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SELECTED PUBLICATIONS

Some of our highlighted publications.  For a complete list, please refer to PubMed or Google Scholar.

* Denotes a member of the Harper Lab at the time of publication

16P11.2 HAPLOINSUFFICIENCY REDUCES MITOCHONDRIAL BIOGENESIS IN BRAIN ENDOTHELIAL CELLS AND ALTERS BRAIN METABOLISM IN ADULT MICE

2023

Authors: Alexandria Béland-Millar, Alexia Kirby, Yen Truong, Julie Ouellette, Sozerko Yandiev, Khalil Bouyakdan, Chantal Pileggi*, Shama Naz, Melissa Yin, Micaël Carrier, Pavel Kotchetkov, Marie-Kim St-Pierre, Marie-Ève Tremblay, Julien Courchet, Mary-Ellen Harper*, Thierry Alquier, Claude Messier, Adam J Shuhendler, Baptiste Lacoste

Journal: Cell Reports

Pubmed: https://pubmed.ncbi.nlm.nih.gov/37149866/ 

PARKIN COREGULATES GLUTATHIONE METABOLISM IN ADULT MAMMALIAN BRAIN

2023

Authors: Daniel N El Kodsi, Jacqueline M Tokarew, Rajib Sengupta, Nathalie A Lengacher, Ajanta Chatterji, Angela P Nguyen, Heather Boston, Qiubo Jiang, Carina Palmberg, Chantal Pileggi*, Chet E Holterman, Bojan Shutinoski, Juan Li, Travis K Fehr, Matthew J LaVoie, Rajiv R Ratan, Gary S Shaw, Masashi Takanashi, Nobutaka Hattori, Christopher R Kennedy, Mary-Ellen Harper*, Arne Holmgren, Julianna J Tomlinson, Michael G Schlossmacher

Journal: Acta Neuropathologica Communications

Pubmed: https://pubmed.ncbi.nlm.nih.gov/36691076/

NOVEL HOMOZYGOUS VARIANT IN COQ7 IN SIBLINGS WITH HEREDITARY MOTOR NEUROPATHY

2023

Authors: Ian C Smith, Chantal A Pileggi*, Ying Wang, Kristin Kernohan, Taila Hartley, Hugh J McMillan, Marcos Loreto Sampaio, Gerd Melkus, John Woulfe, Gaganvir Parmar*, Pierre R Bourque, Ari Breiner, Jocelyn Zwicker, C Elizabeth Pringle, Olga Jarinova, Hanns Lochmüller, David A Dyment, Bernard Brais, Kym M Boycott, Siegfried Hekimi, Mary-Ellen Harper*, Jodi Warman-Chardon, Care4Rare Canada Consortium

Journal: Neurology Genetics

Pubmed: https://pubmed.ncbi.nlm.nih.gov/37077559/ 

EXERCISE TRAINING ENHANCES MUSCLE MITOCHONDRIAL METABOLISM IN DIET-RESISTANT OBESITY

2022

Authors: Chantal A Pileggi*, Denis P Blondin*, Breana G Hooks*, Gaganvir Parmar*, Irina Alecu, David A Patten, Alexanne Cuillerier, Conor O'Dwyer, A Brianne Thrush*, Morgan D Fullerton, Steffany AL Bennett, Éric Doucet, François Haman, Miroslava Cuperlovic-Culf, Ruth McPherson, Robert RM Dent, Mary-Ellen Harper*

Journal: eBioMedicine

Pubmed: https://pubmed.ncbi.nlm.nih.gov/35965199/

ASSOCIATION OF MUSCLE FIBER TYPE WITH MEASURES OF OBESITY: A SYSTEMATIC REVIEW

2022

Authors: Alameen Damer, Sherif El Meniawy, Ruth McPherson, George Wells, Mary‐Ellen Harper*, Robert Dent

