Research area · week to 3 Oct 2026

Metabolism and Genetic Disorders

Moving in bioRxiv, Frontiers in Genetics, Journal of hepatology, Blood, Cell Reports, eLife, Gut, mSystems.

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Mycobacterium tuberculosis requires riboflavin biosynthesis for survival in the host
bioRxiv · 26 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.09.25.754416
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D-serine suppresses one-carbon metabolism by competing with mitochondrial L-serine transport
bioRxiv · 26 Sept 2026 · Preprint
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https://jclub.com.au/a/10.1101/2024.09.03.610855
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Structural Mechanism of Filamentation Induced Dampening of GTP Inhibition of Glutamate Dehydrogenase
bioRxiv · 25 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.07.06.736867
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Disruption of mitochondrial integrity impairs early lineage specification and embryonic development in the novel conditional MitoAtDarT mouse model
bioRxiv · 25 Sept 2026 · Preprint
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https://jclub.com.au/a/10.1101/2025.07.14.664670
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Product-stabilized filamentation by human glutamine synthetase allosterically tunes metabolic activity
bioRxiv · 21 Sept 2026 · Preprint
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https://jclub.com.au/a/10.1101/2025.07.04.663231
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Metabolic benefits of dietary medium-chain fatty acids bypass hepatic ketogenesis
bioRxiv · 17 Sept 2026 · Preprint
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https://jclub.com.au/a/10.1101/2025.10.08.681190
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Innovative CRISPR Etf-QO Mutant Knock-in Model Mimics MADD-associated Lipid Storage Myopathy and Reveal Therapeutic Potential of Exercise Intervention
bioRxiv · 14 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.05.18.726022
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N-Acetylaspartate Synthesis as a Thermodynamic Relief Mechanism for Mitochondrial Aspartate Aminotransferase
bioRxiv · 9 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.06.29.735215
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CPS1: a multipurpose mitochondrial enzyme, bile protein, acute liver injury biomarker, and cytokine.
Gut · 7 Sept 2026 · Review
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https://jclub.com.au/a/41629147
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Cardiolipin deficiency disrupts electron transport chain and drives steatohepatitis.
eLife · 2 Sept 2026 · Journal Article
Cardiolipin deficiency in mitochondria impairs electron transport chain function and causes steatohepatitis in mice and humans.
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https://jclub.com.au/a/42684124
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Optimized lentiviral vectors a solution for paediatric metabolic liver diseases.
Journal of hepatology · 1 Sept 2026 · Editorial
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https://jclub.com.au/a/42336153
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Liver-directed lentiviral gene therapy confers durable hepatic and systemic amelioration of methylmalonic acidemia in mice.
Journal of hepatology · 1 Sept 2026 · Journal Article
Liver-directed lentiviral gene therapy achieves long-lasting metabolic correction in MMA mice, with over 80% hepatocyte transduction and therapeutic effects lasting more than a year.
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https://jclub.com.au/a/42191028
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Case Report: Persistent isolated hyperhomocysteinemia in an adolescent with celiac disease and homozygous MTHFR c.665C>T polymorphism: a multifactorial disturbance of one-carbon metabolism.
Frontiers in Genetics · 26 Aug 2026 · Case Reports
Persistent hyperhomocysteinemia in an adolescent with celiac disease and homozygous MTHFR c.665C>T polymorphism was significantly reduced by targeted vitamin therapy.
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https://jclub.com.au/a/42713553
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Gut metaproteomics reveals activated arginine catabolism and impaired arginine biosynthesis in systemic lupus erythematosus.
mSystems · 18 Aug 2026 · Journal Article
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https://jclub.com.au/a/42429656
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Clinical application of long-read sequencing in newborn genetic screening for congenital adrenal hyperplasia.
Frontiers in Genetics · 10 Aug 2026 · Journal Article
Long-read sequencing combined with biochemical screening improves detection of congenital adrenal hyperplasia, identifying pathogenic CYP21A2 mutations in 1 in 20,029 neonates.
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https://jclub.com.au/a/42634743
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HAX1 drives assembly and activation of the mitochondrial intermembrane space chaperone CLPB
bioRxiv · 9 Aug 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.05.24.727526
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Diurnal regulation of Acyl-CoA synthetase 3 (ACSF3) governs rhythmic mitochondrial lysine-malonylation and daily hepatic metabolism.
Cell Reports · 7 Aug 2026 · Journal Article
Hepatic ACSF3 regulates rhythmic lysine-malonylation and daily liver metabolism, with knockdown disrupting glucose and lipid homeostasis in mice.
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https://jclub.com.au/a/42570241
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l-Carnitine regulates regeneration of human hematopoietic stem and progenitor cells.
Blood · 6 Aug 2026 · Journal Article
l-Carnitine enhances human hematopoietic stem cell regeneration by activating fatty acid oxidation and mitochondrial metabolism, as shown in primary cell assays.
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https://jclub.com.au/a/42189862
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