Marisa Friederich, PhD

Associate Professor, Pediatrics-Clinical Genetics and Metabolism

FacultyPhoto

Website

Graduate School
  • PhD, University of Colorado Health Sciences Center (1995)
Undergraduate School
  • BS, University of Maryland–College Park (1987)
Department
Pediatrics-Clinical Genetics and Metabolism

Professional Titles

  • Assistant Professor

Recognitions

  • Travel Award, ICIEM meeting from the Society of Inherited Metabolic Disease (2013)
    Awarded travel grant for best presentation to the ICIEM meeting from the Society of Inherited Metabolic Disease, Barcelona, Spain 2013

Publications

  • Brain. 2014 Feb;137(Pt 2):366-79. doi: 10.1093/brain/awt328. Epub 2013 Dec 11.
  • Mitochondrion. 2013 Nov;13(6):656-61. doi: 10.1016/j.mito.2013.09.004. Epub 2013 Sep 22
  • Chatfield KC, Coughlin CR 2nd, Friederich MW, Gallagher RC, Hesselberth JR, Lovell MA, Ofman R, Swanson MA, Thomas JA, Wanders RJ, Wartchow EP, Van Hove JL. Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing. Mitochondrion. 2015 Jan 6;21C:1-10. [Epub ahead of print] PubMed PMID: 25575635
  • Ferdinandusse S, Friederich MW, Burlina A, Ruiter JP, Coughlin CR 2nd, Dishop MK, Gallagher RC, Bedoyan JK, Vaz FM, Waterham HR, Gowan K, Chatfield K, Bloom K, Bennett MJ, Elpeleg O, Van Hove JL, Wanders RJ. Clinical and biochemical characterization of four patients with mutations in ECHS1. Orphanet J Rare Dis. 2015 Jun 18;10:79. PubMed PMID: 26081110
  • Chatfield KC, Coughlin CR 2nd, Friederich MW, Gallagher RC, Hesselberth JR, Lovell MA, Ofman R, Swanson MA, Thomas JA, Wanders RJ, Wartchow EP, Van Hove JL. Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing. Mitochondrion. 2015 Mar;21:1-10. PubMed PMID: 25575635
  • Coughlin CR 2nd, Scharer GH, Friederich MW, Yu HC, Geiger EA, Creadon-Swindell G, Collins AE, Vanlander AV, Coster RV, Powell CA, Swanson MA, Minczuk M, Van Hove JL, Shaikh TH. Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder. J Med Genet. 2015 20 Aug;52(8):532-40. Pub Med: PMID:25787132
  • Mutations in NDUFB10 result in isolated complex I deficiency due to incomplete assembly of complex I holoenzyme. Friederich M W, Coughlin C R II, Jiang H, O'rourke C, Lovell M A, Gowan K, Van Hove J LK. Poster presentation at the annual scientific meeting of the United Mitochondrial Disease Foundation, Washington, D.C., June 17-20, 2015
  • Cobalamin X (HCFC1 deficiency) mimicking nonketotic hyperglycinemia (NKH) with increased CSF glycine and methylmalonic acid. Scalais E, Weitzel C, De Meirleir L, Maertens G, Shaikh T H, Coughlin C II, Yu H-C, Swanson M, Friederich M, Scharer G, Helbling D, Wendt-Andrea J, Van Hove J. Poster presentation at the annual meeting of the Society for the Study of Inborn Errors of Metabolism, Lyon, France, September 2015
  • Blue and clear native electrophoresis in skin fibroblasts as a tool for detection of mitochondrial disease. Sosova I, Sinasac D, Snyder F, Hume S, Friederich M, Van Hove J, White C, Resch L, Khan A. Poster presentation at the annual meeting of the Society for the Study of Inborn Errors of Metabolism, Lyon, France, September 2015
