Alex MacKenzie

Publications

• Transcriptomic RNAseq Drug Screen in Cerebrocortical Cultures; Towards Novel Neurogenetic Disease Therapies
  Human Molecular Genetics. Jun, 2018  |   Pubmed ID: 29901742
• Inhibitor of Apoptosis Proteins, NAIP, CIAP1 and CIAP2 Expression During Macrophage Differentiation and M1/M2 Polarization
  PloS One. 2018  |   Pubmed ID: 29518103
• Establishing Core Outcome Sets for Phenylketonuria (PKU) and Medium-chain Acyl-CoA Dehydrogenase (MCAD) Deficiency in Children: Study Protocol for Systematic Reviews and Delphi Surveys
  Trials. Dec, 2017  |   Pubmed ID: 29258568
• Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency
  Genetics. Dec, 2017  |   Pubmed ID: 29061647
• Neuronal Apoptosis Inhibitory Protein (NAIP) Localizes to the Cytokinetic Machinery During Cell Division
  Scientific Reports. 01, 2017  |   Pubmed ID: 28059125
• DNM1L-related Mitochondrial Fission Defect Presenting As Refractory Epilepsy
  European Journal of Human Genetics : EJHG. 07, 2016  |   Pubmed ID: 26604000
• The Search for Pompe Patients in Canada: Assessing Feasibility of a National Disease Registry to Facilitate Research
  Journal of Neuromuscular Diseases. 2015  |   Pubmed ID: 27858639
• Human Growth Hormone Increases SMN Expression and Survival in Severe Spinal Muscular Atrophy Mouse Model
  Journal of Neuromuscular Diseases. 2014  |   Pubmed ID: 27858661
• VPAC2 Receptor Agonist BAY 55-9837 Increases SMN Protein Levels and Moderates Disease Phenotype in Severe Spinal Muscular Atrophy Mouse Models
  Orphanet Journal of Rare Diseases. 2014  |   Pubmed ID: 24405637
• Specific Combination of Compound Heterozygous Mutations in 17β-hydroxysteroid Dehydrogenase Type 4 (HSD17B4) Defines a New Subtype of D-bifunctional Protein Deficiency
  Orphanet Journal of Rare Diseases. Nov, 2012  |   Pubmed ID: 23181892
• A Generalizable Pre-clinical Research Approach for Orphan Disease Therapy
  Orphanet Journal of Rare Diseases. Jun, 2012  |   Pubmed ID: 22704758
• Prolactin Increases SMN Expression and Survival in a Mouse Model of Severe Spinal Muscular Atrophy Via the STAT5 Pathway
  The Journal of Clinical Investigation. Aug, 2011  |   Pubmed ID: 21785216
• Estrogen Suppresses Uterine Epithelial Apoptosis by Inducing Birc1 Expression
  Molecular Endocrinology (Baltimore, Md.). Jan, 2008  |   Pubmed ID: 17901126
• Distinct Expression of Neuronal Apoptosis Inhibitory Protein (NAIP) During Murine Development
  Neuroreport. Mar, 2002  |   Pubmed ID: 11930148
• The Neuronal Apoptosis Inhibitory Protein is a Direct Inhibitor of Caspases 3 and 7
  The Journal of Neuroscience : the Official Journal of the Society for Neuroscience. Mar, 2002  |   Pubmed ID: 11896143
• CHRIMCY: A Proposed Institute for Research on Reproduction, Development, and Mother, Child and Youth Health
  Paediatrics & Child Health. Jan, 2000  |   Pubmed ID: 20107590
• The Hippocampal Neurons of Neuronal Apoptosis Inhibitory Protein 1 (NAIP1)-deleted Mice Display Increased Vulnerability to Kainic Acid-induced Injury
  Proceedings of the National Academy of Sciences of the United States of America. Feb, 2000  |   Pubmed ID: 10681452