Erik Koppes
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View article: Mitochondrial bioenergetics and cardiolipin remodeling abnormalities in mitochondrial trifunctional protein deficiency
Mitochondrial bioenergetics and cardiolipin remodeling abnormalities in mitochondrial trifunctional protein deficiency Open
Mitochondrial trifunctional protein (TFP) deficiency is an inherited metabolic disorder leading to a block in long-chain fatty acid β-oxidation. Mutations in HADHA and HADHB, which encode the TFP α and β subunits, respectively, usually res…
View article: O17: Characterizing pathogenicity of ACADVL variants in very long-chain acyl-CoA dehydrogenase deficiency
O17: Characterizing pathogenicity of ACADVL variants in very long-chain acyl-CoA dehydrogenase deficiency Open
Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is an autosomal recessive inborn error of fatty acid metabolism resulting from biallelic mutations in the ACADVL gene. Patients with VLCADD present with biochemical dysfunction due…
View article: Insulin secretion deficits in a Prader-Willi syndrome β-cell model are associated with a concerted downregulation of multiple endoplasmic reticulum chaperones
Insulin secretion deficits in a Prader-Willi syndrome β-cell model are associated with a concerted downregulation of multiple endoplasmic reticulum chaperones Open
Prader-Willi syndrome (PWS) is a multisystem disorder with neurobehavioral, metabolic, and hormonal phenotypes, caused by loss of expression of a paternally-expressed imprinted gene cluster. Prior evidence from a PWS mouse model identified…
View article: Mitochondrial Bioenergetics and Cardiolipin Remodeling Abnormalities in Mitochondrial Trifunctional Protein Deficiency
Mitochondrial Bioenergetics and Cardiolipin Remodeling Abnormalities in Mitochondrial Trifunctional Protein Deficiency Open
View article: OP003: Characterization of variants of uncertain significance in very long-chain acyl-CoA dehyrogenase identified through newborn screening
OP003: Characterization of variants of uncertain significance in very long-chain acyl-CoA dehyrogenase identified through newborn screening Open
View article: Characterization of exonic variants of uncertain significance in very long‐chain acyl‐CoA dehydrogenase identified through newborn screening
Characterization of exonic variants of uncertain significance in very long‐chain acyl‐CoA dehydrogenase identified through newborn screening Open
Very long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD) is an autosomal recessive disease resulting from mutations in the ACADVL gene and is among the disorders tested for in newborn screening (NBS). Confirmatory sequencing following su…
View article: Mitochondrial dysfunction associated with TANGO2 deficiency
Mitochondrial dysfunction associated with TANGO2 deficiency Open
View article: Insulin secretion deficits in a Prader-Willi syndrome β-cell model are associated with a concerted downregulation of multiple endoplasmic reticulum chaperones
Insulin secretion deficits in a Prader-Willi syndrome β-cell model are associated with a concerted downregulation of multiple endoplasmic reticulum chaperones Open
Prader-Willi syndrome (PWS) is a multisystem disorder with neurobehavioral, metabolic, and hormonal phenotypes, caused by loss of expression of a paternally-expressed imprinted gene cluster. Prior evidence from a PWS mouse model identified…
View article: Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis
Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis Open
View article: A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editing
A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editing Open
Phenylalanine hydroxylase-deficient (PAH-deficient) phenylketonuria (PKU) results in systemic hyperphenylalaninemia, leading to neurotoxicity with severe developmental disabilities. Dietary phenylalanine (Phe) restriction prevents the most…
View article: Conditional depletion of <i>Fus</i> in oligodendrocytes leads to motor hyperactivity and increased myelin deposition associated with Akt and cholesterol activation
Conditional depletion of <i>Fus</i> in oligodendrocytes leads to motor hyperactivity and increased myelin deposition associated with Akt and cholesterol activation Open
Fused in sarcoma (FUS) is a predominantly nuclear multifunctional RNA/DNA‐binding protein that regulates multiple aspects of gene expression. FUS mutations are associated with familial amyotrophic lateral sclerosis (fALS) and frontotempora…
View article: Klf14 is an imprinted transcription factor that regulates placental growth
Klf14 is an imprinted transcription factor that regulates placental growth Open
View article: The Role of Genomic Imprints in Placental Biology
The Role of Genomic Imprints in Placental Biology Open
Genomic imprinting is a process by which heritable epigenetic marks at a subset of genomic loci are established in a sex-specific manner in parental gametes and then maintained in nascent offspring. This study probes the poorly understood …
View article: Partial Loss of Genomic Imprinting Reveals Important Roles for Kcnq1 and Peg10 Imprinted Domains in Placental Development
Partial Loss of Genomic Imprinting Reveals Important Roles for Kcnq1 and Peg10 Imprinted Domains in Placental Development Open
Mutations in imprinted genes or their imprint control regions (ICRs) produce changes in imprinted gene expression and distinct abnormalities in placental structure, indicating the importance of genomic imprinting to placental development. …
View article: Loss of inherited genomic imprints in mice leads to severe disruption in placental lipid metabolism
Loss of inherited genomic imprints in mice leads to severe disruption in placental lipid metabolism Open