A Novel Mouse Model for Cerebral Inflammatory Demyelination in X‐Linked Adrenoleukodystrophy: Insights into Pathogenesis and Potential Therapeutic Targets
Our results suggest loss of Abcd1 function in mice predisposes to more severe blood-brain barrier disruption, cerebral inflammation driven by the infiltration of peripheral immune cells, demyelination, and axonal damage, replicating human cALD features. This novel mouse model could shed light on cALD mechanisms and accelerate cALD therapy development. ANN NEUROL 2025;97:296-312.
Authors
- Katerina Akassoglou (ORCID: https://orcid.org/0000-0002-2632-1465)
- William H. Robinson (ORCID: https://orcid.org/0000-0003-4385-704X)
- Shahrzad Talebian (ORCID: https://orcid.org/0000-0003-4470-2170)
- Avni Awani
- Esha Kaushal
- Patricia L. Musolino (ORCID: https://orcid.org/0000-0001-8724-5649)
- Troy C. Lund (ORCID: https://orcid.org/0000-0001-9174-8919)
- May Han (ORCID: https://orcid.org/0000-0002-0955-6641)
- Ezra Yoseph (ORCID: https://orcid.org/0000-0002-4184-9292)
- Laura Pisani (ORCID: https://orcid.org/0000-0003-3084-3300)
- Paul J. Orchard (ORCID: https://orcid.org/0000-0001-9426-1292)
- Hannes Vogel (ORCID: https://orcid.org/0000-0002-0960-3508)
- Orr Sharpe (ORCID: https://orcid.org/0000-0003-1986-7555)
- Ezzat Hashemi (ORCID: https://orcid.org/0000-0003-0868-4331)
- Joshua L. Bonkowsky (ORCID: https://orcid.org/0000-0001-8775-147X)
- Keith Van Haren (ORCID: https://orcid.org/0000-0002-0233-9361)
- Lawrence Steinman (ORCID: https://orcid.org/0000-0002-2437-2250)
- Isha N. Srivastava
- Kristian P. Doyle (ORCID: https://orcid.org/0000-0003-2788-7038)
- Alejandro Aguirre (ORCID: https://orcid.org/0000-0002-3390-8301)
- Romain Cayrol (ORCID: https://orcid.org/0000-0003-2745-2704)
- Jae Kyu Ryu (ORCID: https://orcid.org/0000-0002-3992-4011)
- Max Lenail
- Pauline Chu (ORCID: https://orcid.org/0000-0001-6561-6453)
Institutions
- University of Minnesota (US)
- Gladstone Institutes (US)
- Primary Children's Hospital (US)
- University of Arizona (US)
- University of California, San Francisco (US)
- University of Utah (US)
- Massachusetts General Hospital (US)
- Children's Center (US)
- Université de Montréal (CA)
- Stanford University (US)
Publication Details
- Journal
- Annals of Neurology
- Published
- 2024-10-28
- DOI
- https://doi.org/10.1002/ana.27117
- Citations
- 3
- Primary Topic
- Peroxisome Proliferator-Activated Receptors
- Type
- article
- Field-Weighted Citation Impact
- 0.70
Funders
- Division of Microbiology and Infectious Diseases, National Institute of Allergy and Infectious Diseases