Publications by authors named "Marisa W Friederich"

21Publications

A novel acceptor stem variant in mitochondrial tRNA impairs mitochondrial translation and is associated with a severe phenotype.

Mol Genet Metab 2020 Dec 24;131(4):398-404. Epub 2020 Nov 24.

Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, CO, USA; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, 13121 East 16th Avenue, Aurora, CO, USA. Electronic address:

View Article and Find Full Text PDF
December 2020

The mitochondrial DNA variant m.9032T > C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome.

Mitochondrion 2020 11 12;55:8-13. Epub 2020 Sep 12.

Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, CO, USA; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, 13121 East 16th Avenue, Aurora, CO, USA. Electronic address:

View Article and Find Full Text PDF
November 2020

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 15;24:100616. Epub 2020 Jun 15.

Department of Medical Genetics and Pediatrics, Alberta Children's Hospital, Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.

View Article and Find Full Text PDF
September 2020

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 03 30;129(3):236-242. Epub 2019 Dec 30.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, RC1-N P18-4404K, 12800 East 19th Avenue, Aurora, CO 80045, USA; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, 13121 East 16th Avenue, Aurora, CO 80045, USA. Electronic address:

View Article and Find Full Text PDF
March 2020

Hybrid gel electrophoresis using skin fibroblasts to aid in diagnosing mitochondrial disease.

Neurol Genet 2019 Jun 1;5(3):e336. Epub 2019 May 1.

Department of Medical Genetics (C.N., A.K., D.S.) and Department of Pediatrics (A.K.), Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Atlanta (J. Shoffner), GA; Departments of Pediatrics (M.W.F., J.L.K.V.H.), Section of Clinical Genetics and Metabolism, University of Colorado; Department of Medical Genetics (S.H.), University of Alberta, Canada; Faculty of Kinesiology (J. Shearer), University of Calgary, Alberta, Canada; and Departments of Laboratory Medicine and Pathology (I.S.), University of Alberta, Edmonton, Canada.

View Article and Find Full Text PDF
June 2019

Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening.

J Inherit Metab Dis 2019 05 11;42(3):565-574. Epub 2019 Mar 11.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, Colorado.

View Article and Find Full Text PDF
May 2019

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 8;92:141-151. Epub 2016 Jan 8.

Human Molecular Genetics Center and Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA. Electronic address:

View Article and Find Full Text PDF
March 2016

Clinical and biochemical characterization of four patients with mutations in ECHS1.

Orphanet J Rare Dis 2015 Jun 18;10:79. Epub 2015 Jun 18.

Departments of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, AZ, 1105, The Netherlands.

View Article and Find Full Text PDF
June 2015

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.

J Med Genet 2015 Aug 18;52(8):532-40. Epub 2015 Mar 18.

Department of Pediatrics, Section of Genetics, University of Colorado School of Medicine, Aurora, Colorado, USA Intellectual and Developmental Disabilities Research Center, University of Colorado School of Medicine, Aurora, Colorado, USA.

View Article and Find Full Text PDF
August 2015

Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing.

Mitochondrion 2015 Mar 6;21:1-10. Epub 2015 Jan 6.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA. Electronic address:

View Article and Find Full Text PDF
March 2015