  • Clinical and biochemical characterization of four patients with mutations in ECHS1. Ferdinandusse S, Friederich M W, Burline A, Ruiter J P N, Coughlin C R II, Dishop M K, Gallagher R C, Bedoyan J K , Vaz F M, Waterham H R, elpeleg O, Gowan K, Van Hove J L K, Wanders R J A. Poster presentation at the 47th EMG conference, Venice, June 11-13, 2015
  • Scalais E, Osterheld E, Weitzel C, De Meirleir L, Mataigne F, Martens G, Shaikh TH, Coughlin CR 2nd, Yu HC, Swanson M, Friederich MW, Scharer G, Helbling D, Wendt-Andrae J, Van Hove JLK. X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid. Pediatr Neurol. 2017 Jun;71:65-69. PubMed PMID: 28363510
  • Simon MT, Ng BG, Friederich MW, Wang RY, Boyer M, Kircher M, Collard R, Buckingham KJ, Chang R, Shendure J, Nickerson DA, Bamshad MJ, Van Hove JLK, Freeze HH, Abdenur JE. Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency. Mitochondrion. 2017 May;34:84-90. PubMed PMID: 28216230
  • Friederich MW, Erdogan AJ, Coughlin CR 2nd, Elos MT, Jiang H, O'Rourke CP, Lovell MA, Wartchow E, Gowan K, Chatfield KC, Chick WS, Spector EB, Van Hove JLK, Riemer J. Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly. Hum Mol Genet. 2017 Feb 15;26(4):702-716. PubMed PMID: 28040730
  • Elise Vantroys, Austin Larson, Marisa Friederich, Kaz Knight, Michael A. Swanson, Christopher A. Powell, Joél Smet, Sarah Vergult, Boel De Paepe, Sara Seneca, Herbert Roeyers, Björn Menten, Michal Minczuk, Arnaud Vanlander, Johan Van Hove, Rudy Van Coster , New insights into the phenotype of FARS2 deficiency Molecular Genetics and Metabolism 2017 (in press)
  • Marisa W Friederich, Sharita Timal, Christopher Powell, Cristina Dallabona, Alina Kurolap, Sara Palacios-Zambrano, Drago Bratkovic, Terry Derks, Miguel A. Fernández-Moreno, Hagit N Baris, Claudia Donnini, Michal Minczuk, Richard J. Rodenburg, Johan L.K. Van Hove, Mutations in the genes QRSL1, GATB, and GATC encoding the subunits of glutamyl-tRNAGln amidotransferase cause a mitochondrial disorder with lethal infantile cardiomyopathy 2018 SIMD, San Diego, CA
  • Friederich MW, Erdogan AJ, Coughlin CR 2nd, Elos MT, Jiang H, O'Rourke C, Lovell MA, Wartchow E, Gowan K, Chatfield KC, Chick WS, Spector E, Van Hove JL, Riemer J. Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly. Hum Mol Genet. 2016 Dec 30. [Epub ahead of print] PubMed PMID: 28040730
  • Kaz Knight, Marisa W. Friederich, Rudy Van Coster, Joel Smet, Elise Vantroys, Michio Hirano, Amy Goldstein, Johan L.K. Van Hove New mitochondrial diagnostic testing in fibroblasts, a minimally invasive tissue, identifies sensitive functional testing methods for complex I deficient primary mitochondrial disorders. 2018, SIMD, San Diego, CA
  • Michael A. Swanson, Leilani Rodriguez, Hua Jiang, Kaz Knight, Marisa Friederich, Nicholas Greene, Linda Johnson, Kenneth MacLean, and Johan Van Hove Characterization of a new nonketotic hyperglycinemia mouse model with an unstable missense mutation in GLDC. 2018, SIMD, San Diedo, CA
  • Cynthia Freehauf, Johan Van Hove, Kenneth Maclean, Can Ficicioglu, Loren Del Mar Pena, Hua Jiang, Kerrie Moreau, Patrick Henthorn, Uwe Christian, Tina Cowen, Sarah Young, Michelle Hite, Marisa Friederich, Sally Stabler, Elaine Spector, Kathryn Kronquist, Janet Thomas, Peggy Emmett. Biomarkers of Oxidative Stress, Inflammation, and Vascular Dysfunction in Inherited Cystathionine B-synthase Deficient Homocystinuria and the Impact of Taurine Treatment. 2017, ICIEM, Rio de Janeiro, Brazil
