Dr. Yan, Yu-Ting
Emeritus Associate Research Fellow
- 02-2789-9061 (Lab) (Room No: N616)
- 02-2652-3941 (Office)
- 02-2785-8847 (Fax)
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Specialty:
- Molecular Genetics
- Cardiovascular Development
- Myofibrillogenesis
Education and Positions:
Ph.D., University of Medicine and Dentistry of New Jersey
Highlight Detail
Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV.
Dr. Yan, Yu-Ting
Hum Mol Genet, Nov 30, 2010Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease caused by a deficiency in glycogen-branching enzyme (GBE1) activity that results in the accumulation of amylopectin-like polysaccharide, which presumably leads to osmotic swelling and cell death. This disease is extremely heterogeneous in terms of tissue involvement, age of onset and clinical manifestation.