Mia Horowitz
Tel Aviv University(IL)
Publications by Year
Research Areas
Cellular transport and secretion, Lysosomal Storage Disorders Research, Glycosylation and Glycoproteins Research, Carbohydrate Chemistry and Synthesis, Studies on Chitinases and Chitosanases
Most-Cited Works
- → The human glucocerebrosidase gene and pseudogene: Structure and evolution(1989)430 cited
- → Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting(2013)331 cited
- → ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity(2005)328 cited
- → Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype(1995)211 cited
- → A Mutation in SNAP29, Coding for a SNARE Protein Involved in Intracellular Trafficking, Causes a Novel Neurocutaneous Syndrome Characterized by Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma(2005)197 cited
- → Novel mechanism for RNA maturation: the leader sequences of simian virus 40 mRNA are not transcribed adjacent to the coding sequences.(1977)168 cited