  • Kathryn C. Chatfield, Genevieve C. Sparagna, Sarah Chau, Michael J. Bennet, Adam J. Chicco, Marisa W. Friederich, Johan L.K. Van Hove, Shelley D. Miyamoto, Brian L. Stauffer. Alterations in the Mitochondrial Supercomplex in Pediatric Dilated Cardiomyopathy. 2017, Basic Cardiovascular Sciences Meeting, Portland, Oregon
  • Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, Bratkovic D, Derks TGJ, Bick D, Bouman K, Chatfield KC, Damouny-Naoum N, Dishop MK, Falik-Zaccai TC, Fares F, Fedida A, Ferrero I, Gallagher RC, Garesse R, Gilberti M, González C, Gowan K, Habib C, Halligan RK, Kalfon L, Knight K, Lefeber D, Mamblona L, Mandel H, Mory A, Ottoson J, Paperna T, Pruijn GJM, Rebelo-Guiomar PF, Saada A, Sainz B Jr, Salvemini H, Schoots MH, Smeitink JA, Szukszto MJ, Ter Horst HJ, van den Brandt F, van Spronsen FJ, Veltman JA, Wartchow E, Wintjes LT, Zohar Y, Fernández-Moreno MA, Baris HN, Donnini C, Minczuk M, Rodenburg RJ, Van Hove JLK. Pathogenic variants in glutamyl-tRNA(Gln) amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. Nat Commun. 2018 Oct 3;9(1):4065. PubMed PMID: 30283131
  • Vögtle FN, Brändl B, Larson A, Pendziwiat M, Friederich MW, White SM, Basinger A, Kücükköse C, Muhle H, Jähn JA, Keminer O, Helbig KL, Delto CF, Myketin L, Mossmann D, Burger N, Miyake N, Burnett A, van Baalen A, Lovell MA, Matsumoto N, Walsh M, Yu HC, Shinde DN, Stephani U, Van Hove JLK, Müller FJ, Helbig I. Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood. Am J Hum Genet. 2018 Apr 5;102(4):557-573. PubMed PMID: 29576218
  • Oláhová M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Frésard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT. Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. Am J Hum Genet. 2018 Mar 1;102(3):494-504. PubMed PMID: 29478781
  • Marisa W Friederich, Sharita Timal, Christopher Powell, Cristina Dallabona, Alina Kurolap, Sara Palacios-Zambrano, Drago Bratkovic, Terry Derks, Miguel A. Fernández-Moreno, Hagit N Baris, Claudia Donnini, Michal Minczuk, Richard J. Rodenburg, Johan L.K. Van Hove. Mutations in the genes QRSL1, GATB, and GATC encoding the subunits of glutamyl-tRNAGln amidotransferase cause a mitochondrial disorder with lethal infantile cardiomyopathy. (2018) Mol Genet Metab 123, 206
  • Kaz Knight, Marisa W. Friederich, Rudy Van Coster, Joel Smet, Elise Vantroys, Michio Hirano, Amy Goldstein, Johan L.K. Van Hove. New mitochondrial diagnostic testing in fibroblasts, a minimally invasive tissue, identifies sensitive functional testing methods for complex I deficient primary mitochondrial disorders (2018) Mol Genet Metab 123, 202.
  • Michael A. Swanson, Marisa Friederich, Hua Jiang, Kaz Knight, Leilani Rodriguez, Nicholas Greene, Linda Johnson, Kenneth MacLean, and Johan Van Hove. Characterization of a new nonketotic hyperglycinemia mouse model with an unstable missense mutation in GLDC. (2018) Mol Genet Metab 123, 210.