Journal: Obesity Reviews


Pubmed: https://pubmed.ncbi.nlm.nih.gov/35293095/

TARGETING SKELETAL MUSCLE MITOCHONDRIAL HEALTH IN OBESITY

2022

Authors: Chantal A Pileggi*, Breana G Hooks*, Ruth McPherson, Robert RM Dent, Mary-Ellen Harper*


Journal: Clinical Science


Pubmed: https://pubmed.ncbi.nlm.nih.gov/35892309/

PROHIBITIN 1 INTERACTS WITH P53 IN THE REGULATION OF MITOCHONDRIAL DYNAMICS AND CHEMORESISTANCE IN GYNECOLOGIC CANCERS

2022

Authors: Bao Kong, Chae Young Han, Se Ik Kim, David A Patten*, Youngjin Han, Euridice Carmona, Dar-Bin Shieh, Annie C Cheung, Anne-Marie Mes-Masson, Mary-Ellen Harper*, Yong Sang Song, Benjamin K Tsang


Journal: Journal of Ovarian Research


Pubmed: https://pubmed.ncbi.nlm.nih.gov/35668443/

FOXO3A TEMPERS EXCESSIVE GLUTAMINOLYSIS IN ACTIVATED T CELLS TO PREVENT FATAL GUT INFLAMMATION IN THE MURINE IL-10−/− MODEL OF COLITIS

2022

Authors: Stephanie Hajjar, Nayanan Nathan, Julie Joseph, Walid Mottawea, Ardeshir Ariana, Sergey Pyatibrat, Mary-Ellen Harper*, Tommy Alain, Alexandre Blais, Ryan C Russell, Subash Sad


Journal: Cell Death & Differentiation


Pubmed: https://pubmed.ncbi.nlm.nih.gov/34588632/

NAKED MOLE-RAT BROWN FAT THERMOGENESIS IS DIMINISHED DURING HYPOXIA THROUGH A RAPID DECREASE IN UCP1

2021

Authors: Hang Cheng, Rajaa Sebaa*, Nikita Malholtra, Baptiste Lacoste, Ziyad El Hankouri*, Alexia Kirby, Nigel C Bennett, Barry van Jaarsveld, Daniel W Hart, Glenn J Tattersall, Mary-Ellen Harper*, Matthew E Pamenter


Journal: Nature communications


Pubmed: https://pubmed.ncbi.nlm.nih.gov/34815412/

GRX2 REGULATES SKELETAL MUSCLE MITOCHONDRIAL STRUCTURE AND AUTOPHAGY

2021

Authors: Ava Liaghati*, Chantal A Pileggi*, Gaganvir Parmar*, David A Patten*, Nina Hadzimustafic*, Alexanne Cuillerier, Keir J Menzies, Yan Burelle, Mary-Ellen Harper*

Journal: Frontiers in Physiology

Pubmed: https://pubmed.ncbi.nlm.nih.gov/33762963/ 

A RECURRENT DE NOVO ATP5F1A SUBSTITUTION ASSOCIATED WITH NEONATAL COMPLEX V DEFICIENCY

2021

Authors: Matthew A Lines, Alexanne Cuillerier, Pranesh Chakraborty, Turaya Naas, M Laura Duque Lasio, Jean Michaud, Chantal Pileggi*, Mary-Ellen Harper*, Yan Burelle, Tomi L Toler, Neal Sondheimer, Heather P Crawford, Francisca Millan, Michael T Geraghty

Journal: European Journal of Human Genetics

Pubmed: https://pubmed.ncbi.nlm.nih.gov/34483339/

DIETARY COCOA FLAVANOLS ENHANCE MITOCHONDRIAL FUNCTION IN SKELETAL MUSCLE AND MODIFY WHOLE-BODY METABOLISM IN HEALTHY MICE

2021

Authors: Frédéric Nicolas Daussin, Alexane Cuillerier, Julianne Touron, Samir Ben Said, Bruno Melo, Ali Al Rewashdy, Goutham Vasam, Keir J Menzies, Mary-Ellen Harper*, Elsa Heyman, Yan Burelle

