M, Khandelwal NK, Seka DJ, Balasubramani SG, Dickinson MS, Myasnikov A, Echeverria I, Stroud RM. Gupta M, et al. Proc Natl Acad Sci U S A. 2025 Dec 30;122(52):e2513928122. doi: 10.1073/pnas.2513928122. Epub 2025 Dec 22. Proc Natl Acad Sci U S A. 2025. PMID: 41428872
ATP-binding cassette transporters of the D subfamily (ABCD1-3) mediate the export of CoA thioesters of fatty acids from the cytosol into peroxisomes for further oxidation. ...
ATP-binding cassette transporters of the D subfamily (ABCD1-3) mediate the export of CoA thioesters of fatty acids from the cytosol i …
Genetic insights into non-obstructive azoospermia: Implications for diagnosis and TESE outcomes.
Sharifi S, Dursun M, Şahin A, Turan S, Altun A, Özcan Ö, Kalkanlı A, Çefle K, Öztürk Ş, Palanduz Ş, Kadıoğlu A. Sharifi S, et al. J Assist Reprod Genet. 2025 Apr;42(4):1223-1237. doi: 10.1007/s10815-025-03409-5. Epub 2025 Feb 11. J Assist Reprod Genet. 2025. PMID: 39932629 Free PMC article.
Of these, three genes-MEIOB, TERB1, and USP26-had been previously described in men, while eight genes-SPO11, RBBP7, STS, RBMXL3, ZCCHC13, HUWE1, ESR1, and ABCD1-had been reported in prior studies. Additionally, three genes-CEP85, NAP1L3, and CENPI-had been previously descr …
Of these, three genes-MEIOB, TERB1, and USP26-had been previously described in men, while eight genes-SPO11, RBBP7, STS, RBMXL3, ZCCHC13, HU …
Dietary Approaches in the Management of Adrenoleukodystrophy: Evidence Summary for Nutritional Tips.
Di Stefano A, Ricci L, Ferrari D, Frigerio F, Minnetti M, Fontana M, Donini LM, Isidori AM, Migliaccio S, Poggiogalle E. Di Stefano A, et al. Nutrients. 2025 Sep 30;17(19):3130. doi: 10.3390/nu17193130. Nutrients. 2025. PMID: 41097206 Free PMC article. Review.
Background: Adrenoleukodystrophy is a rare, inherited X-linked disease related to mutations in the ABCD1 gene. Peroxisomal beta-oxidation is impaired, underpinning the tissue accumulation of very long-chain fatty acids (VLCFAs), especially in the central nervous system (i. …
Background: Adrenoleukodystrophy is a rare, inherited X-linked disease related to mutations in the ABCD1 gene. Peroxisomal beta-oxida …
21 results