  • Marisa W. Friederich, Austin A. Larson, Aaron Landry, David Dimmock, Jia Huang, Kenneth MacLean, Ruma Bannerjee, Johan L.K. Van Hove. Mutations in SQOR encoding sulfide:quinone oxidoreductase cause fatal Leigh disease. AussieMit, Melbourne, Australia 2018
  • Marisa W Friederich, Sharita Timal, Christopher Powell, Cristina Dallabona, Alina Kurolap, Sara Palacios-Zambrano, Drago Bratkovic, Terry Derks, Miguel A. Fernández-Moreno, Hagit N Baris, Claudia Donnini, Michal Minczuk, Richard J. Rodenburg, Johan L.K. Van Hove. Mutations in QRSL1, GATB, and GATC encoding glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy. ICIEM, Athens, Greece 2018
  • Johan L.K. Van Hove, Marisa W. Friederich, Kaz Knight, Rudy Van Coster, Joel Smet, Elise Vantroys, Michio Hirano, Amy Goldstein. Clinical utility of established and new mitochondrial diagnostic testing in fibroblasts, a minimally invasive tissue, identifies sensitive functional testing methods for complex I deficient mitochondrial disorders. UMDF, Nashville, TN 2018
  • Bennett B, Helbling D, Meng H, Jarzembowski J, Geurts AM, Friederich MW, Van Hove JL, Lawlor MW, Dimmock DP. Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome. Free Radic Biol Med. 2016 Mar;92:141-51. PubMed PMID: 26773591
  • Newell C, Khan A, Sinasac D, Shoffner J, Friederich MW, Van Hove JLK, Hume S, Shearer J, Sosova I. Hybrid gel electrophoresis using skin fibroblasts to aid in diagnosing mitochondrial disease. Neurol Genet. 2019 Jun;5(3):e336. PubMed PMID: 31192304
  • Van Hove JLK, Freehauf CL, Ficicioglu C, Pena LDM, Moreau KL, Henthorn TK, Christians U, Jiang H, Cowan TM, Young SP, Hite M, Friederich MW, Stabler SP, Spector EB, Kronquist KE, Thomas JA, Emmett P, Harrington MJ, Pyle L, Creadon-Swindell G, Wempe MF, MacLean KN. Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine ß-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial. J Inherit Metab Dis. 2019 May;42(3):424-437. PubMed PMID: 30873612
  • Wempe MF, Kumar A, Kumar V, Choi YJ, Swanson MA, Friederich MW, Hyland K, Yue WW, Van Hove JLK, Coughlin CR 2nd. Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening. J Inherit Metab Dis. 2019 May;42(3):565-574. PubMed PMID: 30663059
  • Van Hove J L K, Friederich M W, Elias A F, Larson A, Landry A, Ellwood-Digel L, Mirsky D, Dimmock D, Haven J,Jiang H, MacLean K N, Friederich M, Banerjee R. Mutations inSQORencoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease. J Inherit Metab Dis 2019 Sept 42:21.
  • Marisa W. Friederich, Abdallah Elias, Austin A. Larson, Aaron Landry, Logan Ellwood-Diegel, David Mirsky, David Dimmock, Jaclyn Haven, Hua Jiang, Kenneth N. MacLean, Maike Friederich, Ruma Bannerjee, Johan L.K. Van Hove. Mutations in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.2019 UMDF Annual Meeting, Washington, D.C.
  • Marisa W. Friederich, Abdallah F. Elias, Austin A. Larson,Aaron Landry, Logan Ellwood-Diegel, David Mirksy, DavidDimmock, Sara Boutilier, Hua Jiang, Kenneth Maclean, MaikeFriederich, Ruma Bannerjee, Johan L.K. Van Hove. Mutations in SQOR encoding sulfide:quinone oxidoreductase cause fatal Leigh disease. Mol Genet Metab. March 2019 126(3):201.
