Marisa Friederich, PhD
Associate Professor, Pediatrics-Clinical Genetics and Metabolism

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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

Recognition & Awards

  • 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

  • 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.
  • 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
  • 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.
  • 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
  • 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.
  • 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.
  • 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
  • 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.
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
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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.

General Information

Graduate Schools:
  • PhD, University of Colorado Health Sciences Center (1995)
Undergraduate Schools:
  • BS, University of Maryland–College Park (1987)
Department: Pediatrics-Clinical Genetics and Metabolism
SOM Resources
CU Resources
Contact Us
CU Anschutz
Fitzsimons Building
13001 East 17th Place
Campus Box C290
Aurora, CO 80045

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