Supplementary Materials

Supplementary Material for:

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

Bradley N. Smith, Simon D. Topp, Claudia Fallini, Hideki Shibata, Han-Jou Chen, Claire Troakes, Andrew King, Nicola Ticozzi, Kevin P. Kenna, Athina Soragia-Gkazi, Jack W. Miller, Akane Sato, Diana Marques Dias, Maryangel Jeon, Caroline Vance, Chun Hao Wong, Martina de Majo, Wejdan Kattuah, Jacqueline C. Mitchell, Emma L. Scotter, Nicholas W. Parkin, Peter C. Sapp, Matthew Nolan, Peter J. Nestor, Michael Simpson, Michael Weale, Monkel Lek, Frank Baas, J. M. Vianney de Jong, Anneloor L. M. A. ten Asbroek, Alberto Garcia Redondo, Jesús Esteban-Pérez, Cinzia Tiloca, Federico Verde, Stefano Duga, Nigel Leigh, Hardev Pall, Karen E. Morrison, Ammar Al-Chalabi, Pamela J. Shaw, Janine Kirby, Martin R. Turner, Kevin Talbot, Orla Hardiman, Jonathan D. Glass, Jacqueline de Belleroche, Masatoshi Maki, Stephen E. Moss, Christopher Miller, Cinzia Gellera, Antonia Ratti, Safa Al-Sarraj, Robert H. Brown Jr., Vincenzo Silani, John E. Landers, Christopher E. Shaw*

*Corresponding author. Email: chris.shaw{at}kcl.ac.uk

Published 3 May 2017, Sci. Transl. Med. 9, eaad9157 (2017)
DOI: 10.1126/scitranslmed.aad9157

This PDF file includes:

  • Fig. S1. The ANXA11 p.D40G mutation shares a common haplotype composed of four exonic SNPs and two microsatellites.
  • Fig. S2. Haplotype gene map of the ANXA11 p.D40G locus.
  • Fig. S3. Annexin A11 Western blot of lysates made from postmortem tissue of the SALS patient harboring the p.D40G mutation and control individuals.
  • Fig. S4. p.R235Q ANXA11-GFP colocalizes with ubiquitin and p62 in HEK cells.
  • Fig. S5. Modeling of annexin A11 identifies two amphipathic helices in the N terminus of annexin A11 that overlap with the G38 and D40 residues.
  • Fig. S6. Twenty-two ExAC polymorphisms spanning the D40 locus do not disrupt the formation of amphipathic helices.
  • Fig. S7. Rare and common ANXA11 polymorphisms do not disrupt calcyclin binding compared to ALS-specific variants.
  • Fig. S8. N-terminal annexin A11 mutations do not alter binding of sorcin and ALG-2.

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Other Supplementary Material for this manuscript includes the following:

  • Table S1 (Microsoft Excel format). New variants shared between members of each familial ALS family.
  • Table S2 (Microsoft Excel format). New variants shared between ANXA11 p.D40G families.
  • Table S3 (Microsoft Excel format). Homogeneity of the FALS cohort and ExAC NFEs.
  • Table S4 (Microsoft Excel format). Primer sequences used in the ANXA11 p.D40G haplotype study and for Sanger sequencing of ANXA11 exons.
  • Table S5 (Microsoft Excel format). Exon coverage data of genes within the minimal p.D40G haplotype region.
  • Table S6 (Microsoft Excel format). All variants found within ANXA11 in FALS and SALS.
  • Table S7 (Microsoft Excel format). Clinical details of patients with ANXA11 mutations.

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