Journal: Nutrients

CARDIOMYOCYTE-SPECIFIC SRSF3 DELETION REVEALS A MITOCHONDRIAL REGULATORY ROLE

2021

Authors: Audrey‐Ann Dumont, Lauralyne Dumont, Delong Zhou, Hugo Giguère, Chantal Pileggi*, Mary‐Ellen Harper*, Denis P Blondin, Michelle S Scott, Mannix Auger‐Messier

Journal:  FASEB- Federation of American Societies for Experimental Biology

Pubmed: https://pubmed.ncbi.nlm.nih.gov/33819356/

EXERCISE TRAINING AND DIET-INDUCED WEIGHT LOSS INCREASE MARKERS OF HEPATIC BILE ACID (BA) SYNTHESIS AND REDUCE SERUM TOTAL BA CONCENTRATIONS IN OBESE WOMEN

2021

Authors: Kelly E Mercer, Adrianna Maurer, Lindsay M Pack, Kikumi Ono-Moore, Beverly J Spray, Caitlin Campbell, Carol J Chandler, Dustin Burnett, Elaine Souza, Gretchen Casazza, Nancy Keim, John Newman, Gary Hunter, Jose Fernadez, W Timothy Garvey, Mary-Ellen Harper*, Charles Hoppel, Sean H Adams, John Thyfault

Journal: American Journal of Physiology-
Endocrinology and Metabolism

Pubmed: https://pubmed.ncbi.nlm.nih.gov/33645254/

INTERINDIVIDUAL VARIABILITY IN WEIGHT LOSS IN THE TREATMENT OF OBESITY

2021

Authors: Mary-Ellen Harper, Ruth McPherson, Robert Dent

Journal: Am J Clin Nutr.

Pubmed: https://pubmed.ncbi.nlm.nih.gov/34337661/

SMN DEPLETED MICE OFFER A ROBUST AND RAPID ONSET MODEL OF NONALCOHOLIC FATTY LIVER DISEASE

2021

Authors: Marc-Olivier Deguise, Chantal Pileggi*, Yves De Repentigny, Ariane Beauvais, Alexandra Tierney, Lucia Chehade, Jean Michaud, Maica Llavero-Hurtado, Douglas Lamont, Abdelmadjid Atrih, Thomas M Wishart, Thomas H Gillingwater, Bernard L Schneider, Mary-Ellen Harper*, Simon H Parson, Rashmi Kothary

Journal: Cellular and Molecular Gastroenterology and Hepatology

Pubmed: https://pubmed.ncbi.nlm.nih.gov/33545428/ 

ROLE OF GLUTATHIONE IN CANCER: FROM MECHANISMS TO THERAPIES

2020

Authors: Luke Kennedy*, Jagdeep Sanhu, Mary-Ellen Harper* and Miroslava Cuperlovic-Culf

Journal: Biomolecules

Pubmed: https://pubmed.ncbi.nlm.nih.gov/33050144/ 

EFFECTS OF COBALT AND CHROMIUM IONS ON GLYCOLYTIC FLUX AND THE STABILIZATION OF HYPOXIA-INDUCIBLE FACTOR-1Α IN MACROPHAGES IN VITRO

2020

Authors: Zeina Salloum, Eric A Lehoux, Mary‐Ellen Harper, Isabelle Catelas

Journal: Journal of Orthopaedic Research

Pubmed: https://pubmed.ncbi.nlm.nih.gov/32462687/

THE LIFECYCLE OF SKELETAL MUSCLE MITOCHONDRIA IN OBESITY

2020

Authors: Chantal Pileggi*, Gaganvir Parmar*, and Mary-Ellen Harper*

Journal: Obesity Reviews

Pubmed: https://pubmed.ncbi.nlm.nih.gov/33442950/ 

INNATE IMMUNE NOD1/RIP2 SIGNALING IS ESSENTIAL FOR CARDIAC HYPERTROPHY BUT REQUIRES MITOCHONDRIAL ANTIVIRAL SIGNALING PROTEIN FOR SIGNAL TRANSDUCTIONS AND ENERGY BALANCE

