Telomere length and telomerase activity are important factors in the pathobiology of human
disease. Age-related diseases and premature ageing syndromes are characterized by short …

The inherited marrow failure syndromes are a diverse set of genetic disorders characterized
by hematopoietic aplasia and cancer predisposition. The clinical phenotypes are highly …

Pseudouridine is the most abundant RNA modification, yet except for a few well-studied
cases, little is known about the modified positions and their function (s). Here, we develop Ψ …

Posttranscriptional modifications of mRNA have emerged as regulators of gene expression.
Although pseudouridylation is the most abundant, its biological role remains poorly …

Telomere shortening occurs concomitant with organismal aging, and it is accelerated in the
context of human diseases associated with mutations in telomerase, such as some cases of …

Recent advances have fuelled rapid growth in our appreciation of the tremendous number,
diversity and biological importance of non-coding (nc) RNAs. Because ncRNAs typically …

Telomerase is a ribonucleoprotein (RNP) complex that synthesizes telomere repeats in
tissue progenitor cells and cancer cells. Active human telomerase consists of at least three …

Eukaryotes and archaea use two sets of specialized ribonucleoproteins (RNPs) to carry out
sequence-specific methylation and pseudouridylation of RNA, the two most abundant types …

The DKC1 gene encodes a pseudouridine synthase that modifies ribosomal RNA (rRNA).
DKC1 is mutated in people with X-linked dyskeratosis congenita (X-DC), a disease …

Dyskeratosis congenita is a premature aging syndrome characterized by muco-cutaneous
features and a range of other abnormalities, including early greying, dental loss …