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1 . Academic Journal
The moonlighting of RAD23 in DNA repair and protein degradation
저자
by
Grønbæk-Thygesen, Martin
;
Kampmeyer, Caroline
;
Hofmann, Kay
;
Hartmann-Petersen, Rasmus
.
소스
In
BBA - Gene Regulatory Mechanisms
June 2023 1866(2)
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6 . Academic Journal
14-fold increased prevalence of rare glucokinase gene variant carriers in unselected Danish patients with newly diagnosed type 2 diabetes
저자
by
Gjesing, Anette P.
;
Engelbrechtsen, Line
;
Cathrine B. Thuesen, Anne
;
Have, Christian T.
;
Hollensted, Mette
, et al.
소스
In
Diabetes Research and Clinical Practice
December 2022 194
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7 . Academic Journal
Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome
저자
by
Karstensen, Helena Gásdal
;
Rendtorff, Nanna Dahl
;
Hindbæk, Lone Sandbjerg
;
Colombo, Roberto
;
Stein, Amelie
, et al.
소스
In
European Journal of Medical Genetics
March 2020 63(3)
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7 . Academic Journal
Destabilization and Degradation of a Disease-Linked PGM1 Protein Variant.
저자
by
Gouliaev, Frederik
;
Jonsson, Nicolas
;
Gersing, Sarah
;
Lisby, Michael
;
Lindorff-Larsen, Kresten
, et al.
소스
Biochemistry; 6/4/2024, Vol. 63 Issue 11, p1423-1433, 11p
Full Text (ACS)
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7 . Academic Journal
Deep mutational scanning reveals a correlation between degradation and toxicity of thousands of aspartoacylase variants.
저자
by
Grønbæk-Thygesen, Martin
;
Voutsinos, Vasileios
;
Johansson, Kristoffer E.
;
Schulze, Thea K.
;
Cagiada, Matteo
, et al.
소스
Nature Communications; 5/13/2024, Vol. 15 Issue 1, p1-18, 18p
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7 . Academic Journal
Mass spectrometry analyses of normal and polyglutamine expanded ataxin-3 reveal novel interaction partners involved in mitochondrial function
저자
by
Kristensen, Line V.
;
Oppermann, Felix S.
;
Rauen, Matthias J.
;
Fog, Karina
;
Schmidt, Thorsten
, et al.
소스
In
Neurochemistry International
January 2018 112:5-17
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7 . Academic Journal
Polyglutamine expansion of ataxin-3 alters its degree of ubiquitination and phosphorylation at specific sites
저자
by
Kristensen, Line V.
;
Oppermann, Felix S.
;
Rauen, Matthias J.
;
Hartmann-Petersen, Rasmus
;
Thirstrup, Kenneth
.
소스
In
Neurochemistry International
May 2017 105:42-50
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7 . Academic Journal
Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.
저자
by
Gersing, Sarah
;
Schulze, Thea K.
;
Cagiada, Matteo
;
Stein, Amelie
;
Roth, Frederick P.
, et al.
소스
Genome Biology; 4/16/2024, Vol. 25 Issue 1, p1-22, 22p
Open Access (BioMed Central)
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7 . Academic Journal
Cellular and molecular mechanisms of aspartoacylase and its role in Canavan disease.
저자
by
Grønbæk-Thygesen, Martin
;
Hartmann-Petersen, Rasmus
.
소스
Cell & Bioscience
. 4/6/2024, Vol. 14 Issue 1, p1-33. 33p.
Open Access (BioMed Central)
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4 . Academic Journal
A mutational atlas for Parkin proteostasis.
저자
by
Clausen, Lene
;
Voutsinos, Vasileios
;
Cagiada, Matteo
;
Johansson, Kristoffer E.
;
Grønbæk-Thygesen, Martin
, et al.
소스
Nature Communications; 2/20/2024, Vol. 15 Issue 1, p1-17, 17p
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