Tim Sikora
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View article: Generation and characterisation of four human NAD(P)HX epimerase (NAXE) knockout iPSC lines
Generation and characterisation of four human NAD(P)HX epimerase (NAXE) knockout iPSC lines Open
Pathogenic variants in NAD(P)HX epimerase (NAXE) cause early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1), an ultra-rare severe neurometabolic disorder resulting in death in infancy. The absence o…
View article: Failure to repair damaged NAD(P)H blocks de novo serine synthesis in human cells
Failure to repair damaged NAD(P)H blocks de novo serine synthesis in human cells Open
Background Metabolism is error prone. For instance, the reduced forms of the central metabolic cofactors nicotinamide adenine dinucleotide (NADH) and nicotinamide adenine dinucleotide phosphate (NADPH), can be converted into redox-inactive…
View article: <i>CHD8</i> Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic Spectrum
<i>CHD8</i> Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic Spectrum Open
Rett syndrome (RTT) is a rare, X‐linked, severe neurodevelopmental disorder, predominantly associated with pathogenic variants in the methyl‐CpG‐binding protein‐2 ( MECP2 ) gene, with an increasing number of atypical RTT or RTT‐like indivi…
View article: Generation and heterozygous repair of human iPSC lines from two individuals with the neurodevelopmental disorder, TRAPPC4 deficiency
Generation and heterozygous repair of human iPSC lines from two individuals with the neurodevelopmental disorder, TRAPPC4 deficiency Open
A rare neurodevelopmental disorder has been linked to a well-conserved splice site variant in the TRAPPC4 gene (c.454 + 3A > G), which causes mis-splicing of TRAPPC4 transcripts and reduced levels of TRAPPC4 protein. Patients present with …
View article: TRAPPopathies: Severe Multisystem Disorders Caused by Variants in Genes of the Transport Protein Particle (TRAPP) Complexes
TRAPPopathies: Severe Multisystem Disorders Caused by Variants in Genes of the Transport Protein Particle (TRAPP) Complexes Open
The TRAPP (TRAnsport Protein Particle) protein complex is a multi-subunit complex involved in vesicular transport between intracellular compartments. The TRAPP complex plays an important role in endoplasmic reticulum-to-Golgi and Golgi-to-…
View article: Abstract 1596 Damage is Inevitable and Repair is Essential - Also in Metabolism
Abstract 1596 Damage is Inevitable and Repair is Essential - Also in Metabolism Open
A great majority of metabolic enzymes are nowadays genetically identified and gaps in metabolic pathways are becoming more exceptional. Metabolomic studies and protein database analyses indicate, however, that even in well-characterized or…
View article: Integrated multi-omics for rapid rare disease diagnosis on a national scale
Integrated multi-omics for rapid rare disease diagnosis on a national scale Open
Critically ill infants and children with rare diseases need equitable access to rapid and accurate diagnosis to direct clinical management. Over 2 years, the Acute Care Genomics program provided whole-genome sequencing to 290 families whos…
View article: Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma
Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma Open
We have previously reported that pathogenic variants in a key metabolite repair enzyme NAXD cause a lethal neurodegenerative condition triggered by episodes of fever in young children. However, the clinical and genetic spectrum of NAXD def…
View article: Clinical and biochemical distinctions for a metabolite repair disorder caused by <scp>NAXD</scp> or <scp>NAXE</scp> deficiency
Clinical and biochemical distinctions for a metabolite repair disorder caused by <span>NAXD</span> or <span>NAXE</span> deficiency Open
The central cofactors NAD(P)H are prone to damage by hydration, resulting in formation of redox‐inactive derivatives designated NAD(P)HX. The highly conserved enzymes NAD(P)HX dehydratase (NAXD) and NAD(P)HX epimerase (NAXE) function to re…
View article: SOD2 in skeletal muscle: New insights from an inducible deletion model
SOD2 in skeletal muscle: New insights from an inducible deletion model Open
View article: Tissue-specific expression of Cas9 has no impact on whole-body metabolism in four transgenic mouse lines
Tissue-specific expression of Cas9 has no impact on whole-body metabolism in four transgenic mouse lines Open
View article: SOD2 in Skeletal Muscle: New Insights from an Inducible Deletion Model
SOD2 in Skeletal Muscle: New Insights from an Inducible Deletion Model Open
Metabolic conditions such as obesity, insulin resistance and glucose intolerance are frequently associated with impairments in skeletal muscle function and metabolism. This is often linked to dysregulation of homeostatic pathways including…
View article: Detailed metabolic phenotyping of four tissue specific Cas9 transgenic mouse lines
Detailed metabolic phenotyping of four tissue specific Cas9 transgenic mouse lines Open
CRISPR/Cas9 technology has revolutionized gene editing and fast tracked our capacity to manipulate genes of interest for the benefit of both research and therapeutic applications. Whilst many advances have, and continue to be made in this …