Susan K. Anderson

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Mutation of the SIMPLE gene (small integral membrane protein of the lysosome/late endosome) is the molecular basis of Charcot-Marie-Tooth disease type 1C (CMT1C), a demyelinating peripheral neuropathy. Although the precise function of SIMPLE is unknown, prior reports suggest it localizes to the lysosome/late endosome. Furthermore, murine Simple interacts(More)
A severe recessive cerebellar ataxia, Ataxia-Oculomotor Apraxia 2 (AOA2) and a juvenile onset form of dominant amyotrophic lateral sclerosis (ALS4) result from mutations of the Senataxin (SETX) gene. To begin characterization this disease protein, we developed a specific antibody to the DNA/RNA helicase domain of SETX. In murine brain, SETX concentrates in(More)
The pathogenesis of breast cancers that do not express estrogen receptors or Her-2/neu receptors (ER-/HER2- phenotype) is incompletely understood. We had observed markedly elevated gene expression of gamma-aminobutyric acid type A (GABA(A)) receptor subunit pi (GABApi, GABRP) in some breast cancers with ER-/HER2- phenotype. In this study, transcriptional(More)
Human, but not murine, renal peritubular and glomerular capillaries constitutively express class II major histocompatibility (MHC) proteins at high levels in normal human kidney. Expression of class II proteins on renal microvascular endothelial cells (RMEC) makes it available to circulating lymphocytes and imparts a surveillance capacity to RMEC for(More)
OBJECTIVE To determine the feasibility of the combined use of laryngeal nerve monitoring and minimally invasive thyroid surgery. DESIGN Prospective, nonrandomized analysis of single-surgeon experience. SETTING Academic institution. PATIENTS Consecutive series of patients undergoing both minimally invasive thyroid surgery and laryngeal nerve(More)
BACKGROUND Proliferative potential of a single cell, defined as the number of progeny it gives rise to, has been used to define a hierarchy of endothelial progenitor cells in blood. Cells with high proliferative potential are presumed to have greater capacity for endothelium repair. Based on results with commercially available endothelial cells, it has been(More)
OBJECTIVES To determine the value of preoperative Tc-sestamibi scans and the incidence of ectopic glands in tertiary hyperparathyroidism. DESIGN Prospective, non-randomized analysis of a consecutive cohort of surgical patients from the Medical College of Georgia Thyroid/Parathyroid Center. MATERIALS AND METHODS A consecutive series of patients with(More)
Many diverse human diseases are associated with protein aggregation in ordered fibrillar structures called amyloid. Amyloid formation may mediate aberrant protein interactions that culminate in neurodegeneration in Alzheimer, Huntington, and Parkinson diseases and in prion encephalopathies. Studies of protein aggregation in the brain are hampered by(More)
The virulence of the Staphylococcus aureus strains that differed only in capsule expression was compared in a rat model of catheter-induced experimental endocarditis. The ID50 of all the strains was low (less than 3 x 10(3) cfu of S. aureus), suggesting that this model may be more sensitive than other animal models to differences in bacterial virulence.(More)
OBJECTIVES A public thyroid screening protocol incorporating ultrasonography was developed and implemented as a feature of the National Thyroid Cancer Awareness month. Findings and lessons learned are described. METHODS Prospective analysis of participants in a 1-day thyroid screening protocol and review of findings and referrals generated during the(More)