Toward mechanistic models for genotype-phenotype correlations in phenylketonuria using protein stability calculations

Rasmus Scheller; Amelie Stein; Sofie V. Nielsen; Frederikke I. Marin; Anne-Marie Gerdes; Miriam Di Marco; Elena Papaleo; Kresten Lindorff-Larsen; Rasmus Hartmann-Petersen

doi:10.1002/humu.23707

Toward mechanistic models for genotype-phenotype correlations in phenylketonuria using protein stability calculations

Rasmus Scheller, Amelie Stein, Sofie V. Nielsen, Frederikke I. Marin, Anne-Marie Gerdes, Miriam Di Marco, Elena Papaleo, Kresten Lindorff-Larsen, Rasmus Hartmann-Petersen

Research output: Contribution to journal › Journal article › Research › peer-review

43 Citations (Scopus)

Original language	English
Journal	Human Mutation
Volume	40
Issue number	4
Pages (from-to)	444-457
ISSN	1059-7794
DOIs	https://doi.org/10.1002/humu.23707
Publication status	Published - 2019

Keywords

genotype-phenotype
PAH
PKU
proteasome
protein degradation
protein stability
protein unfolding

Access to Document

10.1002/humu.23707

Cite this

Toward mechanistic models for genotype-phenotype correlations in phenylketonuria using protein stability calculations. / Scheller, Rasmus; Stein, Amelie; Nielsen, Sofie V.; Marin, Frederikke I.; Gerdes, Anne-Marie; Di Marco, Miriam; Papaleo, Elena; Lindorff-Larsen, Kresten ; Hartmann-Petersen, Rasmus.

In: Human Mutation, Vol. 40, No. 4, 2019, p. 444-457.

Research output: Contribution to journal › Journal article › Research › peer-review

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AU - Gerdes, Anne-Marie

AU - Di Marco, Miriam

AU - Papaleo, Elena

AU - Lindorff-Larsen, Kresten

AU - Hartmann-Petersen, Rasmus

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KW - protein degradation

KW - protein stability

KW - protein unfolding

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