Membrane and protein traffic in the secretory and endocytic pathways is mediated by
vesicular transport. Recent studies of certain key regulators of vesicular transport, the Rab …

Rab27a activity is affected in several mouse models of human disease including Griscelli
(ashen mice) and Hermansky-Pudlak (gunmetal mice) syndromes. A loss of function …

Few molecular events important to platelet biogenesis have been identified. Mice
homozygous for the spontaneous, recessive mutation gunmetal (gm) have prolonged …

Nitrogen-containing bisphosphonate drugs such as risedronate act by inhibiting farnesyl
diphosphate synthase, thereby disrupting protein prenylation in osteoclasts. We recently …

Megakaryocytes release platelets by reorganizing the cytoplasm into proplatelet extensions.
Fundamental to this process is the need to coordinate transport of products and organelles …

Retroviruses undergo a high frequency of genetic alterations during the process of copying
their RNA genomes. However, little is known about the replication fidelity of other elements …

Deficiency of β-hexosaminidase A (Hex A) activity typically results in Tay-Sachs disease.
However, healthy subjects found to be deficient in Hex A activity (ie, pseudodeficient) by …

An abnormal infant had a dicentric chromosome 14 with an inverted tandem duplication [46,
XY, inv dup (14)(pter→ q32. 3:: q24. 2→ pter)], thus making him trisomic for the proximal two …

A study was undertaken to characterize the mutation (s) responsible for Tay-Sachs disease
(TSD) in a Cajun population in southwest Louisiana and to identify the origins of these …

Initial investigations demonstrated that only 3/34" Tay-Sachs chromosomes" in 22 unrelated,
non-Jewish patients or carriers of some form of GM2-gangliosidosis (7 black and 15 non …