  • Bjoraker KJ, Swanson MA, Coughlin CR 2nd, Christodoulou J, Tan ES, Fergeson M, Dyack S, Ahmad A, Friederich MW, Spector EB, Creadon-Swindell G, Hodge MA, Gaughan S, Burns C, Van Hove JL. Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia. J Pediatr. 2016 Mar;170:234-9. PubMed PMID: 26749113
  • Scalais E, Osterheld E, Weitzel C, De Meirleir L, Mataigne F, Martens G, Shaikh T, Coughlin C II, Yu H-C, Swanson M, Friederich M, Scharer G, Helbling D, Wendt-Andrea J, Van Hove J. Cobalamin X (HCFC1 deficiency) mimicking nonketotic hyperglycinemia (NKH) with increased CSF glycine, methylmalonic acid and hydroxyisovalerate.
  • Jirair K. Bedoyan, Alexander Miron, Xiaoping Huang, Didem Demirbas Cakici, Irina Anselm, Marisa Friederich, Shulin Zhang, Mitchell Drumm, Johan Van Hove, Gerard T. Berry, Suzanne D. DeBrosse Charles Hoppel and Douglas S. Kerr. Diagnosis of genetically unresolved subjects with functional pyruvate dehydrogenase complex deficiencies using advanced genomic technologies with functional confirmation. Annual Meeting of the Society for Inherited Metabolic Diseases, Ponte Vedra Beach, FL, March 2016. Oral presentation and abstract published in Molecular Genetics and Metabolism 2016; 117:232-233.
  • Friederich MW, Coughlin II CR, Jiang H, O’Rourke C, Lovell MA, Gowan K, Van Hove JKL. Mutations in NDUFB10 result in isolated complex I deficiency due to incomplete assembly of complex I holoenzyme. Pediatric Research Poster Session, University of Colorado/CHCO Aurora, CO Jan 2016
  • Kripps KA*, Friederich MW*, Chen T, Larson AA, Mirsky DM, Wang Y, Tanji K, Knight KM, Wong LJ, Van Hove JLK. A novel acceptor stem variant in mitochondrial tRNA(Tyr) impairs mitochondrial translation and is associated with a severe phenotype. Mol Genet Metab. 2020 Dec;131(4):398-404. PubMed PMID: 33279411
  • Knight KM, Shelkowitz E, Larson AA, Mirsky DM, Wang Y, Chen T, Wong LJ, Friederich MW*, Van Hove JLK*. The mitochondrial DNA variant m.9032T > C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome. Mitochondrion. 2020 Nov;55:8-13. PubMed PMID: 32931937
  • Bennett J, Kerr M, Greenway SC, Friederich MW, Van Hove JLK, Hittel D, Khan A. Improved lactate control with dichloroacetate in a case with severe neonatal lactic acidosis due to MTFMT mitochondrial translation disorder. Mol Genet Metab Rep. 2020 Sep;24:100616. PubMed PMID: 32577402
  • Friederich MW, Elias AF, Kuster A, Laugwitz L, Larson AA, Landry AP, Ellwood-Digel L, Mirsky DM, Dimmock D, Haven J, Jiang H, MacLean KN, Styren K, Schoof J, Goujon L, Lefrancois T, Friederich M, Coughlin CR 2nd, Banerjee R, Haack TB, Van Hove JLK. Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease. J Inherit Metab Dis. 2020 Sep;43(5):1024-1036. PubMed PMID: 32160317
  • Friederich MW, Perez FA, Knight KM, Van Hove RA, Yang SP, Saneto RP, Van Hove JLK. Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement. Mol Genet Metab. 2020 Mar;129(3):236-242. PubMed PMID: 31917109
  • Jennifer H. Yang MD, Kataryna Ellsworth PhD, Emily Foreman MD, Aliya Frederick MD PhD, Denise Malicki, MD PhD, Marisa W. Friederich PhD, Johan Van Hove MD PhD, Shifteh Sattar MD, Kristen Wigby MD, Richard Haas MD A homozygous variant in the NFS1 gene identified by rapid WGS: A case of progressive weakness and hypotonia.
