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Your search keyword '"Bolund, Lars"' showing total 5 results
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5 results on '"Bolund, Lars"'

1. In vivo evidence that SORL1, encoding the endosomal recycling receptor SORLA, can function as a causal gene in Alzheimer’s Disease

Author

Andersen, Olav Michael, Bøgh, Nikolaj Hvidt, Landau, Anne, Pløen, Gro Grunnet, Jensen, Anne Mette Gissel, Monti, Giulia, Ulhøi, Benedicte Parm, Nyengaard, Jens Randel, Jacobsen, Kirsten Rosenmay, Jørgensen, Margarita Melnikova, Holm, Ida Elisabeth, Kristensen, Marianne Lundsgaard, Alstrup, Aage Kristian Olsen, Søvsø Szocska Hansen, Esben, Teunissen, Charlotte E, Breidenbach, Laura, Droescher, Mathias, Liu, Ying, Pedersen, Hanne Skovsgaard, Callesen, Henrik, Luo, Yonglun, Bolund, Lars, Brooks, David J, Laustsen, Christoffer, Small, Scott A, Mikkelsen, Lars F., and Sørensen, Charlotte Brandt

Published
2022

4. [Conformational diseases].

Author

Gregersen N, Bross P, and Bolund LA

Subjects
Cardiomyopathies genetics, Central Nervous System Diseases genetics, Connective Tissue Diseases genetics, Cystic Fibrosis genetics, Cystic Fibrosis metabolism, Heredodegenerative Disorders, Nervous System genetics, Humans, Oxidative Stress, Cardiomyopathies metabolism, Central Nervous System Diseases metabolism, Connective Tissue Diseases metabolism, Heredodegenerative Disorders, Nervous System metabolism, Protein Conformation, Protein Folding
Abstract

Conformational diseases are diseases where cellular functions are compromised because of misfolded proteins. The conceptional framework of conformational diseases is found in the cellular protein quality control systems which in the normal and young cell eliminate misfolded proteins. Many inherited genetic defects result in the misfolding of proteins, which may lead to recessive disorders if the proteins in question are totally or partly eliminated or to dominant diseases if the proteins slip through the protein quality control and accumulate in the cell. These inherited diseases are all early onset. Misfolding may also occur in proteins with an intrinsic ability to aggregate and in oxidatively damaged proteins, which accumulate by ageing. If the protein quality control systems are not sufficiently efficient cell toxic protein complexes may accumulate. This pathogenesis is a major contributing factor in the development of late onset neurodegenerative disorders.

Published
2003

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