Article
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Brain : a journal of neurology - 3 Jun 2024
Liu James, He Yi, Lwin Cara, Han Marina, Guan Bin, Naik Amelia, Bender Chelsea, Moore Nia, Huryn Laryssa A, Sergeev Yuri V, Qian Haohua, Zeng Yong, Dong Lijin, Liu Pinghu, Lei Jingqi, Haugen Carl J, Prasov Lev, Shi Ruifang, Dollfus Hélène, Aristodemou Petros, Laich Yannik, Németh Andrea H, Taylor John, Downes Susan, Krawczynski Maciej R, Meunier Isabelle, Strassberg Melissa, Tenney Jessica, Gao Josephine, Shear Matthew A, Moore Anthony T, Duncan Jacque L, Menendez Beatriz, Hull Sarah, Vincent Andrea L, Siskind Carly E, Traboulsi Elias I, Blackstone Craig, Sisk Robert A, Miraldi Utz Virginia, Webster Andrew R, Michaelides Michel, Arno Gavin, Synofzik Matthis, Hufnagel Robert B
Abstract excerpt
Biallelic pathogenic variants in the PNPLA6 gene cause a broad spectrum of disorders leading to gait disturbance, visual impairment, anterior hypopituitarism and hair anomalies. PNPLA6 encodes neuropathy target esterase (NTE), yet the role of NTE dysfunction on affected tissues in the large spectrum of associated disease remains unclear. We present a systematic evidence-based review of a novel cohort of 23 new...
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