Additional file 1 of Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
Creators: name: Borgia, Paola
name: Baldassari, Simona
name: Pedemonte, Nicoletta
name: Alkhunaizi, Ebba
name: D’Onofrio, Gianluca
name: Tortora, Domenico
name: Calì, Elisa
name: Scudieri, Paolo
name: Balagura, Ganna
name: Musante, Ilaria
name: Diana, Maria Cristina
name: Pedemonte, Marina
name: Vari, Maria Stella
name: Iacomino, Michele
name: Riva, Antonella
name: Chimenz, Roberto
name: Mangano, Giuseppe D.
name: Mohammadi, Mohammad Hasan
name: Toosi, Mehran Beiraghi
name: Ashrafzadeh, Farah
name: Imannezhad, Shima
name: Karimiani, Ehsan Ghayoor
name: Accogli, Andrea
name: Schiaffino, Maria Cristina
name: Maghnie, Mohamad
name: Soler, Miguel Angel
name: Echiverri, Karl
name: Abrams, Charles K.
name: Striano, Pasquale
name: Fortuna, Sara
name: Maroofian, Reza
name: Houlden, Henry
name: Zara, Federico
name: Fiorillo, Chiara
name: Salpietro, Vincenzo
Publisher: name: figshare
Year: 2022
Subjects: subject: Biochemistry
subject: Medicine
subject: Genetics
subject: FOS: Biological sciences
subject: Sociology
subject: FOS: Sociology
subject: 69999 Biological Sciences not elsewhere classified

description: Additional file 1: Additional Table 1. Plasma biochemical analyses in PEX13-variants carriers. Legend: VLCFAs (very long chain fatty acids): C22:0 docosanoate, C24:0 tetracosanoate, C26:0 hexacosenoate, NA not available. Additional Figure 1. Sanger sequencing representative of the p.Arg294Trp variant. Electropherogram of individual A.II-3 (A) showing p.Arg294Trp variant inherited from his father (B). Electropherogram of individual A.II-3 (C) showing p.Y192QfsTer.14 variant inherited from his mother (D). Additional Figure 2. Electroencephalography (EEG) of individual D.II-3. EEG performed at one day of life (A) showing numerous multifocal sharp waves, especially on the temporal regions bilaterally, in the context of continuous electrical activity. EEG control performed at one month of age (B) in the same individual. A slightly hypovolted theta-delta background activity with a reduction in multifocal sharp-waves are observed. Additional Figure 3. Fundoscopy examination of individual E.II-1. Note the cherry-red spot of the macula and the diffuse white dots. Additional Figure 4. Modelling. Comparison between molecular dynamics simulation snapshots at 0ns (dark) and 250ns (light) for (A) PEX13-WT:PEX14:PEX5 tetramer; (B) PEX13 Arg294Trp:PEX14:PEX5 tetramer. Configurations were obtained by PEX13 homology modelling followed by 500ns of molecular dynamics simulations followed by blind docking to PEX14:PEX5. Color code: PEX13-WT (green), PEX13-Arg294Trp (magenta), PEX14 (white), PEX5 (blue). Arg and Trp 294 are highlighted in PEX13-WT and PEX13-Arg294Trp, respectively. Additional Figure 5. Modelling. A collection of possible homodimeric conformations for (A) PEX13-WT and (B) PEX13-Arg294Trp. Representative conformations of the first eight clusters identified by blind docking. Arg294 is highlighted in PEX13-WT (green) and Trp294 is highlighted in PEX13-Arg294Trp (magenta). Additional Figure 6. Closest contact distance distribution. The closest distance between Arg294 (green) [Trp294 (mauve)] and its binding partner in PEX13:PEX13 homodimers calculated over all the generated docking poses.