• Korean Journal of Veterinary Research
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• v.47 no.2
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• pp.255-257
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• 2007

Familial renal amyloidosis was found in a four-year-old male Shar Pei dog. The dog had intermittent fever with signs of renal failure. Another sibling of this dog also showed subclinical signs of renal amyloidosis. Despite aggressive therapy with peritoneal dialysis, the dog died after 10 days of the first presentation. With special staining for amyloid, the renal amylodosis was confirmed.

• Annals of Clinical Neurophysiology
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• v.24 no.2
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• pp.90-92
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• 2022

AGel amyloidosis is an autosomal dominantly inherited disease caused by a GSN mutation, and affected patients typically present with the clinical triad of corneal lattice dystrophy, progressive cranial neuropathy, and cutis laxa. We report a Korean family with AGel amyloidosis with predominant manifestations of facial and bulbar muscle weakness. Whole-exome sequencing revealed a common missense mutation (p.Asp214Tyr) in GSN. This case strongly suggests that AGel amyloidosis should be considered when a patient presents with progressive facial and bulbar palsies.

• Journal of the Korean Magnetic Resonance Society
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• v.25 no.1
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• pp.8-11
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• 2021

Transthyretin (TTR) is an important transporter protein for thyroxine (T4) and a holo-retinol protein in human. In its native state, TTR forms a tetrameric complex to construct the hydrophobic binding pocket for T4. On the other hand, this protein is also infamous for its amyloidogenic propensity, which causes various human diseases, such as senile systemic amyloidosis and familial amyloid polyneuropathy/cardiomyopathy. In this work, to investigate various structural features of TTR with solution-state nuclear magnetic resonance (NMR) spectroscopy, we conducted backbone NMR signal assignments. Except the N-terminal two residues and prolines, backbone 1H-15N signals of all residues were successfully assigned with additional chemical shift information of 13CO, 13Cα, and 13Cβ for most residues. The chemical shift information reported here will become an important basis for subsequent structural and functional studies of TTR.