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4. Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54

6. Naturally occurring cobalamin (B12) analogs can function as cofactors for human methylmalonyl-CoA mutase

9. The complex machinery of human cobalamin metabolism

10. The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency

15. Contributors

17. Nbeal2 interacts with Dock7, Sec16a, and Vac14

21. The Role of Protein Structural Analysis in the Next Generation Sequencing Era

22. Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation

23. Novel homozygous variants in PRORPexpand the genotypic spectrum of combined oxidative phosphorylation deficiency 54

27. NDP52 acts as a redox sensor in PINK1/Parkin‐mediated mitophagy

29. Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder

30. FAS2FURIOUS: Moderate-Throughput Secreted Expression of Difficult Recombinant Proteins in Drosophila S2 Cells

32. NDP52 acts as a redox sensor in PINK1/Parkin‐mediated mitophagy.

35. Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

40. Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

41. Leri’s pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis

43. Structure and activation mechanism of the human liver-type glutaminase GLS2

46. Identification of small molecule allosteric modulators of 5,10-methylenetetrahydrofolate reductase (MTHFR) by targeting its unique regulatory domain

47. Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease

48. A Single-Stranded DNA-Encoded Chemical Library Based on a Stereoisomeric Scaffold Enables Ligand Discovery by Modular Assembly of Building Blocks

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