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Author Details

David M Koeller
Oregon Health & Science University
1970
80
34
PMIDPaper TitleJournal TitlePublished Year
37847346The CPT1A Arctic variant: perspectives of community members and providers in two Alaska tribal health settings.J Community Genet2023
33883556A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases.Sci Data2021
32544203yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.PLoS Genet2020
31742994Statistically Driven Metabolite and Lipid Profiling of Patients from the Undiagnosed Diseases Network.Anal Chem2020
33104717Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.PLoS Genet2020
29478781Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.Am J Hum Genet2018
30304647Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.N Engl J Med2018
29780943Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa Syndrome.Am J Ophthalmol Case Rep2018
27834756Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.J Med Genet2017
28771253Health effects of the CPT1A P479L variant: responsible public health policy.Genet Med2017
28762469Impairment of GABAergic system contributes to epileptogenesis in glutaric acidemia type I.Epilepsia2017
28657663Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease.Am J Med Genet A2017
27853989Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.J Inherit Metab Dis2017
26728034LmABCB3, an atypical mitochondrial ABC transporter essential for Leishmania major virulence, acts in heme and cytosolic iron/sulfur clusters biogenesis.Parasit Vectors2016
26773786Normal vitamin D levels and bone mineral density among children with inborn errors of metabolism consuming medical food-based diets.Nutr Res2016
26820065Evidence for an association between infant mortality and homozygosity for the arctic variant of carnitine palmitoyltransferase 1A.Genet Med2016
25558815Multifactorial modulation of susceptibility to l-lysine in an animal model of glutaric aciduria type I.Biochim Biophys Acta2015
26490222Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.Mol Genet Metab2015
26478912CSF and Blood Levels of GFAP in Alexander DiseaseeNeuro2015
24468193Mechanism of metabolic stroke and spontaneous cerebral hemorrhage in glutaric aciduria type I.Acta Neuropathol Commun2014
24996493Acute lysine overload provokes protein oxidative damage and reduction of antioxidant defenses in the brain of infant glutaryl-CoA dehydrogenase deficient mice: a role for oxidative stress in GA I neuropathology.J Neurol Sci2014
24928700Reply: To PMID 23992672.J Pediatr2014
24862382Reply: To PMID 23992672.J Pediatr2014
24594605Increased glutamate receptor and transporter expression in the cerebral cortex and striatum of gcdh-/- mice: possible implications for the neuropathology of glutaric acidemia type I.PLoS One2014
23218171Disruption of brain redox homeostasis in glutaryl-CoA dehydrogenase deficient mice treated with high dietary lysine supplementation.Mol Genet Metab2013
23992672Association of a genetic variant of carnitine palmitoyltransferase 1A with infections in Alaska Native children.J Pediatr2013
23623985Acute renal proximal tubule alterations during induced metabolic crises in a mouse model of glutaric aciduria type 1.Biochim Biophys Acta2013
23201428Neurodevelopmental and cognitive behavior of glutaryl-CoA dehydrogenase deficient knockout mice.Life Sci2013
22578804Marked reduction of Na(+), K(+)-ATPase and creatine kinase activities induced by acute lysine administration in glutaryl-CoA dehydrogenase deficient mice.Mol Genet Metab2012
22999741Reduction of Na+, K+-ATPase activity and expression in cerebral cortex of glutaryl-CoA dehydrogenase deficient mice: a possible mechanism for brain injury in glutaric aciduria type I.Mol Genet Metab2012
22445450Induction of oxidative stress in brain of glutaryl-CoA dehydrogenase deficient mice by acute lysine administration.Mol Genet Metab2012
22520952Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience.Mol Genet Metab2012
20923787Therapeutic modulation of cerebral L-lysine metabolism in a mouse model for glutaric aciduria type I.Brain2011
21763168Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant.Mol Genet Metab2011
21431622Diagnosis and management of glutaric aciduria type I--revised recommendations.J Inherit Metab Dis2011
21454630Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells.J Biol Chem2011
20843525Prevalence and distribution of the c.1436Câ¿¿T sequence variant of carnitine palmitoyltransferase 1A among Alaska Native infants.J Pediatr2011
20177050Hepatocyte-targeted HFE and TFR2 control hepcidin expression in mice.Blood2010
20937660Evidence for an association between infant mortality and a carnitine palmitoyltransferase 1A genetic variant.Pediatrics2010
18348873Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1.Biochim Biophys Acta2008
17203377Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).J Inherit Metab Dis2007
173568453-Hydroxyglutaric acid is transported via the sodium-dependent dicarboxylate transporter NaDC3.J Mol Med (Berl)2007
16573641Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency.J Neurochem2006
16870879Lysine intake and neurotoxicity in glutaric aciduria type I: towards a rationale for therapy?Brain2006
16641220Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.Pediatr Res2006
15840571Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency: a role for glutaryl-coenzyme A.J Biol Chem2005
14705106Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency.Ann Neurol2004
15225610The mitochondrial ABC transporter Atm1p functions as a homodimer.FEBS Lett2004
15505391Challenges for basic research in glutaryl-CoA dehydrogenase deficiency.J Inherit Metab Dis2004
15505389Vascular dysfunction as an additional pathomechanism in glutaric aciduria type I.J Inherit Metab Dis2004
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Collaborators

Thalia Wood
Co-authored papers 7
Thomas O Metz
Pacific Northwest National Laboratory
Co-authored papers 6
Jennifer E Kyle
Pacific Northwest National Laboratory
Co-authored papers 5
Kelly G Stratton
Pacific Northwest National Laboratory
Co-authored papers 5
Erika M Zink
Pacific Northwest National Laboratory
Co-authored papers 4
Bobbie-Jo M Webb-Robertson
Pacific Northwest National Laboratory
Co-authored papers 3
William A Gahl
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 3
Young-Mo Kim
Hanyang University
Co-authored papers 3
Katrina M Waters
Pacific Northwest National Laboratory
Co-authored papers 3
David R Adams
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 3
Cynthia J Tifft
National Human Genome Research Institute
Co-authored papers 3
Monte Westerfield
Institute of Neuroscience, University of Oregon
Co-authored papers 3
Kent J Bloodsworth
Co-authored papers 3
Esther M Maier
Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University
Co-authored papers 3
Euan A Ashley
Stanford University
Co-authored papers 2
Carolyn Sue Richards
Oregon Health & Science University (OHSU)
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Jennifer B Phillips
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Markus Glatzel
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Ellen Macnamara
Co-authored papers 2
Jonathan A Bernstein
Stanford University
Co-authored papers 2
Matthew T Wheeler
Stanford University School of Medicine
Co-authored papers 2
May Christine V Malicdan
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 2
Shinya Yamamoto
Baylor College of Medicine, TX Jan and Dan Duncan Neurological Research Institute
Co-authored papers 2
Tracey A Rouault
Co-authored papers 2
Michael F Wangler
Baylor College of Medicine
Co-authored papers 2
Hugo J Bellen
Baylor College of Medicine
Co-authored papers 2
Jeremy Wegner
Co-authored papers 2
Aurélie Clément
Co-authored papers 2
Kevin A Strauss
Co-authored papers 2
Camilo Toro
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 2
Release 1.2