Lynne Rumping
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View article: The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes
The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes Open
View article: Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant
Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant Open
View article: A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy
A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy Open
Glutaminase (GLS) hyperactivity was first described in 2019 in a patient with profound developmental delay and infantile cataract. Here, we describe a 4‐year‐old boy with GLS hyperactivity due to a de novo heterozygous missense variant in …
View article: “Hypothesis: Patient with possible disturbance in programmed cell death”: further insights in pathogenicity and clinical features of Fraser syndrome
“Hypothesis: Patient with possible disturbance in programmed cell death”: further insights in pathogenicity and clinical features of Fraser syndrome Open
View article: Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel <scp><i>FLNA</i></scp> variant
Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel <span><i>FLNA</i></span> variant Open
Terminal osseous dysplasia with pigmentary defects (TODPD), also known as digitocutaneous dysplasia, is one of the X‐linked filaminopathies caused by a variety of FLNA ‐variants. TODPD is characterized by skeletal defects, skin fibromata a…
View article: Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity
Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity Open
By providing a metabolic fingerprint of increasing GLS activity, this study shows the large impact of high glutaminase activity on the cellular metabolome.
View article: Inborn errors of enzymes in glutamate metabolism
Inborn errors of enzymes in glutamate metabolism Open
Glutamate is involved in a variety of metabolic pathways. We reviewed the literature on genetic defects of enzymes that directly metabolise glutamate, leading to inborn errors of glutamate metabolism. Seventeen genetic defects of glutamate…
View article: Glutamate metabolism revisited : Clarifying the pathophysiology of GLS mutations
Glutamate metabolism revisited : Clarifying the pathophysiology of GLS mutations Open
Inborn Errors of Metabolism (IEMs) are a class of inherited genetic disorders caused by variants in genes coding for proteins that function in metabolism. The research presented in this thesis describes the identification and disease mecha…
View article: Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy
Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy Open
We identified a novel autosomal recessive neurometabolic disorder of loss of function of glutaminase that leads to lethal early neonatal encephalopathy. This inborn error of metabolism underlines the importance of GLS for appropriate gluta…
View article: GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay
GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay Open
Loss-of-function mutations in glutaminase (GLS), the enzyme converting glutamine into glutamate, and the counteracting enzyme glutamine synthetase (GS) cause disturbed glutamate homeostasis and severe neonatal encephalopathy. We report a d…