  • Friederich MW, Geddes GC, Wortmann SB, Punnoose A, Wartchow E, Knight KM, Prokisch H, Creadon-Swindell G, Mayr JA, Van Hove JLK. Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect. Mol Genet Metab. 2021 Aug;133(4):362-371. PubMed PMID: 34140213
  • Larson A. Friederich M Coughlin C R II, Van Hove J LK.9032T>C is a new pathogenic variant in mtDNA resulting in impaired assembly of complex V. Poster presentation at the Annual meeting of the United Mitochondrial Disease Foundation. Seattle, June 2016.
  • Balderas E, Eberhardt DR, Lee S, Pleinis JM, Sommakia S, Balynas AM, Yin X, Parker MC, Maguire CT, Cho S, Szulik MW, Bakhtina A, Bia RD, Friederich MW, Locke TM, Van Hove JLK, Drakos SG, Sancak Y, Tristani-Firouzi M, Franklin S, Rodan AR, Chaudhuri D. Author Correction: Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment. Nat Commun. 2022 Jun 20;13(1):3532. PubMed PMID: 35725853
  • Ganapathi M, Friocourt G, Gueguen N, Friederich MW, Le Gac G, Okur V, Loaëc N, Ludwig T, Ka C, Tanji K, Marcorelles P, Theodorou E, Lignelli-Dipple A, Voisset C, Walker MA, Briere LC, Bourhis A, Blondel M, LeDuc C, Hagen J, Cooper C, Muraresku C, Ferec C, Garenne A, Lelez-Soquet S, Rogers CA, Shen Y, Strode DK, Bizargity P, Iglesias A, Goldstein A, High FA, Network UD, Sweetser DA, Ganetzky R, Van Hove JLK, Procaccio V, Le Marechal C, Chung WK. A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. J Inherit Metab Dis. 2022 Sep;45(5):996-1012. PubMed PMID: 35621276
  • Balderas E, Eberhardt DR, Lee S, Pleinis JM, Sommakia S, Balynas AM, Yin X, Parker MC, Maguire CT, Cho S, Szulik MW, Bakhtina A, Bia RD, Friederich MW, Locke TM, Van Hove JLK, Drakos SG, Sancak Y, Tristani-Firouzi M, Franklin S, Rodan AR, Chaudhuri D. Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment. Nat Commun. 2022 May 19;13(1):2769. PubMed PMID: 35589699
  • Swanson MA, Miller K, Young SP, Tong S, Ghaloul-Gonzalez L, Neira-Fresneda J, Schlichting L, Peck C, Gabel L, Friederich MW, Van Hove JLK. Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia. J Inherit Metab Dis. 2022 Jul;45(4):734-747. PubMed PMID: 35357708
  • Yang JH, Friederich MW, Ellsworth KA, Frederick A, Foreman E, Malicki D, Dimmock D, Lenberg J, Prasad C, Yu AC, Anthony Rupar C, Hegele RA, Manickam K, Koboldt DC, Crist E, Choi SS, Farhan SMK, Harvey H, Sattar S, Karp N, Wong T, Haas R, Van Hove JLK, Wigby K. Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes. Hum Mutat. 2022 Mar;43(3):305-315. PubMed PMID: 35026043
  • Van Hove JLK, Swanson MA, Miller K, Young SP, Tong S, Ghaloul-Gonzalez L, Neira-Fresneda J, Schlichting L, Peck C, Gabel L, Friederich MW. Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia. SSIEM, Freiburg, Germany 2022.
  • Johan L.K. Van Hove, Marisa W. Friederich, Dana K. Strode, Roxanne A. Van Hove, Kristen Miller, Linda Gabel, Simon Horslen, Rohit Kohli, Mark Lovell, Alex Miethke, Jean Molleston, Rene Romero, James Squires, Robert Squires, Shikha Sundaram, John Magee, Ronald J. Sokol, on behalf of the Childhood Liver Disease Research Network (ChiLDReN). Analysis of protein biomarkers to identify mitochondrial hepatopathies from other liver diseases. Poster presentation at the Annual meeting of the Society for the Study of Inborn Errors of Metabolism SSIEM 2022, Freiburg, Germany, August 30 – September 3, 2022.
