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2. Response to Provincial Governments’ Decisions Regarding Monitoring for Adults with Spinal Muscular Atrophy

Author

Hodgkinson, Victoria L., primary, Chapman, Kristine, additional, Izenberg, Aaron, additional, Lochmüller, Hanns, additional, O’Connell, Colleen, additional, O’Ferrall, Erin K., additional, Oskoui, Maryam, additional, Pfeffer, Gerald, additional, Plamondon, Stephanie, additional, Rodrigue, Xavier, additional, Shoesmith, Christen, additional, Warman-Chardon, Jodi, additional, Brais, Bernard, additional, Korngut, Lawrence, additional, and Schellenberg, Kerri, additional

Published
2020
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3. A National Spinal Muscular Atrophy Registry for Real-World Evidence

Author

Hodgkinson, Victoria L., primary, Oskoui, Maryam, additional, Lounsberry, Joshua, additional, M’Dahoma, Saïd, additional, Butler, Emily, additional, Campbell, Craig, additional, MacKenzie, Alex, additional, McMillan, Hugh J., additional, Simard, Louise, additional, Vajsar, Jiri, additional, Brais, Bernard, additional, Chapman, Kristine M., additional, Chrestian, Nicolas, additional, Crone, Meghan, additional, Dobrowolski, Peter, additional, Dojeiji, Susan, additional, Dowling, James J., additional, Dupré, Nicolas, additional, Genge, Angela, additional, Gonorazky, Hernan, additional, Hasal, Simona, additional, Izenberg, Aaron, additional, Johnston, Wendy, additional, Leung, Edward, additional, Lochmüller, Hanns, additional, Mah, Jean K., additional, Marerro, Alier, additional, Massie, Rami, additional, McAdam, Laura, additional, McCormick, Anna, additional, Melanson, Michel, additional, Mezei, Michelle M., additional, Nguyen, Cam-Tu E., additional, O’Connell, Colleen, additional, O’Ferrall, Erin K., additional, Pfeffer, Gerald, additional, Phan, Cecile, additional, Plamondon, Stephanie, additional, Poulin, Chantal, additional, Rodrigue, Xavier, additional, Schellenberg, Kerri L., additional, Selby, Kathy, additional, Sheriko, Jordan, additional, Shoesmith, Christen, additional, Smith, Garth, additional, Taillon, Monique, additional, Taylor, Sean, additional, Warman Chardon, Jodi, additional, Worley, Scott, additional, and Korngut, Lawrence, additional

Published
2020
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4. The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers

Author

Fieten, Hille, Gill, Yadvinder, Martin, Alan J, Concilli, Mafalda, Dirksen, Karen, van Steenbeek, Frank G, Spee, Bart, van den Ingh, Ted S G A M, Martens, Ellen C C P, Festa, Paola, Chesi, Giancarlo, van de Sluis, Bart, Houwen, Roderick H J H, Watson, Adrian L, Aulchenko, Yurii S, Hodgkinson, Victoria L, Zhu, Sha, Petris, Michael J, Polishchuk, Roman S, Leegwater, Peter A J, Rothuizen, Jan, LS Interne geneeskunde, Spoedkliniek Gezelschapsdieren Midden-NL, Onderzoek, Universitair Veterinair Diagnostisch Lab, dCSCA RMSC-1, dCSCA AVR, LS Interne geneeskunde, Spoedkliniek Gezelschapsdieren Midden-NL, Onderzoek, Universitair Veterinair Diagnostisch Lab, dCSCA RMSC-1, dCSCA AVR, Center for Liver, Digestive and Metabolic Diseases (CLDM), and Restoring Organ Function by Means of Regenerative Medicine (REGENERATE)

Subjects
0301 basic medicine, Male, Medicine (miscellaneous), lcsh:Medicine, PROTEIN, medicine.disease_cause, Endoplasmic Reticulum, 0403 veterinary science, Immunology and Microbiology (miscellaneous), Hepatolenticular Degeneration, Dog, Missense mutation, Menkes Kinky Hair Syndrome, Non-U.S. Gov't, Cation Transport Proteins, POPULATION, Genetics, Adenosine Triphosphatases, education.field_of_study, Mutation, Research Support, Non-U.S. Gov't, POLARIZED HEPATIC CELLS, MURINE MODEL, 04 agricultural and veterinary sciences, Hep G2 Cells, ASSOCIATION, Phenotype, Liver, Female, lcsh:RB1-214, Research Article, STORAGE, Genotype, 040301 veterinary sciences, Population, ATP7A, Molecular Sequence Data, Neuroscience (miscellaneous), Mutation, Missense, chemistry.chemical_element, Biology, Research Support, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Dogs, ATP7B, medicine, lcsh:Pathology, Journal Article, Animals, Humans, TRAFFICKING, Amino Acid Sequence, education, Sequence Homology, Amino Acid, MUTATIONS, lcsh:R, Genetic Variation, Sequence Analysis, DNA, medicine.disease, Copper, Protein Structure, Tertiary, Disease Models, Animal, 030104 developmental biology, chemistry, Copper-Transporting ATPases, ATPASE, Menkes disease, Copper deficiency, Genome-Wide Association Study
Abstract

