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Amir Boukhris, Rebecca Schule, José L

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1 Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia 
Amir Boukhris, Rebecca Schule, José L. Loureiro, Charles Marques Lourenço, Emeline Mundwiller, Michael A. Gonzalez, Perrine Charles, Julie Gauthier, Imen Rekik, Rafael F. Acosta Lebrigio, Marion Gaussen, Fiorella Speziani, Andreas Ferbert, Imed Feki, Andrés Caballero-Oteyza, Alexandre Dionne-Laporte, Mohamed Amri, Anne Noreau, Sylvie Forlani, Vitor T. Cruz, Fanny Mochel, Paula Coutinho, Patrick Dion, Chokri Mhiri, Ludger Schols, Jean Pouget, Frédéric Darios, Guy A. Rouleau, Wilson Marques, Alexis Brice, Alexandra Durr, Stephan Zuchner, Giovanni Stevanin  The American Journal of Human Genetics  Volume 93, Issue 1, Pages (July 2013) DOI: /j.ajhg Copyright © 2013 The American Society of Human Genetics Terms and Conditions

2 Figure 1 SPG26 Pedigrees and Segregation of the Mutations Detected in B4GALNT1 Square symbols indicate males and circles indicate females. Filled symbols indicate affected individuals. The numbers are an internal reference for each sampled individual. Stars indicate sampled subjects. Abbreviations are as follows: M, mutation; +, wild-type. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2013 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Schematic Representation of B4GALNT1/SPG26 and Location of the Mutations (A) Exon-intron structure of B4GALNT1, with positions of mutations identified in seven SPG26-affected families. Exons are indicated as black boxes. The region encoding a functional domain is indicated by blue bars. (B) Phylogenetic conservation of three amino acids mutated in SPG26-affected individuals. (C) Electropherograms of the mutations identified. Mutation nomenclature is in agreement with ALAMUT 2.2 and Mutalyzer software with transcript NM_ The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2013 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Simplified Representation of Ganglioside Metabolism and Their Related Disorders Arrows indicate the orientation of the enzymatic reactions and the corresponding enzymes are indicated in black. Metabolic diseases are indicated in blue at the corresponding altered reaction. Ganglioside formation is performed in the endoplasmic reticulum and Golgi by successive glycosylations. Their degradation takes place in lysosomes. Abbreviations are as follows: hex, hexosaminidase; Gb3, globotrioaosylceramide; GBA, glucocerebrosidase; GD, disialic ganglioside; GALC, galactosylceramide-beta-galactosidase; GLA, alpha galactosidase; GLB, beta galactosidase; GM, monosialic ganglioside; GT, trisialic ganglioside; GT3 synthase, alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase; MLD, metachromatic leukodystrophy; Sap, saposin. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2013 The American Society of Human Genetics Terms and Conditions

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