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L68Q cystatin C. Expression, cellular transport and turnover of the cystatin C variant forming amyloid in patients with Hereditary Cystatin C Amyloid Angiopathy (HCCAA)

Bjarnadóttir, María LU (2000)
Abstract
Hereditary cystatin C amyloid angiopathy (HCCAA) is a disorder characterised by multiple strokes in young adults, resulting in paralysis and dementia. The disease is caused by a mutation in the gene coding for the peptidase inhibitor cystatin C. The mutation causes an amino acid substitution Leu68 to Gln in cystatin C (L68Q cystatin C) which results in deposition of the protein in the blood vessels of the brain. The overall goal of this study was to elucidate the pathogenic mechanisms leading to amyloid deposition in patients suffering from HCCAA. This was addressed by studying factors....
Please use this url to cite or link to this publication:
author
supervisor
organization
publishing date
type
Thesis
publication status
published
subject
keywords
cystatin C, amyloidosis, brain hemorrhage
pages
60 pages
ISBN
ISRN-LUMEDW/MECL-1017-SE
language
English
LU publication?
yes
id
b3adc1bc-7076-4124-9fc0-8f8d6a14f42f
date added to LUP
2022-03-16 15:20:00
date last changed
2022-03-16 16:07:22
@phdthesis{b3adc1bc-7076-4124-9fc0-8f8d6a14f42f,
  abstract     = {{Hereditary cystatin C amyloid angiopathy (HCCAA) is a disorder characterised by multiple strokes in young adults, resulting in paralysis and dementia. The disease is caused by a mutation in the gene coding for the peptidase inhibitor cystatin C. The mutation causes an amino acid substitution Leu68 to Gln in cystatin C (L68Q cystatin C) which results in deposition of the protein in the blood vessels of the brain. The overall goal of this study was to elucidate the pathogenic mechanisms leading to amyloid deposition in patients suffering from HCCAA. This was addressed by studying factors....}},
  author       = {{Bjarnadóttir, María}},
  isbn         = {{ISRN-LUMEDW/MECL-1017-SE}},
  keywords     = {{cystatin C; amyloidosis; brain hemorrhage}},
  language     = {{eng}},
  month        = {{09}},
  school       = {{Lund University}},
  title        = {{L68Q cystatin C. Expression, cellular transport and turnover of the cystatin C variant forming amyloid in patients with Hereditary Cystatin C Amyloid Angiopathy (HCCAA)}},
  year         = {{2000}},
}