The deleterious effects of a disrupted copper metabolism are illustrated by hereditary diseases caused by mutations in the genes coding for the copper transporters ATP7A and ATP7B. Menkes disease, involving ATP7A, is a fatal neurodegenerative disorder of copper deficiency. Mutations in ATP7B lead to Wilson disease, which is characterized by a predominantly hepatic copper accumulation. The low incidence and the phenotypic variability of human copper toxicosis hamper identification of causal genes or modifier genes involved in the disease pathogenesis. The Labrador retriever was recently characterized as a new canine model for copper toxicosis. Purebred dogs have reduced genetic variability, which facilitates identification of genes involved in complex heritable traits that might influence phenotype in both humans and dogs. We performed a genome-wide association study in 235 Labrador retrievers and identified two chromosome regions containing ATP7A and ATP7B that were associated with variation in hepatic copper levels. DNA sequence analysis identified missense mutations in each gene. The amino acid substitution ATP7B:p.Arg1453Gln was associated with copper accumulation, whereas the amino acid substitution ATP7A:p.Thr327Ile partly protected against copper accumulation. Confocal microscopy indicated that aberrant copper metabolism upon expression of the ATP7B variant occurred because of mis-localization of the protein in the endoplasmic reticulum. Dermal fibroblasts derived from ATP7A:p.Thr327Ile dogs showed copper accumulation and delayed excretion. We identified the Labrador retriever as the first natural, non-rodent model for ATP7B-associated copper toxicosis. Attenuation of copper accumulation by the ATP7A mutation sheds an interesting light on the interplay of copper transporters in body copper homeostasis and warrants a thorough investigation of ATP7A as a modifier gene in copper-metabolism disorders. The identification of two new functional variants in ATP7A and ATP7B contributes to the biological understanding of protein function, with relevance for future development of therapy., Summary: Labrador retrievers with hereditary copper toxicosis are a useful new model for copper-metabolism disorders.

Published
2016

5. Provincial Differences in the Diagnosis and Care of Amyotrophic Lateral Sclerosis

Author

Hodgkinson, Victoria L., primary, Lounsberry, Josh, additional, Mirian, Ario, additional, Genge, Angela, additional, Benstead, Timothy, additional, Briemberg, Hannah, additional, Grant, Ian, additional, Hader, Walter, additional, Johnston, Wendy S., additional, Kalra, Sanjay, additional, Linassi, Gary, additional, Massie, Rami, additional, Melanson, Michel, additional, O’Connell, Colleen, additional, Schellenberg, Kerri, additional, Shoesmith, Christen, additional, Taylor, Sean, additional, Worley, Scott, additional, Zinman, Lorne, additional, and Korngut, Lawrence, additional

Published
2018
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6. The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders

Author

Fieten, Hille, Gill, Yadvinder, Martin, Alan J, Concilli, Mafalda, Dirksen, Karen, van Steenbeek, Frank G, Spee, Bart, van den Ingh, Ted S G A M, Martens, Ellen C C P, Festa, Paola, Chesi, Giancarlo, van de Sluis, Bart, Houwen, Roderick H J H, Watson, Adrian L, Aulchenko, Yurii S, Hodgkinson, Victoria L, Zhu, Sha, Petris, Michael J, Polishchuk, Roman S, Leegwater, Peter A J, Rothuizen, Jan, Fieten, Hille, Gill, Yadvinder, Martin, Alan J, Concilli, Mafalda, Dirksen, Karen, van Steenbeek, Frank G, Spee, Bart, van den Ingh, Ted S G A M, Martens, Ellen C C P, Festa, Paola, Chesi, Giancarlo, van de Sluis, Bart, Houwen, Roderick H J H, Watson, Adrian L, Aulchenko, Yurii S, Hodgkinson, Victoria L, Zhu, Sha, Petris, Michael J, Polishchuk, Roman S, Leegwater, Peter A J, and Rothuizen, Jan

