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

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

45 Citationer (Scopus)

Originalsprog	Engelsk
Tidsskrift	Human Mutation
Vol/bind	40
Udgave nummer	4
Sider (fra-til)	444-457
ISSN	1059-7794
DOI	https://doi.org/10.1002/humu.23707
Status	Udgivet - 2019

Adgang til dokumentet

10.1002/humu.23707

Citationsformater

@article{b5acf46eb42f4781be7d70dd6feb48d7,

title = "Toward mechanistic models for genotype-phenotype correlations in phenylketonuria using protein stability calculations",

keywords = "genotype-phenotype, PAH, PKU, proteasome, protein degradation, protein stability, protein unfolding",

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

year = "2019",

doi = "10.1002/humu.23707",

language = "English",

volume = "40",

pages = "444--457",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "JohnWiley & Sons, Inc.",

number = "4",

}

TY - JOUR

T1 - Toward mechanistic models for genotype-phenotype correlations in phenylketonuria using protein stability calculations

AU - Scheller, Rasmus

AU - Stein, Amelie

AU - Nielsen, Sofie V.

AU - Marin, Frederikke I.

AU - Gerdes, Anne-Marie

AU - Di Marco, Miriam

AU - Papaleo, Elena

AU - Lindorff-Larsen, Kresten

AU - Hartmann-Petersen, Rasmus

PY - 2019

Y1 - 2019

KW - genotype-phenotype

KW - PAH

KW - PKU

KW - proteasome

KW - protein degradation

KW - protein stability

KW - protein unfolding

U2 - 10.1002/humu.23707

DO - 10.1002/humu.23707

M3 - Journal article

C2 - 30648773

SN - 1059-7794

VL - 40

SP - 444

EP - 457

JO - Human Mutation

JF - Human Mutation

IS - 4

ER -