Article
Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte-lineage cells established from patients with Sjögren-Larsson syndrome.
Congenital anomalies - 1 Jan 2000
Yamaguchi Yu, Okuno Hironobu, Tokuoka Suzumi, Kita Yoshihiro, Sanosaka Tsukasa, Kohyama Jun, Kurosawa Kenji, Sakai Norio, Miya Fuyuki, Takahashi Takao, Kosaki Kenjiro, Okano Hideyuki
Abstract excerpt
Sjögren-Larsson syndrome (SLS) is an autosomal recessive leukodystrophy characterized by ichthyosis, intellectual disability, and progressive spastic paralysis caused by biallelic pathogenic variants in the ALDH3A2 gene that encodes the fatty aldehyde dehydrogenase, fatty aldehyde dehydrogenase (FALDH); FALDH catalyzes several metabolic reactions involved in fatty aldehyde oxidation. Only a few studies have been...
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