Abstract

The deleterious effects of a disrupted copper metabolism are illustrated by hereditary diseases caused by mutations in the genes coding for the copper transporters ATP7A and ATP7B. Menkes disease, involving ATP7A, is a fatal neurodegenerative disorder of copper deficiency. Mutations in ATP7B lead to Wilson disease, which is characterized by a predominantly hepatic copper accumulation. The low incidence and the phenotypic variability of human copper toxicosis hamper identification of causal genes or modifier genes involved in the disease pathogenesis. The Labrador retriever was recently characterized as a new canine model for copper toxicosis. Purebred dogs have reduced genetic variability, which facilitates identification of genes involved in complex heritable traits that might influence phenotype in both humans and dogs. We performed a genome-wide association study in 235 Labrador retrievers and identified two chromosome regions containing ATP7A and ATP7B that were associated with variation in hepatic copper levels. DNA sequence analysis identified missense mutations in each gene. The amino acid substitution ATP7B:p.Arg1453Gln was associated with copper accumulation, whereas the amino acid substitution ATP7A:p.Thr327Ile partly protected against copper accumulation. Confocal microscopy indicated that aberrant copper metabolism upon expression of the ATP7B variant occurred because of mis-localization of the protein in the endoplasmic reticulum. Dermal fibroblasts derived from ATP7A:p.Thr327Ile dogs showed copper accumulation and delayed excretion. We identified the Labrador retriever as the first natural, non-rodent model for ATP7B-associated copper toxicosis. Attenuation of copper accumulation by the ATP7A mutation sheds an interesting light on the interplay of copper transporters in body copper homeostasis and warrants a thorough investigation of ATP7A as a modifier gene in copper-metabolism disorders. The identification of two new functional variants in ATP7A a

Published
2016

7. The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders

Author

LS Interne geneeskunde, Spoedkliniek Gezelschapsdieren Midden-NL, Onderzoek, Universitair Veterinair Diagnostisch Lab, dCSCA RMSC-1, dCSCA AVR, Fieten, Hille, Gill, Yadvinder, Martin, Alan J, Concilli, Mafalda, Dirksen, Karen, van Steenbeek, Frank G, Spee, Bart, van den Ingh, Ted S G A M, Martens, Ellen C C P, Festa, Paola, Chesi, Giancarlo, van de Sluis, Bart, Houwen, Roderick H J H, Watson, Adrian L, Aulchenko, Yurii S, Hodgkinson, Victoria L, Zhu, Sha, Petris, Michael J, Polishchuk, Roman S, Leegwater, Peter A J, Rothuizen, Jan, LS Interne geneeskunde, Spoedkliniek Gezelschapsdieren Midden-NL, Onderzoek, Universitair Veterinair Diagnostisch Lab, dCSCA RMSC-1, dCSCA AVR, Fieten, Hille, Gill, Yadvinder, Martin, Alan J, Concilli, Mafalda, Dirksen, Karen, van Steenbeek, Frank G, Spee, Bart, van den Ingh, Ted S G A M, Martens, Ellen C C P, Festa, Paola, Chesi, Giancarlo, van de Sluis, Bart, Houwen, Roderick H J H, Watson, Adrian L, Aulchenko, Yurii S, Hodgkinson, Victoria L, Zhu, Sha, Petris, Michael J, Polishchuk, Roman S, Leegwater, Peter A J, and Rothuizen, Jan

Published
2016

8. The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders

Author

MDL patientenzorg, Child Health, Cluster C, Fieten, Hille, Gill, Yadvinder, Martin, Alan J., Concilli, Mafalda, Dirksen, Karen, van Steenbeek, Frank G., Spee, Bart, van den Ingh, Ted S. G. A. M., Martens, Ellen C. C. P., Festa, Paola, Chesi, Giancarlo, van de Sluis, Bart, Houwen, Roderick H. J. H., Watson, Adrian L., Aulchenko, Yurii S., Hodgkinson, Victoria L., Zhu, Sha, Petris, Michael J., Polishchuk, Roman S., Leegwater, Peter A. J., Rothuizen, Jan, MDL patientenzorg, Child Health, Cluster C, Fieten, Hille, Gill, Yadvinder, Martin, Alan J., Concilli, Mafalda, Dirksen, Karen, van Steenbeek, Frank G., Spee, Bart, van den Ingh, Ted S. G. A. M., Martens, Ellen C. C. P., Festa, Paola, Chesi, Giancarlo, van de Sluis, Bart, Houwen, Roderick H. J. H., Watson, Adrian L., Aulchenko, Yurii S., Hodgkinson, Victoria L., Zhu, Sha, Petris, Michael J., Polishchuk, Roman S., Leegwater, Peter A. J., and Rothuizen, Jan

Published
2016

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