In most cases, xeroderma pigmentosum group D (XP-D) and trichothiodystrophy (TTD) patients
carry mutations in the carboxy-terminal domain of the evolutionarily conserved helicase …

TAP-p15 heterodimers have been implicated in the export of mRNAs through nuclear pore
complexes (NPCs). We report a structural analysis of the interaction domains of TAP and p15 …

The gene encoding the ribosomal protein S19 (RPS19) is frequently mutated in Diamond-Blackfan
anemia (DBA), a congenital erythroblastopenia. The consequence of these mutations …

TFIIH is a multiprotein complex required for both transcription and DNA repair. Single
particles of human TFIIH were revealed by electron microscopy and image processing at a …

Objective: To study the clinical and radiologic spectrum and genotype–phenotype correlation
of 4H (hypomyelination, hypodontia, hypogonadotropic hypogonadism) leukodystrophy …

Y14 and Mago are conserved eukaryotic proteins that associate with spliced mRNAs in the
nucleus and remain associated at exon junctions during and after nuclear export. In the …

Mutations in POLR3A encoding the largest subunit of RNA polymerase III (Pol III) were
found to be responsible for the majority of cases presenting with three clinically overlapping …

A small proportion of 4H (Hypomyelination, Hypodontia and Hypogonadotropic Hypogonadism)
or RNA polymerase III (POLR3)-related leukodystrophy cases are negative for mutations …

Macromolecular complexes are responsible for most of the essential mechanisms in cells,
leading to a broad interest in their purification and characterization. Co-expression is now …

Diamond‐Blackfan anemia (DBA) is an inherited disease characterized by pure erythroid
aplasia. Thirty percent (30%) of patients display malformations, especially of the hands, face, …