2020

Authors: Han-Bin Lin, Kotaro Naito, Yena Oh, Gedaliah Farber, Georges Kanaan, Alan Valaperti, Fayez Dawood, Liyong Zhang, Guo Hua Li, David Smyth, Mark Moon, Youan Liu, Wenbin Liang, Benjamin Rotstein, Dana J Philpott, Kyoung-Han Kim, Mary-Ellen Harper*, Peter P Liu

Journal: Circulation

Pubmed: https://pubmed.ncbi.nlm.nih.gov/33070627/

FACTORS AFFECTING WEIGHT LOSS VARIABILITY IN OBESITY

2020

Authors: Robert Dent, Ruth McPherson and Mary-Ellen Harper*

Journal: Metabolism Clinical and Experimental

Pubmed: https://pubmed.ncbi.nlm.nih.gov/33035570/

ALTERED MITOCHONDRIAL FUSION DRIVES DEFENSIVE GLUTATHIONE SYNTHESIS IN CELLS ABLE TO SWITCH TO GLYCOLYTIC ATP PRODUCTION

2020

Authors: David A. Patten*, Shawn McGuirk, Ujval Anilkumar, Ghadi Antoun*, Karan Gandhi*, Gaganvir Parma*, Mohamed Ariff Iqbal, Jacob Wong, Richard B.Richardson, Julie St-Pierre, Ruth S.Slack, Mary-Ellen Harper*

Journal: Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

Link: https://www.sciencedirect.com/science/article/pii/S0167488920302123

PHENOMIC SCREEN IDENTIFIES A ROLE FOR THE YEAST LYSINE ACETYLTRANSFERASE NUA4 IN THE CONTROL OF BCY1 SUBCELLULAR LOCALIZATION, GLYCOGEN BIOSYNTHESIS, AND MITOCHONDRIAL MORPHOLOGY

2020

Authors: Elizabeth A Walden, Roger Y Fong, Trang T Pham, Hana Knill, Sarah Jane Laframboise, Sylvain Huard, Mary-Ellen Harper*, Kristin Baetz

Journal: PLoS genetics

Pubmed: https://pubmed.ncbi.nlm.nih.gov/33253187/

METABOLIC TERMINOLOGY: WHAT’S IN A NAME?

2020

Authors: Mary-Ellen Harper* and Mary Elizabeth Patti.

Journal: Nature Metabolism. 2: 476-477.

Pubmed: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3475284/

SGCG RS679482 ASSOCIATES WITH WEIGHT LOSS SUCCESS IN RESPONSE TO AN INTENSIVELY SUPERVISED OUTPATIENT PROGRAM

2020

Authors: Majid Nikpay, Paulina Lau, Sebastien Soubeyrand, Katey  Whytlock, Kaitlyn Beecher, Chantal Pileggi*, Sujoy Ghosh, Mary-Ellen Harper*, Robert Dent, and Ruth McPherson

Journal: Diabetes

Pubmed: https://pubmed.ncbi.nlm.nih.gov/32527767/

GLUTAREDOXIN-2 AND SIRTUIN-3 DEFICIENCIES IMPAIR CARDIAC MITOCHONDRIAL ENERGETICS BUT THEIR EFFECTS ARE NOT ADDITIVE.

2020

Authors: Neoma T Boardman*, Baher Migally*, Chantal Pileggi*, Gaganvir S Parmar*, Jian Ying Xuan*, Keir Menzies and Mary-Ellen Harper* 

Journal: BBA: Molecular Basis of Disease.

Pudmed: https://pubmed.ncbi.nlm.nih.gov/33002579/ 

HARNESSING THE PROTECTIVE ROLE OF OPA1 IN DIABETIC CARDIOMYOPATHY.

