Martina Metzler

University of British Columbia — Canada

Neuroscience · Life Sciences

28h-index4.0kcitations37works0.02yr avg
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Research Topics

Genetic Neurodegenerative Diseases(19), Mitochondrial Function and Pathology(14), Muscle Physiology and Disorders(8), Cellular transport and secretion(5), Hereditary Neurological Disorders(3)

Publications37 total

HACE1 reduces oxidative stress and mutant Huntingtin toxicity by promoting the NRF2 response
Proceedings of the National Academy of Sciences·2014· 106 citedOpen Access
Late Effects Surveillance System - Arbeitsgruppe Spätfolgen der GPOH - Aktueller Stand
Klinische Pädiatrie·2012
Mutations in NMDA receptors influence neurodevelopmental disorders causing epilepsy and intellectual disability
Clinical Genetics·2010· 7 citedOpen Access
Disturbances in endocannabinoid metabolism causes autosomal recessive neurodegeneration
Clinical Genetics·2010· 2 cited
Mutations in a novel cilia-centrosome protein cause a cystic kidney disease associated with retinal degeneration
Clinical Genetics·2010· 1 cited
Cleavage at the 586 Amino Acid Caspase-6 Site in Mutant huntingtin Influences Caspase-6 Activation<i>In Vivo</i>
Journal of Neuroscience·2010· 106 citedOpen Access
Phosphorylation of Huntingtin at Ser<sup>421</sup>in YAC128 Neurons Is Associated with Protection of YAC128 Neurons from NMDA-Mediated Excitotoxicity and Is Modulated by PP1 and PP2A
Journal of Neuroscience·2010· 87 citedOpen Access
An ancient disorder under iron control
Clinical Genetics·2009· 1 cited
MicroRNAs become large in hearing loss
Clinical Genetics·2009· 1 cited
Diverse effects in Friedreich's ataxia place PGC‐1α center‐stage
Clinical Genetics·2009· 1 cited
Differential Susceptibility to Excitotoxic Stress in YAC128 Mouse Models of Huntington Disease between Initiation and Progression of Disease
Journal of Neuroscience·2009· 121 citedOpen Access
Huntingtin-Interacting Protein 1 Influences Worm and Mouse Presynaptic Function and Protects<i>Caenorhabditis elegans</i>Neurons against Mutant Polyglutamine Toxicity
Journal of Neuroscience·2007· 64 citedOpen Access
NMDA Receptor Function and NMDA Receptor-Dependent Phosphorylation of Huntingtin Is Altered by the Endocytic Protein HIP1
Journal of Neuroscience·2007· 46 citedOpen Access
Phenotypic abnormalities in the YAC128 mouse model of Huntington disease are penetrant on multiple genetic backgrounds and modulated by strain
Neurobiology of Disease·2006· 101 citedOpen Access
Structural abnormalities in spermatids together with reduced sperm counts and motility underlie the reproductive defect in HIP1<sup>−/−</sup> mice
Molecular Reproduction and Development·2006· 27 cited
Hippi is essential for node cilia assembly and Sonic hedgehog signaling
Developmental Biology·2006· 97 citedOpen Access
<i>Als2</i> -deficient mice exhibit disturbances in endosome trafficking associated with motor behavioral abnormalities
Proceedings of the National Academy of Sciences·2006· 137 citedOpen Access
Huntingtin phosphorylation on serine 421 is significantly reduced in the striatum and by polyglutamine expansion in vivo
Human Molecular Genetics·2005· 145 citedOpen Access
Huntingtin-Interacting Protein HIP14 Is a Palmitoyl Transferase Involved in Palmitoylation and Trafficking of Multiple Neuronal Proteins
Neuron·2004· 311 citedOpen Access
Huntingtin Interacting Protein 1 (HIP1) Regulates Clathrin Assembly through Direct Binding to the Regulatory Region of the Clathrin Light Chain
Journal of Biological Chemistry·2004· 121 citedOpen Access
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Frequent Co-authors

Michael R. Hayden(24), Rona K. Graham(7), Roshni R. Singaraja(6), Krista McCutcheon(5), Blair R. Leavitt(5), Lynn A. Raymond(5), Cheryl L. Wellington(4), Donald W. Nicholson(4), Peter S. McPherson(4), Nagat Bissada(4), Michael A. Kalchman(3), Abigail S. Hackam(3), Valérie Legendre‐Guillemin(3), Lu Gan(3), Vikramjit Chopra(3), Nansheng Chen(3), Lu Gan(3), Hiroshi Koide(2), K. Nichol(2), Y. Paul Goldberg(2)