Metabolism and Genetic Disorders

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Cold activates a BH2 metabolic network promoting longevity and proteostasis.
Nature · 21 Oct 2026 · Journal Article
Cold activates a BH2 metabolic network that promotes longevity and proteostasis in Caenorhabditis elegans, with increased BH2 synthesis in muscle being sufficient for these effects.
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Practice-Based Insights into Adult Genetic Medicine: High Diagnostic Yield, Indication-Specific Results, and Patterns of Test Utilization across 10,000 Patient Encounters
medRxiv · 15 Oct 2026 · Preprint
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https://jclub.com.au/a/10.1101/2025.10.09.25337579
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Menkes Disease.
New England Journal of Medicine · 8 Oct 2026 · Case Reports
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Prevalence of migalastat-amenable variants in patients with Fabry disease from Brazil, Argentina, and Colombia: an observational study.
Frontiers in Genetics · 5 Oct 2026 · Journal Article
Sixty percent of individuals with Fabry disease in Brazil, Argentina, and Colombia have GLA variants that may respond to migalastat treatment.
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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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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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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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Case Report: Co-occurrence of Wilson disease and tuberous sclerosis complex in a Chinese patient.
Frontiers in Genetics · 25 Sept 2026 · Case Reports
A 28-year-old Chinese woman was diagnosed with both Wilson disease and tuberous sclerosis complex, marking the first reported case of their co-occurrence.
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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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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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Optimized lentiviral vectors a solution for paediatric metabolic liver diseases.
Journal of hepatology · 1 Sept 2026 · Editorial
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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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Establishment of human induced pluripotent stem cell lines and isogenic gene-corrected controls from three patients with prolidase deficiency.
Stem cell research · 1 Sept 2026 · Journal Article
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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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