2020

Authors: David A. Patten*, Mary-Ellen Harper* and Neoma Boardman*

Journal: Acta Physiologica (Oxford). 229(1):e13466

Pubmed:https://pubmed.ncbi.nlm.nih.gov/32175678/

MATERNAL DIET INDUCED OBESITY ALTERS MUSCLE MITOCHONDRIAL FUNCTION IN OFFSPRING WITHOUT CHANGING INSULIN SENSITIVITY.

2019

Authors: Fiona McMurray*, Megan MacFarlane*, Kijoo Kim*, David A. Patten*, Lan Wei-LaPierre, Morgan D. Fullerton, and Mary-Ellen Harper

Journal: FASEB J. 33(12):13515-13526

Pubmed: https://pubmed.ncbi.nlm.nih.gov/31581846/

MITOCHONDRIAL ADAPTATION IN HUMAN MESENCHYMAL STEM CELLS FOLLOWING IONIZING RADIATION.

2019

Authors: David A. Patten*, Mathieu Ouelet, David S. Allan, Marc Germain, Stephen Baird, Mary-Ellen Harper* and Richard B. Richardson

Journal: FASEB J. 33 (8), 9263-9278  

Pubmed: https://pubmed.ncbi.nlm.nih.gov/31112400/

SIRT3 CONTROLS BROWN FAT THERMOGENESIS BY DEACETYLATION REGULATION OF PATHWAYS UPSTREAM OF UCP1.

2019

Authors: Rajaa Sebaa*, Jeff Johnson, Chantal Pileggi*, Michaela Norgren*, Jian Xuan*, Yuka Sai, Qiang Tong, Irena Krystkowiak, Emma Bondy-Chorney, Norman Davey, Nevan Krogan, Michael Downey+ and Mary-Ellen Harper+

Journal: Molecular Metabolism. 25:35-49

Pubmed: https://pubmed.ncbi.nlm.nih.gov/31060926/

GLYOXALASE 1 PREVENTS CHRONIC HYPERGLYCEMIA INDUCED HEART-EXPLANT DERIVED CELL DYSFUNCTION

2019

Authors: Melanie Villanueva, Connor Michie, Georges N Kanaan*, Ghazaleh Rafatian, Pushpinder Kanda, Bin Ye, Wenbin Liang, Mary-Ellen Harper* and Darryl R Davis

Journal: Theranostics

Pubmed: https://pubmed.ncbi.nlm.nih.gov/31534514/

EXERCISE PLASMA METABOLOMICS AND XENOMETABOLOMICS IN OBESE, SEDENTARY, INSULIN-RESISTANT WOMEN: IMPACT OF A FITNESS AND WEIGHT LOSS INTERVENTION.

2019

Authors: Dmitry Grapov, Oliver Fiehn, Caitlin Campbell, Carol Chandler, Dustin Burnett, Elaine Souza, Gretchen Casazza, Nancy Keim, John Newman, Gary Hunter, Jose Fernandez, W. Timothy Garvey, Charles Hoppel, Mary-Ellen Harper*, and Sean H. Adams

Journal: American Journal of Physiology- Endocrinology and Metabolism

Pubmed: https://pubmed.ncbi.nlm.nih.gov/31526287/ 

SKELETAL MUSCLE MITOFLASHES, PH, AND THE ROLE OF UNCOUPLING PROTEIN-3.

2019

Authors: Skye McBride*, Lan Wei-LaPierre, Fiona McMurray*, Megan MacFarlane*, Xing Qiu, David A. Patten*, Robert T. Dirksen RT, Mary-Ellen Harper*

Journal: Arch Biochem Biophys. 663:239-248.

