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Local accumulation of very long-chain PUFA in plexiform layers associates with retinal dysfunction in a mouse model of peroxisomal ACBD5-deficiency

Abstract Patients deficient in the peroxisomal membrane protein ACBD5 regularly exhibit a dystrophy of the retina along with decline in visual acuity. Despite the prevalent retinal phenotype, information on the pathogenesis of the retinodystrophy is limited. To gain insight into the cellular, subcel...

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Furkejuvvon:
Váldodahkkit: Julia Merz, Elisabeth Müller, Warda Darwisch, Richard Fairless, Yixin Wang, Silke Vorwald, Sharau Darwisch, E. Ronald Curticean, Feng Shao, Irene Wacker, Rasmus R. Schröder, Claudia Pitzer, Christian Schultz, Jan-Bert van Klinken, Frederic M. Vaz, Frank Kratzer, Kathrin Schwarz, Jürgen G. Okun, Yuxi Feng, Carsten Hopf, Markus Islinger
Materiálatiipa: Artigo
Giella:Inglês
Almmustuhtton: Springer 2025-12-01
Ráidu:Cellular and Molecular Life Sciences
Fáttát:
Peroxisomes
Metabolic disorders
Retinodystrophy
Very long-chain fatty acids (VLCFA)
RDLKD (ACBD5-deficiency)
Liŋkkat:https://doi.org/10.1007/s00018-025-05971-8
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