Christopher B. Jackson

Publications

• The Roles of Assembly Factors in Mammalian Mitoribosome Biogenesis
  Mitochondrion. Sep, 2021  |   Pubmed ID: 34339868
• In-frame Deletion in Canine PITRM1 is Associated with a Severe Early-onset Epilepsy, Mitochondrial Dysfunction and Neurodegeneration
  Human Genetics. Nov, 2021  |   Pubmed ID: 33835239
• Progressive Myoclonus Epilepsies-Residual Unsolved Cases Have Marked Genetic Heterogeneity Including Dolichol-dependent Protein Glycosylation Pathway Genes
  American Journal of Human Genetics. 04, 2021  |   Pubmed ID: 33798445
• SUCLA2 Mutations Cause Global Protein Succinylation Contributing to the Pathomechanism of a Hereditary Mitochondrial Disease
  Nature Communications. 11, 2020  |   Pubmed ID: 33230181
• Therapeutic Manipulation of MtDNA Heteroplasmy: A Shifting Perspective
  Trends in Molecular Medicine. 07, 2020  |   Pubmed ID: 32589937
• 3D Co-culture of HiPSC-Derived Cardiomyocytes With Cardiac Fibroblasts Improves Tissue-Like Features of Cardiac Spheroids
  Frontiers in Molecular Biosciences. 2020  |   Pubmed ID: 32118040
• Fibroblast Growth Factor 21 Drives Dynamics of Local and Systemic Stress Responses in Mitochondrial Myopathy with MtDNA Deletions
  Cell Metabolism. 12, 2019  |   Pubmed ID: 31523008
• Novel Synonymous and Missense Variants in FGFR1 Causing Hartsfield Syndrome
  American Journal of Medical Genetics. Part A. 12, 2019  |   Pubmed ID: 31512363
• A Variant in MRPS14 (uS14m) Causes Perinatal Hypertrophic Cardiomyopathy with Neonatal Lactic Acidosis, Growth Retardation, Dysmorphic Features and Neurological Involvement
  Human Molecular Genetics. 02, 2019  |   Pubmed ID: 30358850
• Neutrophil Extracellular Trap Formation Requires OPA1-dependent Glycolytic ATP Production
  Nature Communications. 07, 2018  |   Pubmed ID: 30054480
• Reply to 'Letter to Editor by Finsterer J and Zarrouk-Mahjoub S: Phenotypic Manifestations of the M.8969G>A Variant'
  Neurogenetics. 05, 2018  |   Pubmed ID: 29480378
• Defective Mitochondrial ATPase Due to Rare MtDNA M.8969G>A Mutation-causing Lactic Acidosis, Intellectual Disability, and Poor Growth
  Neurogenetics. 01, 2018  |   Pubmed ID: 29350304
• Loss of MtDNA Activates Astrocytes and Leads to Spongiotic Encephalopathy
  Nature Communications. 01, 2018  |   Pubmed ID: 29302033
• A Novel Mitochondrial ATP6 Frameshift Mutation Causing Isolated Complex V Deficiency, Ataxia and Encephalomyopathy
  European Journal of Medical Genetics. Jun, 2017  |   Pubmed ID: 28412374
• SDHA Mutation with Dominant Transmission Results in Complex II Deficiency with Ocular, Cardiac, and Neurologic Involvement
  American Journal of Medical Genetics. Part A. Jan, 2017  |   Pubmed ID: 27683074
• A Novel Mutation in BCS1L Associated with Deafness, Tubulopathy, Growth Retardation and Microcephaly
  European Journal of Pediatrics. Apr, 2016  |   Pubmed ID: 26563427