Pubmed: https://pubmed.ncbi.nlm.nih.gov/30659802/

GENOME-WIDE IDENTIFICATION OF CIRCULATING-MIRNA EXPRESSION QUANTITATIVE TRAIT LOCI REVEALS THE ROLE OF SEVERAL MIRNAS IN THE REGULATION OF CARDIOMETABOLIC PHENOTYPES

2019

Authors: Majid Nikpay, Kaitlyn Beehler, Armand Valsesia, Jorg Hager, Mary-Ellen Harper*, Robert Dent, and Ruth McPherson

Journal: Cardiovascular Research

Pubmed: https://pubmed.ncbi.nlm.nih.gov/30715214/

ATRIAL FIBRILLATION IS ASSOCIATED WITH IMPAIRED ATRIAL MITOCHONDRIAL ENERGETICS AND SUPERCOMPLEX FORMATION IN TYPE 2 DIABETES.

2019

Authors: Georges Kanaan*, David Patten*, Calum Redpath and Mary-Ellen Harper*.

Journal: Canadian Journal of Diabetes. 43(1):67-75.

Pubmed: https://pubmed.ncbi.nlm.nih.gov/30146472/

INFLUENCE OF ACSL5 GENOTYPE ON FATTY ACID OXIDATION AND MITOCHONDRIAL BIOENERGETICS -AN IN VITRO, EX VIVO AND IN VIVO ANALYSIS.

2018

Authors: Abi Rajkumar*, Awa Liaghati*, Jessica Chan, Gilles Lamothe, Robert Dent, Éric Doucet, Remi Rabasa-Lhoret, Denis Prud’homme, Mary-Ellen Harper** and Frédérique Tesson**

Journal: Metabolism Clinical and Experimental. 83:271-279.

Pubmed: https://pubmed.ncbi.nlm.nih.gov/29605434/

EFFECTS OF COBALT AND CHROMIUM IONS ON OXIDATIVE STRESS AND CELLULAR ENERGETICS IN MACROPHAGES IN VITRO.

2018

Authors: Zeina Salloum, Eric Lehoux, Mary-Ellen Harper* and Isabelle Catalas

Journal: Journal of Orthopaedic Research

Pubmed: https://pubmed.ncbi.nlm.nih.gov/30144138/

DIET-RESISTANT OBESITY IS CHARACTERIZED BY A DISTINCT PLASMA PROTEOMIC SIGNATURE AND IMPAIRED MUSCLE FIBER METABOLISM

2018

Authors: A. Brianne Thrush*, Ghadi Antoun*, Majid Nikpay, Jean-François Mauger, David Patten*, Brittany L. Beauchamp*, Paulina Lau, Éric Doucet, Pascal Imbeault, Robert Boushel, Jorg Hager, Armand Valsesia, Ruth Slack, Osama Y. Al-Dirbashi, Robert Dent**, Ruth McPherson** and Mary-Ellen Harper**.

Journal: Int J Obesity. 42(3):353-362

Pubmed: https://pubmed.ncbi.nlm.nih.gov/29151592/

TUMOR METABOLISM REGULATING CHEMOSENSITIVITY IN OVARIAN CANCER. GENES AND CANCER.

2018

Authors: Chae Young Han, David A Patten*, Richard Richardson, Mary-Ellen Harper*, and Benjamin K. Tsang.

Journal: Genes and Cancer.

Pubmed: https://pubmed.ncbi.nlm.nih.gov/30603053/

IL-15 IMPROVES SKELETAL MUSCLE OXIDATIVE METABOLISM AND GLUCOSE UPTAKE IN ASSOCIATION WITH INCREASED RESPIRATORY CHAIN SUPERCOMPLEX FORMATION AND AMPK PATHWAY ACTIVATION.

2019

Authors: Lucien Nadeau*, David Patten*, Audrey Caron, Léa Garneau, Marc Foretz, Pascal Haddad, Barbara G Andersen, Quinn LeBris, Mary-Ellen Harper*, and Céline Aguer.

