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Results for

""ATP Binding Cassette Transporter, Subfamily D""[mesh_terms]

10 Results

Searching titles within these results

ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human Disease.

Kosuke Kawaguchi, Masashi Morita

BioMed research international 2017;2016():6786245

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Brainstem dominant form of X-linked adrenoleukodystrophy with a novel ABCD1 missense variant: A case report and literature review.

Zhuo Min, Lili Zhang, Lu Guo, Lei Zhang, Chunhua Tang, Yulai Kang

Molecular genetics & genomic medicine 2024;12(7):e2499

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

Eric J Mallack, Kerry Gao, Marc Engelen, Stephan Kemp

Cells 2022;11(2):

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Regulation of the adrenoleukodystrophy-related gene (ABCD2): focus on oxysterols and LXR antagonists.

Doriane Trompier, Catherine Gondcaille, Gérard Lizard, Stéphane Savary

Biochemical and biophysical research communications 2014;446(3):651-5

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Effects of combined nutritional interventions on the natural history of X-linked adrenoleukodystrophy in female carriers.

Davide Ferrari, Maria Rita Spreghini, Graziamaria Ubertini, Enrico Silvio Bertini, Chiara Aiello, Maurizio Petrarca, Antonio Petrucci, Cristiano Rizzo, Andrea M Isidori, Marco Cappa

Journal of neuroendocrinology 2026;38(9):e70270

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Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy.

Jörn-Sven Kühl, Christine N Duncan, Bartosz Grzywacz, Florian S Eichler, David A Williams, Vinod K Prasad, Gerald F Downey, Geoffrey Parsons, Nicole Floro, Marianna Foos, Melissa A Kinney, Sarah Slauson, Marian H Harris, Amy Beckman, Jacob R Bledsoe, Ashish O Gupta, Ankit Lodaya, Himal L Thakar, Francis J Pierciey, Melissa Bonner, Andrew C Dietz, Richard A Colvin, Paul J Orchard

The New England journal of medicine 2024;391(14):1287-1301

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Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.

Ashish O Gupta, Gerald F Downey, Juliana Folloni Fernandes, Hernan Amartino, Satiro De Oliveira, Troy C Lund, Himal L Thakar, Raman Sankar, Paul Gissen, Andrew C Dietz, Adrian J Thrasher, Paul J Orchard, Elizabeth McNeil, Caroline Sevin, Daniel J Loes, Jörn-Sven Kühl, Christine N Duncan, Jean-Hugues Dalle, Shaun A Hussain, Uwe Platzbecker, Florian Eichler, Patrick Aubourg, Laura Demopoulos, David A Williams, Patricia L Musolino, Nicholas Smith

The New England journal of medicine 2024;391(14):1302-1312

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Improving the understanding of human genetic diseases through predictions of protein structures and protein-protein interaction sites.

Huan-Xiang Zhou

Current medicinal chemistry 2004;11(5):539-49

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Adrenoleukodystrophy siblings with a novel ABCD1 missense variant presenting with phenotypic differences: a case report and literature review.

Hiroyuki Ishiura, Yuka Shibata, Masaaki Matsushima, Takashi Matsukawa, Shoji Tsuji, Ichiro Yabe

Journal of human genetics 2021;66(5):535-537

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Clinical consequences of defects in peroxisomal beta-oxidation.

P T Clayton

Biochemical Society transactions 2001;29(Pt 2):298-305

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Results for ""ATP Binding Cassette Transporter, Subfamily D""[mesh_terms]

ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human Disease.

Brainstem dominant form of X-linked adrenoleukodystrophy with a novel ABCD1 missense variant: A case report and literature review.

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

Regulation of the adrenoleukodystrophy-related gene (ABCD2): focus on oxysterols and LXR antagonists.

Effects of combined nutritional interventions on the natural history of X-linked adrenoleukodystrophy in female carriers.

Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy.

Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.

Improving the understanding of human genetic diseases through predictions of protein structures and protein-protein interaction sites.

Adrenoleukodystrophy siblings with a novel ABCD1 missense variant presenting with phenotypic differences: a case report and literature review.

Clinical consequences of defects in peroxisomal beta-oxidation.

Results for

""ATP Binding Cassette Transporter, Subfamily D""[mesh_terms]