Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders

Borgia, P; Baldassari, S; Pedemonte, N; Alkhunaizi, E; D'Onofrio, G; Tortora, D; Cali, E; Scudieri, P; Balagura, G; Musante, I; Diana, MC; Pedemonte, M; Vari, MS; Iacomino, M; Riva, A; Chimenz, R; Mangano, GD; Mohammadi, MH; Toosi, MB; Ashrafzadeh, F; Imannezhad, S; Karimiani, EG; Accogli, A; Schiaffino, MC; Maghnie, M; Soler, MA; Echiverri, K; Abrams, CK; Striano, P; Fortuna, S; Maroofian, R; Houlden, H; Zara, F; Fiorillo, C; Salpietro, V

Fiorillo, C (通讯作者),Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-16132 Genoa, Italy.;Fiorillo, C (通讯作者),IRCCS Giannina Gaslini Inst, Pediat Neurol & Muscular Dis Unit, I-16147 Genoa, Italy.;Salpietro, V (通讯作者),UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London WC1N 3BG, England.;Salpietro, V (通讯作者),Univ Aquila, Dept Biotechnol & Appl Clin Sci, I-67100 Laquila, Italy.

ORPHANET JOURNAL OF RARE DISEASES, 2022; 17 (1):

Abstract

Background Pathogenic variants in PEX-genes can affect peroxisome assembly and function and cause Zellweger spectrum disorders (ZSDs), characterized b......

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