Journal: BBA General Subjects. 1863(2):395-407

Pubmed: https://pubmed.ncbi.nlm.nih.gov/30448294/


GLUTAREDOXIN-2 CONTROLS CARDIAC MITOCHONDRIAL DYNAMICS AND ENERGETICS IN MICE, AND PROTECTS AGAINST HUMAN CARDIAC PATHOLOGIES.

2018

Authors: Georges N. Kanaan*, Bianca Ichim*, Lara Gharibeh, Wael Maharsy, David Patten*, Jian Ying Xuan*, Arkadiy Reunov, Philip Marshall, John Veinot, Keir Menzies, Mona Nemer and Mary-Ellen Harper*

Journal: Redox Biol. 14:509-521.

Pubmed: https://pubmed.ncbi.nlm.nih.gov/29101900/

IS TYPE 2 DIABETES ASSOCIATED WITH IMPAIRED CAPACITY FOR WEIGHT LOSS?

2018

Authors: Ghadi Antoun*, Majid Nikpay, Ruth McPherson, Mary-Ellen Harper*, and Robert Dent.

Journal: Can J Diabetes. 42(3):313-16.

Pubmed: https://pubmed.ncbi.nlm.nih.gov/28800932/

CELLULAR REDOX DYSFUNCTION IN THE DEVELOPMENT OF CARDIOVASCULAR DISEASES.

2017

Authors: Georges N. Kanaan* and Mary-Ellen Harper*

Journal: BBA: General Subjects. 1861: 2822-9.

Pubmed: https://pubmed.ncbi.nlm.nih.gov/28778485/

A NOVEL AMINO ACID AND METABOLOMICS SIGNATURE IN MICE OVEREXPRESSING MUSCLE UNCOUPLING PROTEIN 3.

2017

Authors: Céline Aguer*, Brian Piccolo, Oliver Fiehn, Sean Adams and Mary-Ellen Harper*

Journal: FASEB J. 31(2):814-27.

Pubmed: https://pubmed.ncbi.nlm.nih.gov/27871066/

EFFECTS OF 12 MONTHS OF CALORIC RESTRICTION ON MUSCLE MITOCHONDRIAL FUNCTION IN HEALTHY INDIVIDUALS

2017

Authors: Sparks LM, Redman LM, Conley KE, Harper ME*, Yi F, Hodges A, Eroshkin A, Costford SR, Gabriel ME, Shook C, Cornnell HH, Ravussin E, Smith SR.

Journal: J Clin Endocrinol Metab

Pubmed: https://pubmed.ncbi.nlm.nih.gov/27778643/

DETAILED BIOCHEMICAL AND BIOENERGETIC CHARACTERIZATION OF FBXL4-RELATED ENCEPHALOMYOPATHIC MITOCHONDRIAL DNA DEPLETION

2016

Authors: Ghadi Antoun*, Skye McBride*, Jason R. Vanstone, Turaya Naas, Jean Michaud, Hugh McMillan, Stephanie Redpath, Dennis Bulman, Jason Brophy, FORGE Canada Consortium, Kym M. Boycott, David Dyment, Martin Holcik, Alex Mackenzie, Mary-Ellen Harper*+, and Matthew A. Lines+

Journal: Journal of Inherited Metabolic Diseases

Pubmed: https://pubmed.ncbi.nlm.nih.gov/26404457/

IDENTIFICATION OF A PATHOGENIC FTO MUTATION BY NEXT-GENERATION SEQUENCING IN A NEWBORN WITH GROWTH RETARDATION AND DEVELOPMENTAL DELAY

2016

Authors: Hussein Daoud, Fiona McMurray*, Andrea Yu, Stephanie Luco, Jason Vanstone, Olga Jarinova, Nancy Carson, Kym M Boycott, Christopher Schofield, Mary-Ellen Harper*, David A Dyment, Christine M Armour.

Journal: Journal of Medical Genetics

Pubmed: https://pubmed.ncbi.nlm.nih.gov/26378117/

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