  • Sokol R, Friederich MW, Strode DK, Van Hove RA, Miller K, Gabel L, Horslen S, Kohli R, LovMolleston J, Romero R, Squires J, Squires R, Sundaram S, Magee J, Van Hove JLK on behalf of the Childhood Liver Disease Research Network (ChiLDReN, Accuracy of GDF15 and FGF21 to differentitate mitochondrial hepatopathies (MH) from other pediatric liver diseases. American Association for the Study of Liver Diseases (AASLD) meeting, Washington DC 2-4 November 2022. Oral presentation.
  • Sokol R, Friederich MW, Strode DK, Van Hove RA, Miller K, Gabel L, Horslen S, Kohli R, LovMolleston J, Romero R, Squires J, Squires R, Sundaram S, Magee J, Van Hove JLK on behalf of the Childhood Liver Disease Research Network (ChiLDReN) Accuracy of GDF15 and FGF21 to differentitate mitochondrial hepatopathies (MH) from other pediatric liver diseases. The ChiLDReN meeting, Washington DC September 21-22 Oral presentation,
  • Van Hove JLK, Friederich MW, Strode DK, Van Hove RA, Miller KR, Gabel L, Horslen S, Kohli R, Lovell M, Miethke A, Molleston J, Romero R, Squires J, Squires R, Sundaram SS, Magee J, Sokol RJ, on behalf of the Childhood Liver Disease Research Network (ChiLDReN). Protein biomarkers GDF15 and FGF21 differentiate mitochondrial hepatopathies from other pediatric liver diseases. Aussiemit, Sydney, Australia, November 16-18.
  • Squires JE, Miethke AG, Valencia CA, Hawthorne K, Henn L, Van Hove JLK, Squires RH, Bove K, Horslen S, Kohli R, Molleston JP, Romero R, Alonso EM, Bezerra JA, Guthery SL, Hsu E, Karpen SJ, Loomes KM, Ng VL, Rosenthal P, Mysore K, Wang KS, Friederich MW, Magee JC, Sokol RJ. Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children. Hepatol Commun. 2023 Jun 1;7(6). PubMed PMID: 37184518
  • Poquérusse J, Nolan M, Thorburn DR, Van Hove JLK, Friederich MW, Love DR, Taylor J, Powell CA, Minczuk M, Snell RG, Lehnert K, Glamuzina E, Jacobsen JC. Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease. JIMD Rep. 2023 May;64(3):223-232. PubMed PMID: 37151360
  • Danica Novacic, Dana K. Strode, Roxanne A. Van Hove, Marisa W. Friederich, Johan L.K. Van Hove, Wiliam Gahl (2023) Case Repot: PPA2 Deficiency Phenotype ACMG, Salt Lake City, UT
  • Van Hove JLK, Friederich MW, Strode DK, Van Hove RA, Miller KR, Sharma R, Shah H, Estrella J, Gabel L, Horslen S, Kohli R, Lovell MA, Miethke AG, Molleston JP, Romero R, Squires JE, Alonso EM, Guthery SL, Kamath BM, Loomes KM, Rosenthal P, Mysore KR, Cavallo LA, Valentino PL, Magee JC, Sundaram SS, Sokol RJ, on behalf of the Childhood Liver Disease Research Network. Protein biomarkers GDF15 and FGF21 to Differentiate Mitochondrial Hepatopathies from Other Pediatric Liver Diseases. Hepatol Commun. 2023, In Press.

Practice Locations

Hospital Affiliation
  • Children's Hospital Colorado

Care Philosophy
My goal is to provide the most comprehensive analysis to patients with suspected mitochondrial disease. This is achieved through the clinical lab at CHCO and the research laboratory at the University of Colorado AMC.


School of Medicine

CU Anschutz
Fitzsimons Building

13001 East 17th Place

Aurora, CO 80045

303.724.5375

School
General
Students