Martin Stucki

TL;DR: The staphylococcal CcpA thus not only is involved in the regulation of carbon metabolism but seems to function as a modulator of virulence gene expression as well.

TL;DR: A new disease that results in failure to release vitamin B12 from lysosomes, which mimics the cblF defect caused by LMBRD1 mutations is described and it is shown that mutations altering the putative ATPase domain of ABCD4 affect its function, suggesting that the ATPase activity ofABCD4 may be involved in intracellular processing of vitamin B 12.

TL;DR: Differential or preferential MMACHC transcript levels may provide a clue as to why individuals carrying c.394C>T generally present later in life.

TL;DR: Mutations in a gene designated MMADHC are responsible for the cblD defect in vitamin B12 metabolism, andTransfection of wild-type MMAD HC rescued the cellular phenotype, and the functional importance of mutant alleles was shown by means of transfection with mutant constructs.

TL;DR: This work identifies LMBRD1 as the gene underlying the cblF defect of cobalamin metabolism and suggests that LMBD1 is a lysosomal membrane exporter for cobalamina.